-
2
-
-
0037154182
-
Decreased pulmonary vascular permeability in aquaporin-1-null humans
-
DOI 10.1073/pnas.022626499
-
King LS, Nielsen S, Agre P, Brown RH. Decreased pulmonary vascular permeability in aquaporin-1-null humans. Proc Natl Acad Sci USA 2002;99:1059-1063. (Pubitemid 34106635)
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, Issue.2
, pp. 1059-1063
-
-
King, L.S.1
Nielsen, S.2
Agre, P.3
Brown, R.H.4
-
3
-
-
0033498876
-
Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel
-
Schaedel C, Marthinsen L, Kristoffersson AC, Kornfalt R, Nilsson KO, Orlenius B, Holmberg L. Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. J Pediatr 1999;135:739-745. (Pubitemid 30180424)
-
(1999)
Journal of Pediatrics
, vol.135
, Issue.6
, pp. 739-745
-
-
Schaedel, C.1
Marthinsen, L.2
Kristoffersson, A.-C.3
Kornfalt, R.4
Nilsson, K.O.5
Orlenius, B.6
Holmberg, L.7
-
4
-
-
34249906770
-
New Diseases Derived or Associated with the Tight Junction
-
DOI 10.1016/j.arcmed.2007.02.003, PII S0188440907001105
-
Cereijido M, Contreras RG, Flores-Benítez D, Flores-Maldonado C, Larre I, Ruiz A, Shoshani L. New diseases derived or associated with the tight junction. Arch Med Res 2007;38:465-478. (Pubitemid 46873811)
-
(2007)
Archives of Medical Research
, vol.38
, Issue.5
, pp. 465-478
-
-
Cereijido, M.1
Contreras, R.G.2
Flores-Benitez, D.3
Flores-Maldonado, C.4
Larre, I.5
Ruiz, A.6
Shoshani, L.7
-
5
-
-
33645963995
-
Claudins and epithelial paracellular transport
-
Van Itallie CM, Anderson JM. Claudins and epithelial paracellular transport. Annu Rev Physiol 2006;68:403-429.
-
(2006)
Annu Rev Physiol
, vol.68
, pp. 403-429
-
-
Van Itallie, C.M.1
Anderson, J.M.2
-
6
-
-
0027744129
-
Occludin: A novel integral membrane protein localizing at tight junctions
-
DOI 10.1083/jcb.123.6.1777
-
Furuse M, Hirase T, Itoh M, Nagafuchi A, Yonemura S, Tsukita S, Tsukita S. Occludin: a novel integral membrane protein localizing at tight junctions. J Cell Biol 1993;123:1777-1788. (Pubitemid 24012933)
-
(1993)
Journal of Cell Biology
, vol.123
, Issue.6 II
, pp. 1777-1788
-
-
Furuse, M.1
Hirase, T.2
Itoh, M.3
Nagafuchi, A.4
Yonemura, S.5
Tsukita, S.6
Tsukita, S.7
-
7
-
-
0033635344
-
Complex phenotype of mice lacking occludin, a component of tight junction strands
-
Saitou M, Furuse M, Sasaki H, Schulzke JD, Fromm M, Takano H, Noda T, Tsukita S. Complex phenotype of mice lacking occludin, a component of tight junction strands. Mol Biol Cell 2000;11:4131-4142.
-
(2000)
Mol Biol Cell
, vol.11
, pp. 4131-4142
-
-
Saitou, M.1
Furuse, M.2
Sasaki, H.3
Schulzke, J.D.4
Fromm, M.5
Takano, H.6
Noda, T.7
Tsukita, S.8
-
8
-
-
29144533473
-
Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells
-
DOI 10.1083/jcb.200510043
-
Ikenouchi J, Furuse M, Furuse K, Sasaki H, Tsukita S, Tsukita S. Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells. J Cell Biol 2005;171:939-945. (Pubitemid 41815826)
-
(2005)
Journal of Cell Biology
, vol.171
, Issue.6
, pp. 939-945
-
-
Ikenouchi, J.1
Furuse, M.2
Furuse, K.3
Sasaki, H.4
Tsukita, S.5
Tsukita, S.6
-
9
-
-
17744380785
-
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
-
DOI 10.1016/S0092-8674(01)00200-8
-
Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, et al. Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29. Cell 2001;104:165-172. (Pubitemid 32144981)
-
(2001)
Cell
, vol.104
, Issue.1
, pp. 165-172
-
-
Wilcox, E.R.1
Burton, Q.L.2
Naz, S.3
Riazuddin, S.4
Smith, T.N.5
Ploplis, B.6
Belyantseva, I.7
Ben-Yosef, T.8
Liburd, N.A.9
Morell, R.J.10
Kachar, B.11
Wu, D.K.12
Griffith, A.J.13
Riazuddin, S.14
Friedman, T.B.15
-
10
-
-
10744222330
-
Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration
-
DOI 10.1093/hmg/ddg210
-
Ben-Yosef T. Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration. Hum Mol Genet 2003;12:2049-2061. (Pubitemid 37038814)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.16
, pp. 2049-2061
-
-
Ben-Yosef, T.1
Belyantseva, I.A.2
Saunders, T.L.3
Hughes, E.D.4
Kawamoto, K.5
Van Itallie, C.M.6
Beyer, L.A.7
Halsey, K.8
Gardner, D.J.9
Wilcox, E.R.10
Rasmussen, J.11
Anderson, J.M.12
Dolan, D.F.13
Forge, A.14
Raphael, Y.15
Camper, S.A.16
Friedman, T.B.17
-
11
-
-
0033516683
-
2+ resorption
-
DOI 10.1126/science.285.5424.103
-
Simon DB. Paracellin-1, a renal tight junction protein required for paracellular mg21 resorption. Science 1999;285:103-106. (Pubitemid 29307575)
-
(1999)
Science
, vol.285
, Issue.5424
, pp. 103-106
-
-
Simon, D.B.1
Lu, Y.2
Choate, K.A.3
Velazquez, H.4
Al-Sabban, E.5
Praga, M.6
Casari, G.7
Bettinelli, A.8
Colussi, G.9
Rodriguez-Soriano, J.10
McCredie, D.11
Milford, D.12
Sanjad, S.13
Lifton, R.P.14
-
12
-
-
35348841509
-
Tight junctions/adherens junctions: Basic structure and function
-
DOI 10.1038/sj.jid.5700865, PII 5700865
-
Niessen CM. Tight junctions/adherens junctions: basic structure and function. J Invest Dermatol 2007;127:2525-2532. (Pubitemid 47585053)
-
(2007)
Journal of Investigative Dermatology
, vol.127
, Issue.11
, pp. 2525-2532
-
-
Niessen, C.M.1
-
13
-
-
34249785986
-
Functional effects of coxsackievirus and adenovirus receptor glycosylation on homophilic adhesion and adenoviral infection
-
DOI 10.1128/JVI.02562-06
-
Excoffon KJDA, Gansemer N, Traver G, Zabner J. Functional effects of Coxsackievirus and adenovirus receptor glycosylation on homophilic adhesion and adenoviral infection. J Virol 2007;81:5573-5578. (Pubitemid 46846997)
-
(2007)
Journal of Virology
, vol.81
, Issue.11
, pp. 5573-5578
-
-
Ashbourne, E.K.J.D.1
Gansemer, N.2
Traver, G.3
Zabner, J.4
-
14
-
-
0346025727
-
Junctional adhesion molecules (JAMs): More molecules with dual functions?
-
DOI 10.1242/jcs.00930
-
Ebnet K, Suzuki A, Ohno S, Vestweber D. Junctional adhesion molecules (JAMS): more molecules with dual functions? J Cell Sci 2004;117:19-29. (Pubitemid 38072117)
-
(2004)
Journal of Cell Science
, vol.117
, Issue.1
, pp. 19-29
-
-
Ebnet, K.1
Suzuki, A.2
Ohno, S.3
Vestweber, D.4
-
15
-
-
0032568370
-
E-cadherin germline mutations in familial gastric cancer
-
DOI 10.1038/32918
-
Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, Taite H, Scoular R, Miller A, Reeve AE. E-cadherin germline mutations in familial gastric cancer. Nature 1998;392:402-405. (Pubitemid 28168738)
-
(1998)
Nature
, vol.392
, Issue.6674
, pp. 402-405
-
-
Guilford, P.1
Hopkins, J.2
Harraway, J.3
McLeod, M.4
McLeod, N.5
Harawira, P.6
Taite, H.7
Scoular, R.8
Miller, A.9
Reeve, A.E.10
-
17
-
-
33644626234
-
Beta-catenin in the fibroproliferative response to acute lung injury
-
DOI 10.1165/rcmb.2005-0277OC
-
Douglas IS, Diaz del Valle F, Winn RA, Voelkel NF. Beta-catenin in the fibroproliferative response to acute lung injury. Am J Respir Cell Mol Biol 2006;34:274-285. (Pubitemid 43320708)
-
(2006)
American Journal of Respiratory Cell and Molecular Biology
, vol.34
, Issue.3
, pp. 274-285
-
-
Douglas, I.S.1
Diaz, D.V.F.2
Winn, R.A.3
Voelkel, N.F.4
-
18
-
-
10744230392
-
E-cadherin germline missense mutations and cell phenotype: Evidence for the independence of cell invasion on the motile capabilities of the cells
-
DOI 10.1093/hmg/ddg316
-
Suriano G, Oliveira MJ, Huntsman D, Mateus AR, Ferreira P, Casares F, Oliveira C, Carneiro F, Machado JC, Mareel M, et al. E-cadherin germline missense mutations and cell phenotype: Evidence for the independence of cell invasion on the motile capabilities of the cells. Hum Mol Genet 2003;12:3007-3016. (Pubitemid 37442028)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.22
, pp. 3007-3016
-
-
Suriano, G.1
Oliveira, M.J.2
Huntsman, D.3
Mateus, A.R.4
Ferreira, P.5
Casares, F.6
Oliveira, C.7
Carneiro, F.8
Machado, J.C.9
Mareel, M.10
Seruca, R.11
-
19
-
-
0035991944
-
Desmosomal adhesion: Structural basis, molecular mechanism and regulation (review)
-
DOI 10.1080/09687680210132476
-
Garrod DR, Merritt AJ, Nie Z. Desmosomal adhesion: structural basis, molecular mechanism and regulation. Mol Membr Biol 2002;19:81-94. (review). (Pubitemid 34753312)
-
(2002)
Molecular Membrane Biology
, vol.19
, Issue.2
, pp. 81-94
-
-
Garrod, D.R.1
Merritt, A.J.2
Nie, Z.3
-
20
-
-
84984774604
-
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
-
McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet 1997;17:240-244.
-
(1997)
Nat Genet
, vol.17
, pp. 240-244
-
-
McGrath, J.A.1
McMillan, J.R.2
Shemanko, C.S.3
Runswick, S.K.4
Leigh, I.M.5
Lane, E.B.6
Garrod, D.R.7
Eady, R.A.8
-
21
-
-
0032970153
-
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
-
DOI 10.1093/hmg/8.6.971
-
Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI, et al. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 1999;8:971-976. (Pubitemid 29250884)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.6
, pp. 971-976
-
-
Rickman, L.1
Simrak, D.2
Stevens, H.P.3
Hunt, D.M.4
King, I.A.5
Bryant, S.P.6
Eady, R.A.J.7
Leigh, I.M.8
Arnemann, J.9
Magee, A.I.10
Kelsell, D.P.11
Buxton, R.S.12
-
22
-
-
0030006606
-
Desmosomes and hemidesmosomes: Structure and function of molecular components
-
Green KJ, Jones JC. Desmosomes and hemidesmosomes: structure and function of molecular components. FASEB J 1996;10:871-881. (Pubitemid 26186121)
-
(1996)
FASEB Journal
, vol.10
, Issue.8
, pp. 871-881
-
-
Green, K.J.1
Jones, J.C.R.2
-
23
-
-
0024150623
-
Focal adhesions: Transmembrane junctions between the extracellular matrix and the cytoskeleton
-
Burridge K, Fath K, Kelly T, Nuckolls G, Turner C. Focal adhesions: transmembrane junctions between the extracellular matrix and the cytoskeleton. Annu Rev Cell Biol 1988;4:487-525. (Pubitemid 19139264)
-
(1988)
Annual Review of Cell Biology
, vol.4
, pp. 487-525
-
-
Burridge, K.1
Fath, K.2
Kelly, T.3
Nuckolls, G.4
Turner, C.5
-
24
-
-
0036461064
-
Laminin 5 mutations in junctional epidermolysis bullosa: Molecular basis of Herlitz vs non-Herlitz phenotypes
-
DOI 10.1007/s00439-001-0630-1
-
Nakano A, Chao S-C, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet 2002;110:41-51. (Pubitemid 36067416)
-
(2002)
Human Genetics
, vol.110
, Issue.1
, pp. 41-51
-
-
Nakano, A.1
Chao, S.-C.2
Pulkkinen, L.3
Murrell, D.4
Bruckner-Tuderman, L.5
Pfendner, E.6
Uitto, J.7
-
25
-
-
0025214541
-
Point mutations impairing cell surface expression of the common beta subunit (CD18) in a patient with leukocyte adhesion molecule (Leu-CAM) deficiency
-
Arnaout MA, Dana N, Gupta SK, Tenen DG, Fathallah DM. Point mutations impairing cell surface expression of the common beta subunit (cd18) in a patient with leukocyte adhesion molecule (leucam) deficiency. J Clin Invest 1990;85:977-981. (Pubitemid 20087506)
-
(1990)
Journal of Clinical Investigation
, vol.85
, Issue.3
, pp. 977-981
-
-
Arnaout, M.A.1
Dana, N.2
Gupta, S.K.3
Tenen, D.G.4
Fathallah, D.M.5
-
26
-
-
0025284549
-
Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates
-
DOI 10.1084/jem.172.1.335
-
Wardlaw AJ, Hibbs ML, Stacker SA, Springer TA. Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. J Exp Med 1990;172:335-345. (Pubitemid 20217275)
-
(1990)
Journal of Experimental Medicine
, vol.172
, Issue.1
, pp. 335-345
-
-
Wardlaw, A.J.1
Hibbs, M.L.2
Stacker, S.A.3
Springer, T.A.4
-
27
-
-
0034233562
-
In vivo functions of integrins: Lessons from null mutations in mice
-
DOI 10.1016/S0945-053X(00)00065-2, PII S0945053X00000652
-
Sheppard D. In vivo functions of integrins: lessons from null mutations in mice. Matrix Biol 2000;19:203-209. (Pubitemid 30601753)
-
(2000)
Matrix Biology
, vol.19
, Issue.3
, pp. 203-209
-
-
Sheppard, D.1
-
28
-
-
0037662109
-
Functions of pulmonary epithelial integrins: From development to disease
-
Sheppard D. Functions of pulmonary epithelial integrins: from development to disease. Physiol Rev 2003;83:673-686. (Pubitemid 36828923)
-
(2003)
Physiological Reviews
, vol.83
, Issue.3
, pp. 673-686
-
-
Sheppard, D.1
-
29
-
-
0043281578
-
The role of connexins in human disease
-
DOI 10.1097/01.AUD.0000079801.55588.13
-
Chang EH, Van Camp G, Smith RJ. The role of connexins in human disease. Ear Hear 2003;24:314-323. (Pubitemid 37022143)
-
(2003)
Ear and Hearing
, vol.24
, Issue.4
, pp. 314-323
-
-
Chang, E.H.1
Van Camp, G.2
Smith, R.J.H.3
-
30
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80-83. (Pubitemid 27202653)
-
(1997)
Nature
, vol.387
, Issue.6628
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry, G.6
Mueller, R.F.7
Leigh, I.M.8
-
31
-
-
55049112492
-
A genecentric human protein atlas for expression profiles based on antibodies
-
Berglund L, Bjorling E, Oksvold P, Fagerberg L, Asplund A, Szigyarto CA, Persson A, Ottosson J, Wernerus H, Nilsson P, et al. A genecentric human protein atlas for expression profiles based on antibodies. Mol Cell Proteomics 2008;7:2019-2027.
-
(2008)
Mol Cell Proteomics
, vol.7
, pp. 2019-2027
-
-
Berglund, L.1
Bjorling, E.2
Oksvold, P.3
Fagerberg, L.4
Asplund, A.5
Szigyarto, C.A.6
Persson, A.7
Ottosson, J.8
Wernerus, H.9
Nilsson, P.10
-
32
-
-
78650653743
-
The air-liquid interface and use of primary cell cultures are important to recapitulate the transcriptional profile of in vivo airway epithelia
-
Pezzulo AA, Starner TD, Scheetz TE, Traver GL, Tilley AE, Harvey BG, Crystal RG, McCray PB, Jr., Zabner J. The air-liquid interface and use of primary cell cultures are important to recapitulate the transcriptional profile of in vivo airway epithelia. Am J Physiol Lung Cell Mol Physiol 2011;300:L25-L31.
-
(2011)
Am J Physiol Lung Cell Mol Physiol
, vol.300
-
-
Pezzulo, A.A.1
Starner, T.D.2
Scheetz, T.E.3
Traver, G.L.4
Tilley, A.E.5
Harvey, B.G.6
Crystal, R.G.7
McCray Jr., P.B.8
Zabner, J.9
-
33
-
-
0036367311
-
An in vitro model of differentiated human airway epithelia. Methods for establishing primary cultures
-
Karp PH, Moninger TO, Weber SP, Nesselhauf TS, Launspach JL, Zabner J, Welsh MJ. An in vitro model of differentiated human airway epithelia. Methods for establishing primary cultures. Methods Mol Biol 2002;188:115-137.
-
(2002)
Methods Mol Biol
, vol.188
, pp. 115-137
-
-
Karp, P.H.1
Moninger, T.O.2
Weber, S.P.3
Nesselhauf, T.S.4
Launspach, J.L.5
Zabner, J.6
Welsh, M.J.7
-
34
-
-
0030589587
-
Targeted mutations in cell adhesion genes: What have we learned from them?
-
DOI 10.1006/dbio.1996.0314
-
Hynes RO. Targeted mutations in cell adhesion genes: what have we learned from them? Dev Biol 1996;180:402-412. (Pubitemid 27037349)
-
(1996)
Developmental Biology
, vol.180
, Issue.2
, pp. 402-412
-
-
Hynes, R.O.1
-
35
-
-
0032587606
-
Synergistic activities of alpha3 and alpha6 integrins are required during apical ectodermal ridge formation and organogenesis in the mouse
-
De Arcangelis A, Mark M, Kreidberg J, Sorokin L, Georges-Labouesse E. Synergistic activities of alpha3 and alpha6 integrins are required during apical ectodermal ridge formation and organogenesis in the mouse. Development 1999;126:3957-3968. (Pubitemid 29440492)
-
(1999)
Development
, vol.126
, Issue.17
, pp. 3957-3968
-
-
De Arcangelis, A.1
Mark, M.2
Kreidberg, J.3
Sorokin, L.4
Georges-Labouesse, E.5
-
36
-
-
70350215580
-
The role of integrin alpha8beta1 in fetal lung morphogenesis and injury
-
Benjamin JT, Gaston DC, Halloran BA, Schnapp LM, Zent R, Prince LS. The role of integrin alpha8beta1 in fetal lung morphogenesis and injury. Dev Biol 2009;335:407-417.
-
(2009)
Dev Biol
, vol.335
, pp. 407-417
-
-
Benjamin, J.T.1
Gaston, D.C.2
Halloran, B.A.3
Schnapp, L.M.4
Zent, R.5
Prince, L.S.6
-
37
-
-
0032841712
-
alpha3beta1 integrin regulates epithelial cytoskeletal organization
-
Wang Z, Symons JM, Goldstein SL, McDonald A, Miner JH, Kreidberg JA. (alpha)3(beta)1 integrin regulates epithelial cytoskeletal organization. J Cell Sci 1999;112:2925-2935. (Pubitemid 29430038)
-
(1999)
Journal of Cell Science
, vol.112
, Issue.17
, pp. 2925-2935
-
-
Wang, Z.1
Symons, J.M.2
Goldstein, S.L.3
McDonald, A.4
Miner, J.H.5
Kreidberg, J.A.6
-
38
-
-
34249812058
-
Pulmonary dysfunction and impaired granulocyte homeostasis result in poor survival of Jam-C-deficient mice
-
DOI 10.1002/path.2163
-
Imhof BA, Zimmerli C, Gliki G, Ducrest-Gay D, Juillard P, Hammel P, Adams R, Aurrand-Lions M. Pulmonary dysfunction and impaired granulocyte homeostasis result in poor survival of JAM-C-deficient mice. J Pathol 2007;212:198-208. (Pubitemid 46852098)
-
(2007)
Journal of Pathology
, vol.212
, Issue.2
, pp. 198-208
-
-
Imhof, B.A.1
Zimmerli, C.2
Gliki, G.3
Ducrest-Gay, D.4
Juillard, P.5
Hammel, P.6
Adams, R.7
Aurrand-Lions, M.8
-
39
-
-
0033524949
-
The integrin alphavbeta6 binds and activates latent TGFbeta1: A mechanism for regulating pulmonary inflammation and fibrosis
-
DOI 10.1016/S0092-8674(00)80545-0
-
Munger JS, Huang X, Kawakatsu H, Griffiths MJ, Dalton SL, Wu J, Pittet JF, Kaminski N, Garat C, Matthay MA, et al. The integrin alpha V beta 6 binds and activates latent TGF beta 1: A mechanism for regulating pulmonary inflammation and fibrosis. Cell 1999;96:319-328. (Pubitemid 29077586)
-
(1999)
Cell
, vol.96
, Issue.3
, pp. 319-328
-
-
Munger, J.S.1
Huang, X.2
Kawakatsu, H.3
Griffiths, M.J.D.4
Dalton, S.L.5
Wu, J.6
Pittet, J.-F.7
Kaminski, N.8
Garat, C.9
Matthay, M.A.10
Rifkin, D.B.11
Sheppard, D.12
-
40
-
-
2942748411
-
Deficiency of CD11b or CD11d results in reduced staphylococcal enterotoxin-induced T cell response and T cell phenotypic changes
-
Wu H, Rodgers JR, Perrard X-YD, Perrard JL, Prince JE, Abe Y, Davis BK, Dietsch G, Smith CW, Ballantyne CM. Deficiency of CD11B or CD11D results in reduced staphylococcal enterotoxin-induced T cell response and T cell phenotypic changes. J Immunol 2004;173:297-306. (Pubitemid 38797354)
-
(2004)
Journal of Immunology
, vol.173
, Issue.1
, pp. 297-306
-
-
Wu, H.1
Rodgers, J.R.2
Perrard, X.-Y.D.3
Perrard, J.L.4
Prince, J.E.5
Abe, Y.6
Davis, B.K.7
Dietsch, G.8
Smith, C.W.9
Ballantyne, C.M.10
-
41
-
-
78349238517
-
Beta6 integrin subunit deficiency alleviates lung injury in a mouse model of bronchopulmonary dysplasia
-
Hogmalm A, Sheppard D, Lappalainen U, Bry K. Beta6 integrin subunit deficiency alleviates lung injury in a mouse model of bronchopulmonary dysplasia. Am J Respir Cell Mol Biol 2010;43:88-98.
-
(2010)
Am J Respir Cell Mol Biol
, vol.43
, pp. 88-98
-
-
Hogmalm, A.1
Sheppard, D.2
Lappalainen, U.3
Bry, K.4
-
42
-
-
0033948027
-
Fatal bilateral chylothorax in mice lacking the integrin alpha9beta1
-
DOI 10.1128/MCB.20.14.5208-5215.2000
-
Huang XZ, Wu JF, Ferrando R, Lee JH, Wang YL, Farese RV, Sheppard D. Fatal bilateral chylothorax in mice lacking the integrin alpha9beta1. Mol Cell Biol 2000;20:5208-5215. (Pubitemid 30431573)
-
(2000)
Molecular and Cellular Biology
, vol.20
, Issue.14
, pp. 5208-5215
-
-
Huang, X.Z.1
Wu, J.F.2
Ferrando, R.3
Lee, J.H.4
Wang, Y.L.5
Farese Jr., R.V.6
Sheppard, D.7
-
43
-
-
33644620397
-
Lung development in laminin gamma2 deficiency: Abnormal tracheal hemidesmosomes with normal branching morphogenesis and epithelial differentiation
-
Nguyen NM, Pulkkinen L, Schlueter JA, Meneguzzi G, Uitto J, Senior RM. Lung development in laminin gamma2 deficiency: abnormal tracheal hemidesmosomes with normal branching morphogenesis and epithelial differentiation. Respir Res 2006;7:28.
-
(2006)
Respir Res
, vol.7
, pp. 28
-
-
Nguyen, N.M.1
Pulkkinen, L.2
Schlueter, J.A.3
Meneguzzi, G.4
Uitto, J.5
Senior, R.M.6
-
44
-
-
7644230747
-
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: A tight junction disease
-
DOI 10.1053/j.gastro.2004.07.022, PII S0016508504013307
-
Hadj-Rabia S, Baala L, Vabres P, Hamel-Teillac D, Jacquemin E, Fabre M, Lyonnet S, De Prost Y, Munnich A, Hadchouel M, et al. Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology 2004;127:1386-1390. (Pubitemid 39457765)
-
(2004)
Gastroenterology
, vol.127
, Issue.5
, pp. 1386-1390
-
-
Hadj-Rabia, S.1
Baala, L.2
Vabres, P.3
Hamel-Teillac, D.4
Jacquemin, E.5
Fabre, M.6
Lyonnet, S.7
De Prost, Y.8
Munnich, A.9
Hadchouel, M.10
Smahi, A.11
-
45
-
-
33646377173
-
Confirmation of the origin of NISCH syndrome
-
DOI 10.1002/humu.20333
-
Feldmeyer L, Huber M, Fellmann F, Beckmann JS, Frenk E, Hohl D. Confirmation of the origin of nisch syndrome. Hum Mutat 2006;27:408-410. (Pubitemid 43673326)
-
(2006)
Human Mutation
, vol.27
, Issue.5
, pp. 408-410
-
-
Feldmeyer, L.1
Huber, M.2
Fellmann, F.3
Beckmann, J.S.4
Frenk, E.5
Hohl, D.6
-
46
-
-
0037128938
-
Claudin-based tight junctions are crucial for the mammalian epidermal barrier: A lesson from claudin-1-deficient mice
-
DOI 10.1083/jcb.200110122
-
Furuse M, Hata M, Furuse K, Yoshida Y, Haratake A, Sugitani Y, Noda T, Kubo A, Tsukita S. Claudin-based tight junctions are crucial for the mammalian epidermal barrier: a lesson from claudin-1-deficient mice. J Cell Biol 2002;156:1099-1111. (Pubitemid 34839858)
-
(2002)
Journal of Cell Biology
, vol.156
, Issue.6
, pp. 1099-1111
-
-
Furuse, M.1
Hata, M.2
Furuse, K.3
Yoshida, Y.4
Haratake, A.5
Sugitani, Y.6
Noda, T.7
Kubo, A.8
Tsukita, S.9
-
47
-
-
0037648580
-
Size-selective loosening of the blood-brain barrier in claudin-5-deficient mice
-
DOI 10.1083/jcb.200302070
-
Nitta T. Size-selective loosening of the blood-brain barrier in claudin-5-deficient mice. J Cell Biol 2003;161:653-660. (Pubitemid 36578587)
-
(2003)
Journal of Cell Biology
, vol.161
, Issue.3
, pp. 653-660
-
-
Nitta, T.1
Hata, M.2
Gotoh, S.3
Seo, Y.4
Sasaki, H.5
Hashimoto, N.6
Furuse, M.7
Tsukita, S.8
-
48
-
-
70149108589
-
A claudin-9-based ion permeability barrier is essential for hearing
-
Nakano Y, Kim SH, Kim HM, Sanneman JD, Zhang Y, Smith RJ, Marcus DC, Wangemann P, Nessler RA, Banfi B. A claudin-9-based ion permeability barrier is essential for hearing. PLoS Genet 2009;5:e1000610.
-
(2009)
PLoS Genet
, vol.5
-
-
Nakano, Y.1
Kim, S.H.2
Kim, H.M.3
Sanneman, J.D.4
Zhang, Y.5
Smith, R.J.6
Marcus, D.C.7
Wangemann, P.8
Nessler, R.A.9
Banfi, B.10
-
49
-
-
0001636804
-
CNS Myelin and sertoli cell tight junction strands are absent in OSP/claudin-11 null mice
-
Gow A, Southwood CM, Li JS, Pariali M, Riordan GP, Brodie SE, Danias J, Bronstein JM, Kachar B, Lazzarini RA. CNS myelin and sertoli cell tight junction strands are absent in OSP/claudin-11 null mice. Cell 1999;99:649-659. (Pubitemid 30004640)
-
(1999)
Cell
, vol.99
, Issue.6
, pp. 649-659
-
-
Gow, A.1
Southwood, C.M.2
Li, J.S.3
Pariali, M.4
Riordan, G.P.5
Brodie, S.E.6
Danias, J.7
Bronstein, J.M.8
Kachar, B.9
Lazzarini, R.A.10
-
50
-
-
20344365338
-
Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro
-
DOI 10.1002/humu.20172
-
Wattenhofer M, Reymond A, Falciola V, Charollais A, Caille D, Borel C, Lyle R, Estivill X, Petersen MB, Meda P, et al. Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro. Hum Mutat 2005;25:543-549. (Pubitemid 40780988)
-
(2005)
Human Mutation
, vol.25
, Issue.6
, pp. 543-549
-
-
Wattenhofer, M.1
Reymond, A.2
Falciola, V.3
Charollais, A.4
Caille, D.5
Borel, C.6
Lyle, R.7
Estivill, X.8
Petersen, M.B.9
Meda, P.10
Antonarakis, S.E.11
-
51
-
-
0034863148
-
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Weber S, Schneider L, Peters M, Misselwitz J, Rönnefarth G, Böswald M, Bonzel KE, Seeman T, Suláková T, Kuwertz-Bröking E, et al. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 2001;12:1872-1881. (Pubitemid 32801362)
-
(2001)
Journal of the American Society of Nephrology
, vol.12
, Issue.9
, pp. 1872-1881
-
-
Weber, S.1
Schneider, L.2
Peters, M.3
Misselwitz, J.4
Ronnefarth, G.5
Boswald, M.6
Bonzel, K.E.7
Seeman, T.8
Sulakova, T.9
Kuwertz-Broking, E.10
Gregoric, A.11
Palcoux, J.-B.12
Tasic, V.13
Manz, F.14
Scharer, K.15
Seyberth, H.W.16
Konrad, M.17
-
52
-
-
17544399838
-
A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting
-
DOI 10.1086/380418
-
Müller D, Kausalya PJ, Claverie-Martin F, Meij IC, Eggert P, Garcia-Nieto V, Hunziker W. A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Am J Hum Genet 2003;73:1293-1301. (Pubitemid 38037423)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.6
, pp. 1293-1301
-
-
Muller, D.1
Kausalya, P.J.2
Claverie-Martin, F.3
Meij, I.C.4
Eggert, P.5
Garcia-Nieto, V.6
Hunziker, W.7
-
53
-
-
57349133000
-
Salt and acid-base metabolism in claudin-16 knockdown mice: Impact for the pathophysiology of FHHNC patients
-
Himmerkus N, Shan Q, Goerke B, Hou J, Goodenough DA, Bleich M. Salt and acid-base metabolism in claudin-16 knockdown mice: impact for the pathophysiology of FHHNC patients. Am J Physiol Renal Physiol 2008;295:F1641-F1647.
-
(2008)
Am J Physiol Renal Physiol
, vol.295
-
-
Himmerkus, N.1
Shan, Q.2
Goerke, B.3
Hou, J.4
Goodenough, D.A.5
Bleich, M.6
-
54
-
-
33751097262
-
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
-
DOI 10.1086/508617
-
Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, et al. Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 2006;79:949-957. (Pubitemid 44763409)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.5
, pp. 949-957
-
-
Konrad, M.1
Schaller, A.2
Seelow, D.3
Pandey, A.V.4
Waldegger, S.5
Lesslauer, A.6
Vitzthum, H.7
Suzuki, Y.8
Luk, J.M.9
Becker, C.10
Schlingmann, K.P.11
Schmid, M.12
Rodriguez-Soriano, J.13
Ariceta, G.14
Cano, F.15
Enriquez, R.16
Juppner, H.17
Bakkaloglu, S.A.18
Hediger, M.A.19
Gallati, S.20
Neuhauss, S.C.F.21
Nurnberg, P.22
Weber, S.23
more..
-
55
-
-
21044437802
-
Tight junctions in Schwann cells of peripheral myelinated axons: A lesson from claudin-19-deficient mice
-
DOI 10.1083/jcb.200501154
-
Miyamoto T. Tight junctions in Schwann cells of peripheral myelinated axons: a lesson from claudin-19-deficient mice. J Cell Biol 2005;169:527-538. (Pubitemid 40686702)
-
(2005)
Journal of Cell Biology
, vol.169
, Issue.3
, pp. 527-538
-
-
Miyamoto, T.1
Morita, K.2
Takemoto, D.3
Takeuchi, K.4
Kitano, Y.5
Miyakawa, T.6
Nakayama, K.7
Okamura, Y.8
Sasaki, H.9
Miyachi, Y.10
Furuse, M.11
Tsukita, S.12
-
56
-
-
33845190613
-
Tricellulin is a tight-junction protein necessary for hearing
-
DOI 10.1086/510022
-
Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson J, et al. Tricellulin is a tight-junction protein necessary for hearing. Am J Hum Genet 2006;79:1040-1051. (Pubitemid 44853475)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.6
, pp. 1040-1051
-
-
Riazuddin, S.1
Ahmed, Z.M.2
Fanning, A.S.3
Lagziel, A.4
Kitajiri, S.-I.5
Ramzan, K.6
Khan, S.N.7
Chattaraj, P.8
Friedman, P.L.9
Anderson, J.M.10
Belyantseva, I.A.11
Forge, A.12
Riazuddin, S.13
Friedman, T.B.14
-
57
-
-
38949172779
-
Splice-site mutations in the tric gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families
-
Chishti MS, Bhatti A, Tamim S, Lee K, McDonald ML, Leal SM, Ahmad W. Splice-site mutations in the tric gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families. J Hum Genet 2008;53:101-105.
-
(2008)
J Hum Genet
, vol.53
, pp. 101-105
-
-
Chishti, M.S.1
Bhatti, A.2
Tamim, S.3
Lee, K.4
McDonald, M.L.5
Leal, S.M.6
Ahmad, W.7
-
58
-
-
0037994064
-
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT
-
DOI 10.1038/ng1147
-
Carlton V, Harris B, Puffenberger E, Batta A, Knisely A, Robinson D, Strauss K, Shneider B, Lim W, Salen G, et al. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet 2003;34:91-96. (Pubitemid 36548797)
-
(2003)
Nature Genetics
, vol.34
, Issue.1
, pp. 91-96
-
-
Carlton, V.E.H.1
Harris, B.Z.2
Puffenberger, E.G.3
Batta, A.K.4
Knisely, A.S.5
Robinson, D.L.6
Strauss, K.A.7
Shneider, B.L.8
Lim, W.A.9
Salen, G.10
Morton, D.H.11
Bull, L.N.12
-
59
-
-
40749084863
-
Early embryonic lethality of mice lacking ZO-2, but not ZO-3, reveals critical and nonredundant roles for individual zonula occludens proteins in mammalian development
-
Xu J, Kausalya PJ, Phua DC, Ali SM, Hossain Z, Hunziker W. Early embryonic lethality of mice lacking ZO-2, but not ZO-3, reveals critical and nonredundant roles for individual zonula occludens proteins in mammalian development. Mol Cell Biol 2008;28:1669-1678.
-
(2008)
Mol Cell Biol
, vol.28
, pp. 1669-1678
-
-
Xu, J.1
Kausalya, P.J.2
Phua, D.C.3
Ali, S.M.4
Hossain, Z.5
Hunziker, W.6
-
60
-
-
85047691079
-
Increased DC trafficking to lymph nodes and contact hypersensitivity in junctional adhesion molecule-A - Deficient mice
-
DOI 10.1172/JCI200421231
-
Cera M. Increased DC trafficking to lymph nodes and contact hypersensitivity in junctional adhesion molecule-a-deficient mice. J Clin Invest 2004;114:729-738. (Pubitemid 39578763)
-
(2004)
Journal of Clinical Investigation
, vol.114
, Issue.5
, pp. 729-738
-
-
Cera, M.R.1
Del, P.A.2
Vecchi, A.3
Corada, M.4
Martin-Padura, I.5
Motoike, T.6
Tonetti, P.7
Bazzoni, G.8
Vermi, W.9
Gentili, F.10
Bernasconi, S.11
Sato, T.N.12
Mantovani, A.13
Dejana, E.14
-
61
-
-
22244489661
-
Coxsackievirus and adenovirus receptor is essential for cardiomyocyte development
-
DOI 10.1002/gene.20127
-
Asher DR, Cerny AM, Weiler SR, Horner JW, Keeler ML, Neptune MA, Jones SN, Bronson RT, Depinho RA, Finberg RW. Coxsackievirus and adenovirus receptor is essential for cardiomyocyte development. Genesis 2005;42:77-85. (Pubitemid 40993319)
-
(2005)
Genesis
, vol.42
, Issue.2
, pp. 77-85
-
-
Asher, D.R.1
Cerny, A.M.2
Weiler, S.R.3
Horner, J.W.4
Keeler, M.L.5
Neptune, M.A.6
Jones, S.N.7
Bronson, R.T.8
DePinho, R.A.9
Finberg, R.W.10
-
62
-
-
33645525311
-
Absence of the tight junctional protein AF-6 disrupts epithelial cell-cell junctions and cell polarity during mouse development
-
DOI 10.1016/S0960-9822(99)80392-3
-
Zhadanov AB, Provance DW, Speer CA, Coffin JD, Goss D, Blixt JA, Reichert CM, Mercer JA. Absence of the tight junctional protein AF-6 disrupts epithelial cell-cell junctions and cell polarity during mouse development. Curr Biol 1999;9:880-888. (Pubitemid 29456005)
-
(1999)
Current Biology
, vol.9
, Issue.16
, pp. 880-888
-
-
Zhadanov, A.B.1
Provance Jr., D.W.2
Speer, C.A.3
Coffin, J.D.4
Goss, D.5
Blixt, J.A.6
Reichert, C.M.7
Mercer, J.A.8
-
63
-
-
0034425423
-
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
-
DOI 10.1038/78119
-
Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet 2000;25:427-430. (Pubitemid 32983436)
-
(2000)
Nature Genetics
, vol.25
, Issue.4
, pp. 427-430
-
-
Suzuki, K.1
Hu, D.2
Bustos, T.3
Zlotogora, J.4
Richieri-Costa, A.5
Helms, J.A.6
Spritz, R.A.7
-
64
-
-
0033029710
-
Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer
-
Richards FM, McKee SA, Rajpar MH, Cole TR, Evans DG, Jankowski JA, McKeown C, Sanders DS, Maher ER. Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet 1999;8:607-610. (Pubitemid 29139974)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.4
, pp. 607-610
-
-
Richards, F.M.1
McKee, S.A.2
Rajpar, M.H.3
Cole, T.R.P.4
Evans, D.G.R.5
Jankowski, J.A.6
McKeown, C.7
Sanders, D.S.A.8
Maher, E.R.9
-
65
-
-
19244377605
-
Identification of germ-line E-cadherin mutations in gastric cancer families of European origin
-
Gayther SA, Gorringe KL, Ramus SJ, Huntsman D, Roviello F, Grehan N, Machado JC, Pinto E, Seruca R, Halling K, et al. Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer Res 1998;58:4086-4089. (Pubitemid 28440561)
-
(1998)
Cancer Research
, vol.58
, Issue.18
, pp. 4086-4089
-
-
Gayther, S.A.1
Gorringe, K.L.2
Ramus, S.J.3
Huntsman, D.4
Roviello, F.5
Grehan, N.6
Machado, J.C.7
Pinto, E.8
Seruca, R.9
Halling, K.10
MacLeod, P.11
Powell, S.M.12
Jackson, C.E.13
Ponder, B.A.J.14
Caldas, C.15
-
66
-
-
18344384564
-
Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred
-
DOI 10.1002/humu.10068
-
Oliveira C, Bordin MC, Grehan N, Huntsman D, Suriano G, Machado JC, Kiviluoto T, Aaltonen L, Jackson CE, Seruca R, et al. Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. Hum Mutat 2002;19:510-517. (Pubitemid 34461624)
-
(2002)
Human Mutation
, vol.19
, Issue.5
, pp. 510-517
-
-
Oliveira, C.1
Bordin, M.C.2
Grehan, N.3
Huntsman, D.4
Suriano, G.5
Machado, J.C.6
Kiviluoto, T.7
Aaltonen, L.8
Jackson, C.E.9
Seruca, R.10
Caldas, C.11
-
67
-
-
0037057509
-
E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer
-
Yabuta T, Shinmura K, Tani M, Yamaguchi S, Yoshimura K, Katai H, Nakajima T, Mochiki E, Tsujinaka T, Takami M, et al. E-cadherin gene variants in gastric cancer families whose probands are diagnosed with diffuse gastric cancer. Int J Cancer 2002;101:434-441.
-
(2002)
Int J Cancer
, vol.101
, pp. 434-441
-
-
Yabuta, T.1
Shinmura, K.2
Tani, M.3
Yamaguchi, S.4
Yoshimura, K.5
Katai, H.6
Nakajima, T.7
Mochiki, E.8
Tsujinaka, T.9
Takami, M.10
-
68
-
-
32944469779
-
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer
-
DOI 10.1136/jmg.2005.031385
-
Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, Vekemans M, Hartmann A, Baert-Desurmont S, Alexandre C, et al. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet 2006;43:138-142. (Pubitemid 43259626)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.2
, pp. 138-142
-
-
Frebourg, T.1
Oliveira, C.2
Hochain, P.3
Karam, R.4
Manouvrier, S.5
Graziadio, C.6
Vekemans, M.7
Hartmann, A.8
Baert-Desurmont, S.9
Alexandre, C.10
Lejeune, D.S.11
Marroni, C.12
Martin, C.13
Castedo, S.14
Lovett, M.15
Winston, J.16
Machado, J.C.17
Attie, T.18
Jabs, E.W.19
Cai, J.20
Pellerin, P..21
Triboulet, J.P.22
Scotte, M.23
Le, P.F.24
Hedouin, A.25
Carneiro, F.26
Blayau, M.27
Seruca, R.28
more..
-
69
-
-
0028059290
-
E-cadherin null mutant embryos fail to form a trophectoderm epithelium
-
DOI 10.1073/pnas.91.17.8263
-
Larue L, Ohsugi M, Hirchenhain J, Kemler R. E-cadherin null mutant embryos fail to form a trophectoderm epithelium. Proc Natl Acad Sci USA 1994;91:8263-8267. (Pubitemid 24253927)
-
(1994)
Proceedings of the National Academy of Sciences of the United States of America
, vol.91
, Issue.17
, pp. 8263-8267
-
-
Larue, L.1
Ohsugi, M.2
Hirchenhain, J.3
Kemler, R.4
-
70
-
-
0031042948
-
Developmental defects in mouse embryos lacking N-cadherin
-
DOI 10.1006/dbio.1996.8443
-
Radice GL, Rayburn H, Matsunami H, Knudsen KA, Takeichi M, Hynes RO. Developmental defects in mouse embryos lacking N-cadherin. Dev Biol 1997;181:64-78. (Pubitemid 27079635)
-
(1997)
Developmental Biology
, vol.181
, Issue.1
, pp. 64-78
-
-
Radice, G.L.1
Rayburn, H.2
Matsunami, H.3
Knudsen, K.A.4
Takeichi, M.5
Hynes, R.O.6
-
71
-
-
0034795548
-
Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin
-
DOI 10.1038/ng716
-
Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, Shalata A, Anbinder Y, Leibu R, Perlman I, et al. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nat Genet 2001;29:134-136. (Pubitemid 32952646)
-
(2001)
Nature Genetics
, vol.29
, Issue.2
, pp. 134-136
-
-
Sprecher, E.1
Bergman, R.2
Richard, G.3
Lurie, R.4
Shalev, S.5
Petronius, D.6
Shalata, A.7
Anbinder, Y.8
Leibu, R.9
Perlman, I.10
Cohen, N.11
Szargel, R.12
-
72
-
-
0036444139
-
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy
-
DOI 10.1046/j.1523-1747.2002.19528.x
-
Indelman M, Bergman R, Lurie R, Richard G, Miller B, Petronius D, Ciubutaro D, Leibu R, Sprecher E. A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. J Invest Dermatol 2002;119:1210-1213. (Pubitemid 35430503)
-
(2002)
Journal of Investigative Dermatology
, vol.119
, Issue.5
, pp. 1210-1213
-
-
Indelman, M.1
Bergman, R.2
Lurie, R.3
Richard, G.4
Miller, B.5
Petronius, D.6
Ciubutaro, D.7
Leibu, R.8
Sprecher, E.9
-
73
-
-
17144365430
-
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
-
DOI 10.1136/jmg.2004.027821
-
Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet 2005;42:292-298. (Pubitemid 40523950)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.4
, pp. 292-298
-
-
Kjaer, K.W.1
Hansen, L.2
Schwabe, G.C.3
Marques-De-Faria, A.P.4
Eiberg, H.5
Mundlos, S.6
Tommerup, N.7
Rosenberg, T.8
-
74
-
-
0030669469
-
Precocious mammary gland development in P-cadherin-deficient mice
-
DOI 10.1083/jcb.139.4.1025
-
Radice GL, Ferreira-Cornwell MC, Robinson SD, Rayburn H, Chodosh LA, Takeichi M, Hynes RO. Precocious mammary gland development in P-cadherin-deficient mice. J Cell Biol 1997;139:1025-1032. (Pubitemid 27508572)
-
(1997)
Journal of Cell Biology
, vol.139
, Issue.4
, pp. 1025-1032
-
-
Radice, G.L.1
Ferreira-Cornwell, M.C.2
Robinson, S.D.3
Rayburn, H.4
Chodosh, L.A.5
Takeichi, M.6
Hynes, R.O.7
-
75
-
-
32044453541
-
p120-catenin mediates inflammatory responses in the skin
-
DOI 10.1016/j.cell.2005.11.043, PII S0092867406000080
-
Perez-Moreno M, Davis MA, Wong E, Pasolli HA, Reynolds AB, Fuchs E. P120-catenin mediates inflammatory responses in the skin. Cell 2006;124:631-644. (Pubitemid 43199446)
-
(2006)
Cell
, vol.124
, Issue.3
, pp. 631-644
-
-
Perez-Moreno, M.1
Davis, M.A.2
Wong, E.3
Pasolli, H.A.4
Reynolds, A.B.5
Fuchs, E.6
-
76
-
-
0035936807
-
Hyperproliferation and defects in epithelial polarity upon conditional ablation of alpha-catenin in skin
-
DOI 10.1016/S0092-8674(01)00246-X
-
Vasioukhin V, Bauer C, Degenstein L, Wise B, Fuchs E. Hyperproliferation and defects in epithelial polarity upon conditional ablation of alpha-catenin in skin. Cell 2001;104:605-617. (Pubitemid 32201954)
-
(2001)
Cell
, vol.104
, Issue.4
, pp. 605-617
-
-
Vasioukhin, V.1
Bauer, C.2
Degenstein, L.3
Wise, B.4
Fuchs, E.5
-
77
-
-
0036108620
-
Cadherin and catenin alterations in human cancer
-
DOI 10.1002/gcc.10083
-
Hajra K, Fearon E. Cadherin and catenin alterations in human cancer. Genes Chromosomes Cancer 2002;34:255-268. (Pubitemid 34553304)
-
(2002)
Genes Chromosomes and Cancer
, vol.34
, Issue.3
, pp. 255-268
-
-
Hajra, K.M.1
Fearon, E.R.2
-
78
-
-
0028971954
-
Lack of beta-catenin affects mouse development at gastrulation
-
Haegel H, Larue L, Ohsugi M, Fedorov L, Herrenknecht K, Kemler R. Lack of beta-catenin affects mouse development at gastrulation. Development 1995;121:3529-3537. (Pubitemid 3000446)
-
(1995)
Development
, vol.121
, Issue.11
, pp. 3529-3537
-
-
Haegel, H.1
Larue, L.2
Ohsugi, M.3
Fedorov, L.4
Herrenknecht, K.5
Kemler, R.6
-
79
-
-
0035956432
-
Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation
-
DOI 10.1083/jcb.200105009
-
Chidgey M. Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation. J Cell Biol 2001;155:821-832. (Pubitemid 34286234)
-
(2001)
Journal of Cell Biology
, vol.155
, Issue.5
, pp. 821-832
-
-
Chidgey, M.1
Brakebusch, C.2
Gustafsson, E.3
Cruchley, A.4
Hail, C.5
Kirk, S.6
Merritt, A.7
North, A.8
Tselepis, C.9
Hewitt, J.10
Byrne, C.11
Fassler, R.12
Garrod, D.13
-
80
-
-
33751073197
-
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2
-
DOI 10.1086/509122
-
Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, McKenna WJ. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet 2006;79:978-984. (Pubitemid 44763413)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.5
, pp. 978-984
-
-
Syrris, P.1
Ward, D.2
Evans, A.3
Asimaki, A.4
Gandjbakhch, E.5
Sen-Chowdhry, S.6
McKenna, W.J.7
-
81
-
-
33845229562
-
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy
-
DOI 10.1086/509044
-
Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, et al. Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2006;79:1081-1088. (Pubitemid 44853479)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.6
, pp. 1081-1088
-
-
Heuser, A.1
Plovie, E.R.2
Ellinor, P.T.3
Grossmann, K.S.4
Shin, J.T.5
Wichter, T.6
Basson, C.T.7
Lerman, B.B.8
Sasse-Klaassen, S.9
Thierfelder, L.10
MacRae, C.A.11
Gerull, B.12
-
82
-
-
33644984369
-
Desmocollin 3 is required for pre-implantation development of the mouse embryo
-
Den Z, Cheng X, Merched-Sauvage M, Koch PJ. Desmocollin 3 is required for pre-implantation development of the mouse embryo. J Cell Sci 2006;119:482-489.
-
(2006)
J Cell Sci
, vol.119
, pp. 482-489
-
-
Den, Z.1
Cheng, X.2
Merched-Sauvage, M.3
Koch, P.J.4
-
83
-
-
33745231792
-
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
DOI 10.1086/504393
-
Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, et al. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet 2006;79:136-142. (Pubitemid 43927384)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.1
, pp. 136-142
-
-
Awad, M.M.1
Dalal, D.2
Cho, E.3
Amat-Alarcon, N.4
James, C.5
Tichnell, C.6
Tucker, A.7
Russell, S.D.8
Bluemke, D.A.9
Dietz, H.C.10
Calkins, H.11
Judge, D.P.12
-
84
-
-
33645527574
-
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
-
Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 2006;113:1171-1179.
-
(2006)
Circulation
, vol.113
, pp. 1171-1179
-
-
Pilichou, K.1
Nava, A.2
Basso, C.3
Beffagna, G.4
Bauce, B.5
Lorenzon, A.6
Frigo, G.7
Vettori, A.8
Valente, M.9
Towbin, J.10
-
85
-
-
34249657898
-
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: A genotype-phenotype characterization of familial disease
-
DOI 10.1093/eurheartj/ehl380
-
Syrris P, Ward D, Asimaki A, Evans A, Sen-Chowdhry S, Hughes SE, McKenna WJ. Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. Eur Heart J 2007;28:581-588. (Pubitemid 47355498)
-
(2007)
European Heart Journal
, vol.28
, Issue.5
, pp. 581-588
-
-
Syrris, P.1
Ward, D.2
Asimaki, A.3
Evans, A.4
Sen-Chowdhry, S.5
Hughes, S.E.6
McKenna, W.J.7
-
86
-
-
1842857530
-
Loss of desmoglein 2 suggests essential functions for early embryonic development and proliferation of embryonal stem cells
-
Eshkind L, Tian Q, Schmidt A, Franke WW, Windoffer R, Leube RE. Loss of desmoglein 2 suggests essential functions for early embryonic development and proliferation of embryonal stem cells. Eur J Cell Biol 2002;81:592-598. (Pubitemid 35446792)
-
(2002)
European Journal of Cell Biology
, vol.81
, Issue.11
, pp. 592-598
-
-
Eshkind, L.1
Tian, Q.2
Schmidt, A.3
Franke, W.W.4
Windoffer, R.5
Leube, R.E.6
-
87
-
-
0030902370
-
Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris
-
DOI 10.1083/jcb.137.5.1091
-
Koch PJ, Mahoney MG, Ishikawa H, Pulkkinen L, Uitto J, Shultz L, Murphy GF, Whitaker-Menezes D, Stanley JR. Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris. J Cell Biol 1997;137:1091-1102. (Pubitemid 27251044)
-
(1997)
Journal of Cell Biology
, vol.137
, Issue.5
, pp. 1091-1102
-
-
Koch, P.J.1
Mahoney, M.G.2
Ishikawa, H.3
Pulkkinen, L.4
Uitto, J.5
Shultz, L.6
Murphy, G.F.7
Whitaker-Menezes, D.8
Stanley, J.R.9
-
88
-
-
0037453717
-
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris
-
DOI 10.1016/S0092-8674(03)00273-3
-
Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, et al. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 2003;113:249-260. (Pubitemid 36514975)
-
(2003)
Cell
, vol.113
, Issue.2
, pp. 249-260
-
-
Kljuic, A.1
Bazzi, H.2
Sundberg, J.P.3
Martinez-Mir, A.4
O'Shaughnessy, R.5
Mahoney, M.G.6
Levy, M.7
Montagutelli, X.8
Ahmad, W.9
Aita, V.M.10
Gordon, D.11
Uitto, J.12
Whiting, D.13
Ott, J.14
Fischer, S.15
Gilliam, T.C.16
Jahoda, C.A.B.17
Morris, R.J.18
Panteleyev, A.A.19
Nguyen, V.T.20
Christiano, A.M.21
more..
-
89
-
-
0032930569
-
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
-
DOI 10.1093/hmg/8.1.143
-
Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 1999;8:143-148. (Pubitemid 29039060)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.1
, pp. 143-148
-
-
Keith, D.1
Armstrong, B.2
McKenna, K.E.3
Purkis, P.E.4
Green, K.J.5
Eady, R.A.J.6
Leigh, I.M.7
Hughes, A.E.8
-
90
-
-
18644363134
-
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
-
DOI 10.1086/344208
-
Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2002;71:1200-1206. (Pubitemid 35305239)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.5
, pp. 1200-1206
-
-
Rampazzo, A.1
Nava, A.2
Malacrida, S.3
Beffagna, G.4
Bauce, B.5
Rossi, V.6
Zimbello, R.7
Simionati, B.8
Basso, C.9
Thiene, G.10
Towbin, J.A.11
Danieli, G.A.12
-
91
-
-
0036178690
-
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
-
DOI 10.1046/j.0022-202x.2001.01664.x
-
Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, et al. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 2002;118:232-238. (Pubitemid 34158475)
-
(2002)
Journal of Investigative Dermatology
, vol.118
, Issue.2
, pp. 232-238
-
-
Whittock, N.V.1
Wan, H.2
Morley, S.M.3
Garzon, M.C.4
Kristal, L.5
Hyde, P.6
McLean, W.H.I.7
Pulkkinen, L.8
Uitto, J.9
Christiano, A.M.10
Eady, R.A.J.11
McGrath, J.A.12
-
92
-
-
25444463595
-
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
-
DOI 10.1086/496901
-
Jonkman MF, Pasmooij AM, Pasmans SG, van den Berg MP, Ter Horst HJ, Timmer A, Pas HH. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 2005;77:653-660. (Pubitemid 41361612)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.4
, pp. 653-660
-
-
Jonkman, M.F.1
Pasmooij, A.M.G.2
Pasmans, S.G.M.A.3
Van Den, B.M.P.4
Ter, H.H.J.5
Timmer, A.6
Pas, H.H.7
-
93
-
-
33646558843
-
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a naxos-like syndrome
-
Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, et al. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a naxos-like syndrome. J Med Genet 2006;43:e5.
-
(2006)
J Med Genet
, vol.43
-
-
Uzumcu, A.1
Norgett, E.E.2
Dindar, A.3
Uyguner, O.4
Nisli, K.5
Kayserili, H.6
Sahin, S.E.7
Dupont, E.8
Severs, N.J.9
Leigh, I.M.10
-
94
-
-
33748741625
-
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
DOI 10.1161/01.RES.0000241482.19382.c6, PII 0000301220060915000012
-
Yang Z, Bowles NE, Scherer SE, Taylor MD, Kearney DL, Ge S, Nadvoretskiy VV, DeFreitas G, Carabello B, Brandon LI, et al. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res 2006;99:646-655. (Pubitemid 44401456)
-
(2006)
Circulation Research
, vol.99
, Issue.6
, pp. 646-655
-
-
Yang, Z.1
Bowles, N.E.2
Scherer, S.E.3
Taylor, M.D.4
Kearney, D.L.5
Ge, S.6
Nadvoretskiy, V.V.7
DeFreitas, G.8
Carabello, B.9
Brandon, L.I.10
Godsel, L.M.11
Green, K.J.12
Saffitz, J.E.13
Li, H.14
Danieli, G.A.15
Calkins, H.16
Marcus, F.17
Towbin, J.A.18
-
95
-
-
0034326902
-
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
-
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000;9:2761-2766.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2761-2766
-
-
Norgett, E.E.1
Hatsell, S.J.2
Carvajal-Huerta, L.3
Cabezas, J.C.4
Common, J.5
Purkis, P.E.6
Whittock, N.7
Leigh, I.M.8
Stevens, H.P.9
Kelsell, D.P.10
-
96
-
-
0035066688
-
Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature
-
Gallicano GI, Bauer C, Fuchs E. Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature. Development 2001;128:929-941. (Pubitemid 32288203)
-
(2001)
Development
, vol.128
, Issue.6
, pp. 929-941
-
-
Gallicano, G.I.1
Bauer, C.2
Fuchs, E.3
-
97
-
-
20644437528
-
Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage
-
DOI 10.1083/jcb.143.7.2009
-
Gallicano GI, Kouklis P, Bauer C, Yin M, Vasioukhin V, Degenstein L, Fuchs E. Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol 1998;143:2009-2022. (Pubitemid 29022620)
-
(1998)
Journal of Cell Biology
, vol.143
, Issue.7
, pp. 2009-2022
-
-
Ian, G.G.1
Kouklis, P.2
Bauer, C.3
Yin, M.4
Vasioukhin, V.5
Degenstein, L.6
Fuchs, E.7
-
98
-
-
0033832770
-
Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
-
Whittock NV, Haftek M, Angoulvant N, Wolf F, Perrot H, Eady RA, McGrath JA. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol 2000;115:368-374.
-
(2000)
J Invest Dermatol
, vol.115
, pp. 368-374
-
-
Whittock, N.V.1
Haftek, M.2
Angoulvant, N.3
Wolf, F.4
Perrot, H.5
Eady, R.A.6
McGrath, J.A.7
-
99
-
-
11444264507
-
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
-
DOI 10.1038/ng1461
-
Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 2004;36:1162-1164. (Pubitemid 41288964)
-
(2004)
Nature Genetics
, vol.36
, Issue.11
, pp. 1162-1164
-
-
Gerull, B.1
Heuser, A.2
Wichter, T.3
Paul, M.4
Basson, C.T.5
McDermott, D.A.6
Lerman, B.B.7
Markowitz, S.M.8
Ellinor, P.T.9
MacRae, C.A.10
Peters, S.11
Grossmann, K.S.12
Michely, B.13
Sasse-Klaassen, S.14
Birchmeier, W.15
Dietz, R.16
Breithardt, G.17
Schulze-Bahr, E.18
Thierfelder, L.19
-
100
-
-
5444235947
-
Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation
-
DOI 10.1083/jcb.200402096
-
Grossmann KS, Grund C, Huelsken J, Behrend M, Erdmann B, Franke WW, Birchmeier W. Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol 2004;167:149-160. (Pubitemid 39363422)
-
(2004)
Journal of Cell Biology
, vol.167
, Issue.1
, pp. 149-160
-
-
Grossmann, K.S.1
Grund, C.2
Huelsken, J.3
Behrend, M.4
Erdmann, B.5
Franke, W.W.6
Birchmeier, W.7
-
101
-
-
0034679297
-
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
-
McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (naxos disease). Lancet 2000;355:2119-2124. (Pubitemid 30364661)
-
(2000)
Lancet
, vol.355
, Issue.9221
, pp. 2119-2124
-
-
McKoy, G.1
Protonotarios, N.2
Crosby, A.3
Tsatsopoulou, A.4
Anastasakis, A.5
Coonar, A.6
Norman, M.7
Baboonian, C.8
Jeffery, S.9
McKenna, W.J.10
-
102
-
-
35348913125
-
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy
-
DOI 10.1086/521633
-
Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2007;81:964-973. (Pubitemid 47580249)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.5
, pp. 964-973
-
-
Asimaki, A.1
Syrris, P.2
Wichter, T.3
Matthias, P.4
Saffitz, J.E.5
McKenna, W.J.6
-
103
-
-
0029121987
-
Mutations in the 180-KD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
-
McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RA, Uitto J. Mutations in the 180-KD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 1995;11:83-86.
-
(1995)
Nat Genet
, vol.11
, pp. 83-86
-
-
McGrath, J.A.1
Gatalica, B.2
Christiano, A.M.3
Li, K.4
Owaribe, K.5
McMillan, J.R.6
Eady, R.A.7
Uitto, J.8
-
104
-
-
0031019014
-
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa
-
Gatalica B, Pulkkinen L, Li K, Kuokkanen K, Ryynänen M, McGrath JA, Uitto J. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet 1997;60:352-365. (Pubitemid 27058406)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.2
, pp. 352-365
-
-
Gatalica, B.1
Pulkkinen, L.2
Li, K.3
Kuokkanen, K.4
Ryynanen, M.5
McGrath, J.A.6
Uitto, J.7
-
105
-
-
0028930755
-
180-KD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa
-
Jonkman MF, de Jong MC, Heeres K, Pas HH, van der Meer JB, Owaribe K, Martinez de Velasco AM, Niessen CM, Sonnenberg A. 180-KD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest 1995;95:1345-1352.
-
(1995)
J Clin Invest
, vol.95
, pp. 1345-1352
-
-
Jonkman, M.F.1
De Jong, M.C.2
Heeres, K.3
Pas, H.H.4
Van Der Meer, J.B.5
Owaribe, K.6
Martinez De Velasco, A.M.7
Niessen, C.M.8
Sonnenberg, A.9
-
106
-
-
0030910826
-
Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: Relation to biological and clinical phenotypes of junctional epidermolysis bullosa
-
Schumann H, Hammami-Hauasli N, Pulkkinen L, Mauviel A, Küster W, Lüthi U, Owaribe K, Uitto J, Bruckner-Tuderman L. Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. Am J Hum Genet 1997;60:1344-1353. (Pubitemid 27258066)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.6
, pp. 1344-1353
-
-
Schumann, H.1
Hammami-Hauasli, N.2
Pulkkinen, L.3
Mauviel, A.4
Kuster, W.5
Luthi, U.6
Owaribe, K.7
Uitto, J.8
Bruckner-Tuderman, L.9
-
107
-
-
0030793302
-
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa
-
Chavanas S, Gache Y, Tadini G, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi G. A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1997;109:74-78. (Pubitemid 27305652)
-
(1997)
Journal of Investigative Dermatology
, vol.109
, Issue.1
, pp. 74-78
-
-
Chavanas, S.1
Gache, Y.2
Tadini, G.3
Pulkkinen, L.4
Uitto, J.5
Ortonne, J.P.6
Meneguzzi, G.7
-
108
-
-
0031930104
-
A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele
-
DOI 10.1046/j.1523-1747.1998.00101.x
-
Darling TN, Koh BB, Bale SJ, Compton JG, Bauer JW, Hintner H, Yancey KB. A deletion mutation in COL17A1 in five Austrian families with generalized atrophic benign epidermolysis bullosa represents propagation of an ancestral allele. J Invest Dermatol 1998;110:170-173. (Pubitemid 28105853)
-
(1998)
Journal of Investigative Dermatology
, vol.110
, Issue.2
, pp. 170-173
-
-
Darling, T.N.1
Koh, B.B.2
Bale, S.J.3
Compton, J.G.4
Bauer, J.W.5
Hintner, H.6
Yancey, K.B.7
-
109
-
-
0031682312
-
Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa
-
DOI 10.1046/j.1523-1747.1998.00325.x
-
Floeth M, Fiedorowicz J, Schacke H, Hammami-Hausli N, Owaribe K, Trueb RM, Bruckner-Tuderman L. Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa. J Invest Dermatol 1998;111:528-533. (Pubitemid 28400105)
-
(1998)
Journal of Investigative Dermatology
, vol.111
, Issue.3
, pp. 528-533
-
-
Floeth, M.1
Fiedorowicz, J.2
Schacke, H.3
Hammami-Hauasli, N.4
Owaribe, K.5
Trueb, R.M.6
Bruckner-Tuderman, L.7
-
110
-
-
0033889376
-
Hemizygosity for a glycine substitution in collagen XVII: Unfolding and degradation of the ectodomain
-
DOI 10.1046/j.1523-1747.2000.00049.x
-
Tasanen K, Floeth M, Schumann H, Bruckner-Tuderman L. Hemizygosity for a glycine substitution in collagen XVII: unfolding and degradation of the ectodomain. J Invest Dermatol 2000;115:207-212. (Pubitemid 30637189)
-
(2000)
Journal of Investigative Dermatology
, vol.115
, Issue.2
, pp. 207-212
-
-
Tasanen, K.1
Floeth, M.2
Schumann, H.3
Bruckner-Tuderman, L.4
-
111
-
-
9344248374
-
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
-
DOI 10.1038/ng0896-450
-
Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G, et al. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 1996;13:450-457. (Pubitemid 26256619)
-
(1996)
Nature Genetics
, vol.13
, Issue.4
, pp. 450-457
-
-
Smith, F.J.D.1
Eady, R.A.J.2
Leigh, I.M.3
McMillan, J.R.4
Rugg, E.L.5
Kelsell, D.P.6
Bryant, S.P.7
Spurr, N.K.8
Geddes, J.F.9
Kirtschig, G.10
Milana, G.11
De Bono, A.G.12
Owaribe, K.13
Wiche, G.14
Pulkkinen, L.15
Uitto, J.16
McLean, W.H.I.17
Lane, E.B.18
-
112
-
-
0029798270
-
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy
-
Pulkkinen L, Smith FJ, Shimizu H, Murata S, Yaoita H, Hachisuka H, Nishikawa T, McLean WH, Uitto J. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum Mol Genet 1996;5:1539-1546. (Pubitemid 26328869)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.10
, pp. 1539-1546
-
-
Pulkkinen, L.1
Smith, F.J.D.2
Shimizu, H.3
Murata, S.4
Yaoita, H.5
Hachisuka, H.6
Nishikawa, T.7
McLean, W.H.I.8
Uitto, J.9
-
113
-
-
9444272226
-
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization
-
McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F, Burgeson RE, Amano S, Hudson DL, Owaribe K, et al. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev 1996;10:1724-1735. (Pubitemid 26272379)
-
(1996)
Genes and Development
, vol.10
, Issue.14
, pp. 1724-1735
-
-
Irwin M.Lean, W.H.1
Pulkkinen, L.2
Smith, F.J.D.3
Rugg, E.L.4
Lane, E.B.5
Bullrich, F.6
Burgeson, R.E.7
Amano, S.8
Hudson, D.L.9
Owaribe, K.10
McGrath, J.A.11
McMillan, J.R.12
Eady, R.A.J.13
Leigh, I.M.14
Christiano, A.M.15
Uitto, J.16
-
114
-
-
0036151350
-
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: Two identical de novo mutations
-
DOI 10.1046/j.0022-202x.2001.01591.x
-
Koss-Harnes D, Høyheim B, Anton-Lamprecht I, Gjesti A, Jørgensen RS, Jahnsen FL, Olaisen B, Wiche G, Gedde-Dahl T. A site-specific plectin mutation causes dominant epidermolysis bullosa simplex ogna: two identical de novo mutations. J Invest Dermatol 2002;118:87-93. (Pubitemid 34107428)
-
(2002)
Journal of Investigative Dermatology
, vol.118
, Issue.1
, pp. 87-93
-
-
Koss-Harnes, D.1
Hoyheim, B.2
Anton-Lamprecht, I.3
Gjesti, A.4
Jorgensen, R.S.5
Jahnsen, F.L.6
Olaisen, B.7
Wiche, G.8
Gedde-Dahl Jr., T.9
-
115
-
-
0346363880
-
Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in Plectin
-
DOI 10.1111/j.1523-1747.2003.12639.x
-
Charlesworth A, Gagnoux-Palacios L, Bonduelle M, Ortonne JP, De Raeve L, Meneguzzi G. Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. J Invest Dermatol 2003;121:1344-1348. (Pubitemid 38005483)
-
(2003)
Journal of Investigative Dermatology
, vol.121
, Issue.6
, pp. 1344-1348
-
-
Charlesworth, A.1
Gagnoux-Palacios, L.2
Bonduelle, M.3
Ortonne, J.-P.4
De Raeve, L.5
Meneguzzi, G.6
-
116
-
-
14644402383
-
Epidermolysis bullossa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)
-
Nakamura H, Sawamura D, GotoM, Nakamura H, McMillan JR, Park S, Kono S, Hasegawa S, Paku S, Nakamura T, et al. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (plec1). J Mol Diagn 2005;7:28-35. (Pubitemid 40310162)
-
(2005)
Journal of Molecular Diagnostics
, vol.7
, Issue.1
, pp. 28-35
-
-
Nakamura, H.1
Sawamura, D.2
Goto, M.3
Nakamura, H.4
McMillan, J.R.5
Park, S.6
Kono, S.7
Hasegawa, S.8
Paku, S.9
Nakamura, T.10
Ogiso, Y.11
Shimizu, H.12
-
117
-
-
11944249876
-
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia
-
DOI 10.1111/j.0022-202X.2004.23564.x
-
Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol 2005;124:111-115. (Pubitemid 40100957)
-
(2005)
Journal of Investigative Dermatology
, vol.124
, Issue.1
, pp. 111-115
-
-
Pfendner, E.1
Uitto, J.2
-
118
-
-
0030721040
-
Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture
-
Andrä K, Lassmann H, Bittner R, Shorny S, Fässler R, Propst F, Wiche G. Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture. Genes Dev 1997;11:3143-3156. (Pubitemid 27528055)
-
(1997)
Genes and Development
, vol.11
, Issue.23
, pp. 3143-3156
-
-
Andra, K.1
Lassmann, H.2
Bittner, R.3
Shorny, S.4
Fassler, R.5
Propst, F.6
Wiche, G.7
-
119
-
-
4944239350
-
CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin
-
DOI 10.1182/blood-2004-04-1512
-
Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ. CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. Blood 2004;104:2217-2223. (Pubitemid 39331816)
-
(2004)
Blood
, vol.104
, Issue.8
, pp. 2217-2223
-
-
Crew, V.K.1
Burton, N.2
Kagan, A.3
Green, C.A.4
Levene, C.5
Flinter, F.6
Brady, R.L.7
Daniels, G.8
Anstee, D.J.9
-
120
-
-
2942744486
-
Characterization of mice lacking the tetraspanin superfamily member CD151
-
DOI 10.1128/MCB.24.13.5978-5988.2004
-
Wright MD, Geary SM, Fitter S, Moseley GW, Lau LM, Sheng KC, Apostolopoulos V, Stanley EG, Jackson DE, Ashman LK. Characterization of mice lacking the tetraspanin superfamily member CD151. Mol Cell Biol 2004;24:5978-5988. (Pubitemid 38787980)
-
(2004)
Molecular and Cellular Biology
, vol.24
, Issue.13
, pp. 5978-5988
-
-
Wright, M.D.1
Geary, S.M.2
Fitter, S.3
Moseley, G.W.4
Lau, L.-M.5
Sheng, K.-C.6
Apostolopoulos, V.7
Stanley, E.G.8
Jackson, D.E.9
Ashman, L.K.10
-
121
-
-
0028895182
-
Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with herlitz junctional epidermolysis bullosa
-
Vidal F, Baudoin C, Miquel C, Galliano MF, Christiano AM, Uitto J, Ortonne JP, Meneguzzi G. Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with herlitz junctional epidermolysis bullosa. Genomics 1995;30:273-280.
-
(1995)
Genomics
, vol.30
, pp. 273-280
-
-
Vidal, F.1
Baudoin, C.2
Miquel, C.3
Galliano, M.F.4
Christiano, A.M.5
Uitto, J.6
Ortonne, J.P.7
Meneguzzi, G.8
-
122
-
-
0030029420
-
Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa
-
DOI 10.1093/hmg/5.2.231
-
Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 1996;5:231-237. (Pubitemid 26036919)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.2
, pp. 231-237
-
-
Kivirikko, S.1
McGrath, J.A.2
Pulkkinen, L.3
Uitto, J.4
Christiano, A.M.5
-
123
-
-
10744230804
-
An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
-
DOI 10.1093/hmg/ddg234
-
McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, et al. An unusual n-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet 2003;12:2395-2409. (Pubitemid 37160883)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.18
, pp. 2395-2409
-
-
McLean, W.H.I.1
Irvine, A.D.2
Hamill, K.J.3
Whittock, N.V.4
Coleman-Campbell, C.M.5
Mellerio, J.E.6
Ashton, G.S.7
Dopping-Hepenstal, P.J.H.8
Eady, R.A.J.9
Jamil, T.10
Phillips, R.J.11
Shabbir, S.G.12
Haroon, T.S.13
Khurshid, K.14
Moore, J.E.15
Page, B.16
Darling, J.17
Atherton, D.J.18
Van Steensel, M.A.M.19
Munro, C.S.20
Smith, F.J.D.21
McGrath, J.A.22
more..
-
124
-
-
0033553883
-
Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells
-
DOI 10.1083/jcb.145.6.1309
-
Ryan MC, Lee K, Miyashita Y, Carter WG. Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells. J Cell Biol 1999;145:1309-1323. (Pubitemid 29293640)
-
(1999)
Journal of Cell Biology
, vol.145
, Issue.6
, pp. 1309-1323
-
-
Ryan, M.C.1
Lee, K.2
Miyashita, Y.3
Carter, W.G.4
-
125
-
-
0030742445
-
Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with herlitz junctional epidermolysis bullosa has implications for mutation detection strategy
-
Pulkkinen L, Meneguzzi G, McGrath JA, Xu Y, Blanchet-Bardon C, Ortonne JP, Christiano AM, Uitto J. Predominance of the recurrent mutation R635x in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa
-
(1997)
Journal of Investigative Dermatology
, vol.109
, Issue.2
, pp. 232-237
-
-
Pulkkinen, L.1
Meneguzzi, G.2
McGrath, J.A.3
Xu, Y.4
Blanchet-Bardon, C.5
Ortonne, J.-P.6
Christiane, A.M.7
Uitto, J.8
-
126
-
-
0028568985
-
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in herlitz junctional epidermolysis bullosa
-
Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in herlitz junctional epidermolysis bullosa. Genomics 1994;24:357-360.
-
(1994)
Genomics
, vol.24
, pp. 357-360
-
-
Pulkkinen, L.1
Christiano, A.M.2
Gerecke, D.3
Wagman, D.W.4
Burgeson, R.E.5
Pittelkow, M.R.6
Uitto, J.7
-
127
-
-
0028919592
-
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa
-
McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RA, Uitto J. Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1995;104:467-474.
-
(1995)
J Invest Dermatol
, vol.104
, pp. 467-474
-
-
McGrath, J.A.1
Pulkkinen, L.2
Christiano, A.M.3
Leigh, I.M.4
Eady, R.A.5
Uitto, J.6
-
128
-
-
0032562076
-
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa
-
DOI 10.1006/bbrc.1998.8180
-
Posteraro P, Sorvillo S, Gagnoux-Palacios L, Angelo C, Paradisi M, Meneguzzi G, Castiglia D, Zambruno G. Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. Biochem Biophys Res Commun 1998;243:758-764. (Pubitemid 28414153)
-
(1998)
Biochemical and Biophysical Research Communications
, vol.243
, Issue.3
, pp. 758-764
-
-
Posteraro, P.1
Sorvillo, S.2
Gagnoux-Palacios, L.3
Angelo, C.4
Paradisi, M.5
Meneguzzi, G.6
Castiglia, D.7
Zambruno, G.8
-
129
-
-
0031930182
-
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing
-
DOI 10.1046/j.1523-1747.1998.00105.x
-
Takizawa Y, Shimizu H, Pulkkinen L, Hiraoka Y, McGrath JA, Suzumori K, Aiso S, Uitto J, Nishikawa T. Novel mutations in the LAMB3 gene shared by two japanese unrelated families with herlitz junctional epidermolysis bullosa, and their application for prenatal testing. J Invest Dermatol 1998;110:174-178. (Pubitemid 28105854)
-
(1998)
Journal of Investigative Dermatology
, vol.110
, Issue.2
, pp. 174-178
-
-
Takizawa, Y.1
Shimizu, H.2
Pulkkinen, L.3
Hiraoka, Y.4
McGrath, J.A.5
Suzumori, K.6
Aiso, S.7
Uitto, J.8
Nishikawa, T.9
-
130
-
-
0035504318
-
Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging
-
Gache Y, Allegra M, Bodemer C, Pisani-Spadafora A, de Prost Y, Ortonne JP, Meneguzzi G. Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. Hum Mol Genet 2001;10:2453-2461. (Pubitemid 33069551)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.21
, pp. 2453-2461
-
-
Gache, Y.1
Allegra, M.2
Bodemer, C.3
Pisani-Spadafora, A.4
De Prost, Y.5
Ortonne, J.P.6
Meneguzzi, G.7
-
131
-
-
34248169121
-
Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3
-
DOI 10.1172/JCI30465
-
Pasmooij AM, Pas HH, Bolling MC, Jonkman MF. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. J Clin Invest 2007;117:1240-1248. (Pubitemid 46718412)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.5
, pp. 1240-1248
-
-
Pasmooij, A.M.G.1
Pas, H.H.2
Bolling, M.C.3
Jonkman, M.F.4
-
132
-
-
0028180092
-
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa
-
Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet 1994;6:293-297.
-
(1994)
Nat Genet
, vol.6
, pp. 293-297
-
-
Pulkkinen, L.1
Christiano, A.M.2
Airenne, T.3
Haakana, H.4
Tryggvason, K.5
Uitto, J.6
-
133
-
-
18344413641
-
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma2 subunit of nicein/kalinin (LAMININ-5)
-
DOI 10.1038/ng0394-299
-
Aberdam D, Galliano MF, Vailly J, Pulkkinen L, Bonifas J, Christiano AM, Tryggvason K, Uitto J, Epstein EH, Ortonne JP. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (laminin-5). Nat Genet 1994;6:299-304. (Pubitemid 24188629)
-
(1994)
Nature Genetics
, vol.6
, Issue.3
, pp. 299-304
-
-
Aberdam, D.1
Galliano, M.-F.2
Vailly, J.3
Pulkkinen, L.4
Bonifas, J.5
Christiano, A.M.6
Tryggvason, K.7
Uitto, J.8
Epstein Jr., E.H.9
Ortonne, J.-P.10
Meneguzzi, G.11
-
134
-
-
0028124729
-
A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa
-
Baudoin C, Miquel C, Gagnoux-Palacios L, Pulkkinen L, Christiano AM, Uitto J, Tadini G, Ortonne JP, Meneguzzi G. A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. Hum Mol Genet 1994;3:1909-1910. (Pubitemid 24310498)
-
(1994)
Human Molecular Genetics
, vol.3
, Issue.10
, pp. 1909-1910
-
-
Baudoin, C.1
Miquel, C.2
Gagnoux-Palacios, L.3
Pulkkinen, L.4
Christiano, A.M.5
Uitto, J.6
Tadini, G.7
Ortonne, J.-P.8
Meneguzzi, G.9
-
135
-
-
0034244572
-
Complete paternal uniparental isodisomy of chromosome 1: A novel mechanism for Herlitz junctional epidermolysis bullosa
-
DOI 10.1046/j.1523-1747.2000.00052.x
-
Takizawa Y, Pulkkinen L, Chao SC, Nakajima H, Nakano Y, Shimizu H, Uitto J. Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol 2000;115:307-311. (Pubitemid 30637203)
-
(2000)
Journal of Investigative Dermatology
, vol.115
, Issue.2
, pp. 307-311
-
-
Takizawa, Y.1
Pulkkinen, L.2
Chao, S.-C.3
Nakajima, H.4
Nakano, Y.5
Shimizu, H.6
Uitto, J.7
-
136
-
-
0034792542
-
Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: Effects on laminin-5 assembly, secretion, and deposition
-
DOI 10.1046/j.0022-202x.2001.01453.x
-
Castiglia D, Posteraro P, Spirito F, Pinola M, Angelo C, Puddu P, Meneguzzi G, Zambruno G. Novel mutations in the LAMC2 gene in non-herlitz junctional epidermolysis bullosa: Effects on laminin-5 assembly, secretion, and deposition. J Invest Dermatol 2001;117:731-739. (Pubitemid 32955605)
-
(2001)
Journal of Investigative Dermatology
, vol.117
, Issue.3
, pp. 731-739
-
-
Castiglia, D.1
Posteraro, P.2
Spirito, F.3
Pinola, M.4
Angelo, C.5
Puddu, P.6
Meneguzzi, G.7
Zambruno, G.8
-
137
-
-
0141887524
-
Targeted Inactivation of Murine Laminin gamma2-Chain Gene Recapitulates Human Junctional Epidermolysis Bullosa
-
DOI 10.1046/j.1523-1747.2003.12515.x
-
Meng X, Klement JF, Leperi DA, Birk DE, Sasaki T, Timpl R, Uitto J, Pulkkinen L. Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa. J Invest Dermatol 2003;121:720-731. (Pubitemid 37239113)
-
(2003)
Journal of Investigative Dermatology
, vol.121
, Issue.4
, pp. 720-731
-
-
Meng, X.1
Klement, J.F.2
Leperi, D.A.3
Birk, D.E.4
Sasaki, T.5
Timpl, R.6
Uitto, J.7
Pulkkinen, L.8
-
138
-
-
0037192309
-
Metavinculin mutations alter actin interaction in dilated cardiomyopathy
-
DOI 10.1161/hc0402.102930
-
Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation 2002;105:431-437. (Pubitemid 34141698)
-
(2002)
Circulation
, vol.105
, Issue.4
, pp. 431-437
-
-
Olson, T.M.1
Illenberger, S.2
Kishimoto, N.Y.3
Huttelmaier, S.4
Keating, M.T.5
Jockusch, B.M.6
-
139
-
-
0033035808
-
Absence of integrin alpha1beta1 in the mouse causes loss of feedback regulation of collagen synthesis in normal and wounded dermis
-
Gardner H, Broberg A, Pozzi A, Laato M, Heino J. Absence of integrin alpha1beta1 in the mouse causes loss of feedback regulation of collagen synthesis in normal and wounded dermis. J Cell Sci 1999;112:263-272. (Pubitemid 29080649)
-
(1999)
Journal of Cell Science
, vol.112
, Issue.3
, pp. 263-272
-
-
Gardner, H.1
Broberg, A.2
Pozzi, A.3
Laato, M.4
Heino, J.5
-
140
-
-
0036314793
-
2 integrin subunit-deficient mouse: A multifaceted phenotype including defects of branching morphogenesis and hemostasis
-
Chen J, Diacovo TG, Grenache DG, Santoro SA, Zutter MM. The alpha(2) integrin subunit-deficient mouse: a multifaceted phenotype including defects of branching morphogenesis and hemostasis. Am J Pathol 2002;161:337-344. (Pubitemid 34760799)
-
(2002)
American Journal of Pathology
, vol.161
, Issue.1
, pp. 337-344
-
-
Chen, J.1
Diacovo, T.G.2
Grenache, D.G.3
Santoro, S.A.4
Zutter, M.M.5
-
141
-
-
0026356066
-
The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel
-
Newman PJ, Seligsohn U, Lyman S, Coller BS. The molecular genetic basis of glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc Natl Acad Sci USA 1991;88:3160-3164. (Pubitemid 21916579)
-
(1991)
Proceedings of the National Academy of Sciences of the United States of America
, vol.88
, Issue.8
, pp. 3160-3164
-
-
Newman, P.J.1
Seligsohn, U.2
Lyman, S.3
Coller, B.S.4
-
142
-
-
0026035227
-
A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia
-
Burk CD, Newman PJ, Lyman S, Gill J, Coller BS, Poncz M. A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. J Clin Invest 1991;87:270-276.
-
(1991)
J Clin Invest
, vol.87
, pp. 270-276
-
-
Burk, C.D.1
Newman, P.J.2
Lyman, S.3
Gill, J.4
Coller, B.S.5
Poncz, M.6
-
143
-
-
0026711020
-
Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: A proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex
-
Kato A, Yamamoto K, Miyazaki S, Jung SM, Moroi M, Aoki N. Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: A proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex. Blood 1992;79:3212-3218.
-
(1992)
Blood
, vol.79
, pp. 3212-3218
-
-
Kato, A.1
Yamamoto, K.2
Miyazaki, S.3
Jung, S.M.4
Moroi, M.5
Aoki, N.6
-
144
-
-
0023664558
-
Structure of the platelet membrane glycoprotein IIb. Homology to the alpha subunits of the vitronectin and fibronectin membrane receptors
-
Poncz M, Eisman R, Heidenreich R, Silver SM, Vilaire G, Surrey S, Schwartz E, Bennett JS. Structure of the platelet membrane glycoprotein IIb. Homology to the alpha subunits of the vitronectin and fibronectin membrane receptors. J Biol Chem 1987;262:8476-8482.
-
(1987)
J Biol Chem
, vol.262
, pp. 8476-8482
-
-
Poncz, M.1
Eisman, R.2
Heidenreich, R.3
Silver, S.M.4
Vilaire, G.5
Surrey, S.6
Schwartz, E.7
Bennett, J.S.8
-
145
-
-
0029154482
-
The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: Identification of a new mutation on the alpha IIb gene
-
Schlegel N, Gayet O, Morel-Kopp MC, Wyler B, Hurtaud-Roux MF, Kaplan C, Mc Gregor J. The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene. Blood 1995;86:977-982.
-
(1995)
Blood
, vol.86
, pp. 977-982
-
-
Schlegel, N.1
Gayet, O.2
Morel-Kopp, M.C.3
Wyler, B.4
Hurtaud-Roux, M.F.5
Kaplan, C.6
Mc Gregor, J.7
-
146
-
-
0028951764
-
Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association
-
Wilcox DA, Paddock CM, Lyman S, Gill JC, Newman PJ. Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association. J Clin Invest 1995;95:1553-1560.
-
(1995)
J Clin Invest
, vol.95
, pp. 1553-1560
-
-
Wilcox, D.A.1
Paddock, C.M.2
Lyman, S.3
Gill, J.C.4
Newman, P.J.5
-
147
-
-
0029947855
-
3
-
Basani RB, Vilaire G, Shattil SJ, Kolodziej MA, Bennett JS, Poncz M. Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: Demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3. Blood 1996;88:167-173. (Pubitemid 26230684)
-
(1996)
Blood
, vol.88
, Issue.1
, pp. 167-173
-
-
Basani, R.B.1
Vilaire, G.2
Shattil, S.J.3
Kolodziej, M.A.4
Bennett, J.S.5
Poncz, M.6
-
148
-
-
0031657983
-
Double heterozygosity of the GPIIB gene in a Swiss patient with Glanzmann's thrombasthenia
-
DOI 10.1046/j.1365-2141.1998.00852.x
-
Ruan J, Peyruchaud O, Alberio L, Valles G, Clemetson K, Bourre F, Nurden AT. Double heterozygosity of the GPIIb gene in a swiss patient with Glanzmann's thrombasthenia. Br J Haematol 1998;102:918-925. (Pubitemid 28410521)
-
(1998)
British Journal of Haematology
, vol.102
, Issue.4
, pp. 918-925
-
-
Ruan, J.1
Peyruchaud, O.2
Alberto, L.3
Valles, G.4
Clemetson, K.5
Bourre, F.6
Nurden, A.T.7
-
149
-
-
0032032356
-
Glycoprotein IIb Leu214Pro mutation produces Glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa
-
Grimaldi CM, Chen F, Wu C, Weiss HJ, Coller BS, French DL. Glycoprotein IIb Leu214Pro mutation produces Glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa. Blood 1998;91:1562-1571. (Pubitemid 28110320)
-
(1998)
Blood
, vol.91
, Issue.5
, pp. 1562-1571
-
-
Grimaldi, C.M.1
Chen, F.2
Wu, C.3
Weiss, H.J.4
Coller, B.S.5
French, D.L.6
-
150
-
-
0034663430
-
Thrombasthenic mice generated by replacement of the integrin alpha(IIb) gene: Demonstration that transcriptional activation of this megakaryocytic locus precedes lineage commitment
-
Tronik-Le Roux D, Roullot V, Poujol C, Kortulewski T, Nurden P, Marguerie G. Thrombasthenic mice generated by replacement of the integrin alpha(IIb) gene: demonstration that transcriptional activation of this megakaryocytic locus precedes lineage commitment. Blood 2000;96:1399-1408. (Pubitemid 30658470)
-
(2000)
Blood
, vol.96
, Issue.4
, pp. 1399-1408
-
-
Tronik-Le, R.D.1
Roullot, V.2
Poujol, C.3
Kortulewski, T.4
Nurden, P.5
Marguerie, G.6
-
151
-
-
0030604540
-
Differential requirements for alpha4 integrins during fetal and adult hematopoiesis
-
DOI 10.1016/S0092-8674(00)81301-X
-
Arroyo AG, Yang JT, Rayburn H, Hynes RO. Differential requirements for alpha4 integrins during fetal and adult hematopoiesis. Cell 1996;85:997-1008. (Pubitemid 26231167)
-
(1996)
Cell
, vol.85
, Issue.7
, pp. 997-1008
-
-
Arroyo, A.G.1
Yang, J.T.2
Rayburn, H.3
Hynes, R.O.4
-
152
-
-
0027371908
-
5 integrin-deficient mice
-
Yang JT, Rayburn H, Hynes RO. Embryonic mesodermal defects in alpha 5 integrin-deficient mice. Development 1993;119:1093-1105. (Pubitemid 23358579)
-
(1993)
Development
, vol.119
, Issue.4
, pp. 1093-1105
-
-
Yang, J.T.1
Rayburn, H.2
Hynes, R.O.3
-
153
-
-
0030912738
-
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia
-
Ruzzi L, Gagnoux-Palacios L, Pinola M, Belli S, Meneguzzi G, D'Alessio M, Zambruno G. A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest 1997;99:2826-2831. (Pubitemid 27278656)
-
(1997)
Journal of Clinical Investigation
, vol.99
, Issue.12
, pp. 2826-2831
-
-
Ruzzi, L.1
Gagnoux-Palacios, L.2
Pinola, M.3
Belli, S.4
Meneguzzi, G.5
D'Alessio, M.6
Zambruno, G.7
-
154
-
-
0029908558
-
Absence of integrin alpha6 leads to epidermolysis bullosa and neonatal death in mice
-
DOI 10.1038/ng0796-370
-
Georges-Labouesse E, Messaddeq N, Yehia G, Cadalbert L, Dierich A, Le Meur M. Absence of integrin alpha 6 leads to epidermolysis bullosa and neonatal death in mice. Nat Genet 1996;13:370-373. (Pubitemid 26230508)
-
(1996)
Nature Genetics
, vol.13
, Issue.3
, pp. 370-373
-
-
Georges-Labouesse, E.1
Messaddeq, N.2
Yehia, G.3
Cadalbert, L.4
Dierich, A.5
Le, M.M.6
-
155
-
-
17344372250
-
Mutations in the integrin alpha7 gene cause congenital myopathy
-
DOI 10.1038/ng0598-94
-
Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, et al. Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet 1998;19:94-97. (Pubitemid 28242033)
-
(1998)
Nature Genetics
, vol.19
, Issue.1
, pp. 94-97
-
-
Hayashi, Y.K.1
Chou, F.-L.2
Engvall, E.3
Ogawa, M.4
Matsuda, C.5
Hirabayashi, S.6
Yokochi, K.7
Ziober, B.L.8
Kramer, R.H.9
Kaufman, S.J.10
Ozawa, E.11
Goto, Y.-I.12
Nonaka, I.13
Tsukahara, T.14
Wang, J.-Z.15
Hoffman, E.P.16
Arahata, K.17
-
156
-
-
0030614865
-
Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis
-
DOI 10.1016/S0092-8674(00)81903-0
-
Müller U, Wang D, Denda S, Meneses JJ, Pedersen RA, Reichardt LF. Integrin alpha8beta1 is critically important for epithelial-mesenchymal interactions during kidney morphogenesis. Cell 1997;88:603-613. (Pubitemid 27152403)
-
(1997)
Cell
, vol.88
, Issue.5
, pp. 603-613
-
-
Muller, U.1
Wang, D.2
Denda, S.3
Meneses, J.J.4
Pedersen, R.A.5
Reichardt, L.F.6
-
157
-
-
17044396261
-
Loss of alpha10beta1 integrin expression leads to moderate dysfunction of growth plate chondrocytes
-
Bengtsson T, Aszodi A, Nicolae C, Hunziker EB, Lundgren-Akerlund E, Fässler R. Loss of alpha10beta1 integrin expression leads to moderate dysfunction of growth plate chondrocytes. J Cell Sci 2005;118:929-936.
-
(2005)
J Cell Sci
, vol.118
, pp. 929-936
-
-
Bengtsson, T.1
Aszodi, A.2
Nicolae, C.3
Hunziker, E.B.4
Lundgren-Akerlund, E.5
Fässler, R.6
-
158
-
-
34250180546
-
Alpha11beta1 integrin-dependent regulation of periodontal ligament function in the erupting mouse incisor
-
DOI 10.1128/MCB.00041-07
-
Popova SN, Barczyk M, Tiger CF, Beertsen W, Zigrino P, Aszodi A, Miosge N, Forsberg E, Gullberg D. Alpha11 beta1 integrin-dependent regulation of periodontal ligament function in the erupting mouse incisor. Mol Cell Biol 2007;27:4306-4316. (Pubitemid 46906555)
-
(2007)
Molecular and Cellular Biology
, vol.27
, Issue.12
, pp. 4306-4316
-
-
Popova, S.N.1
Barczyk, M.2
Tiger, C.-F.3
Beertsen, W.4
Zigrino, P.5
Aszodi, A.6
Miosge, N.7
Forsberg, E.8
Gullberg, D.9
-
159
-
-
40449129551
-
Integrin alphaDbeta2 is dynamically expressed by inflamed macrophages and alters the natural history of lethal systemic infections
-
Miyazaki Y, Bunting M, Stafforini DM, Harris ES, McIntyre TM, Prescott SM, Frutuoso VS, Amendoeira FC, de Oliveira Nascimento D, Vieira-de-Abreu A, et al. Integrin alphaDbeta2 is dynamically expressed by inflamed macrophages and alters the natural history of lethal systemic infections. J Immunol 2008;180:590-600.
-
(2008)
J Immunol
, vol.180
, pp. 590-600
-
-
Miyazaki, Y.1
Bunting, M.2
Stafforini, D.M.3
Harris, E.S.4
McIntyre, T.M.5
Prescott, S.M.6
Frutuoso, V.S.7
Amendoeira, F.C.8
De Oliveira Nascimento, D.9
Vieira-de-Abreu, A.10
-
160
-
-
0033151953
-
Mucosal T lymphocyte numbers are selectively reduced in integrin alpha(E) (CD103)-deficient mice
-
Schön MP, Arya A, Murphy EA, Adams CM, Strauch UG, Agace WW, Marsal J, Donohue JP, Her H, Beier DR, et al. Mucosal T lymphocyte numbers are selectively reduced in integrin alpha E (CD103)-deficient mice. J Immunol 1999;162:6641-6649. (Pubitemid 29309388)
-
(1999)
Journal of Immunology
, vol.162
, Issue.11
, pp. 6641-6649
-
-
Schon, M.P.1
Arya, A.2
Murphy, E.A.3
Adams, C.M.4
Strauch, U.G.5
Agace, W.W.6
Marsal, J.7
Donohue, J.P.8
Her, H.9
Beier, D.R.10
Olson, S.11
Lefrancois, L.12
Brenner, M.B.13
Grusby, M.J.14
Parker, C.M.15
-
161
-
-
0032514841
-
Extensive vasculogenesis, angiogenesis, and organogenesis precede lethality in mice lacking all alphav integrins
-
Bader BL, Rayburn H, Crowley D, Hynes RO. Extensive vasculogenesis, angiogenesis, and organogenesis precede lethality in mice lacking all alpha V integrins. Cell 1998;95:507-519. (Pubitemid 28533307)
-
(1998)
Cell
, vol.95
, Issue.4
, pp. 507-519
-
-
Bader, B.L.1
Rayburn, H.2
Crowley, D.3
Hynes, R.O.4
-
162
-
-
0028979153
-
Deletion of beta 1 integrins in mice results in inner cell mass failure and peri-implantation lethality
-
Stephens LE, Sutherland AE, Klimanskaya IV, Andrieux A, Meneses J, Pedersen RA, Damsky CH. Deletion of beta 1 integrins in mice results in inner cell mass failure and peri-implantation lethality. Genes Dev 1995;9:1883-1895.
-
(1995)
Genes Dev
, vol.9
, pp. 1883-1895
-
-
Stephens, L.E.1
Sutherland, A.E.2
Klimanskaya, I.V.3
Andrieux, A.4
Meneses, J.5
Pedersen, R.A.6
Damsky, C.H.7
-
163
-
-
0026504546
-
An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency
-
Sligh JE Jr, Hurwitz MY, Zhu CM, Anderson DC, Beaudet AL. An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency. J Biol Chem 1992;267:714-718.
-
(1992)
J Biol Chem
, vol.267
, pp. 714-718
-
-
Sligh Jr., J.E.1
Hurwitz, M.Y.2
Zhu, C.M.3
Anderson, D.C.4
Beaudet, A.L.5
-
164
-
-
0027257221
-
Gene targeting yields a CD18-mutant mouse for study of inflammation
-
Wilson RW, Ballantyne CM, Smith CW, Montgomery C, Bradley A, O'Brien WE, Beaudet AL. Gene targeting yields a CD18-mutant mouse for study of inflammation. J Immunol 1993;151:1571-1578. (Pubitemid 23219295)
-
(1993)
Journal of Immunology
, vol.151
, Issue.3
, pp. 1571-1578
-
-
Wilson, R.W.1
Ballantyne, C.M.2
Smith, C.W.3
Montgomery, C.4
Bradley, A.5
O'Brien, W.E.6
Beaudet, A.L.7
-
165
-
-
0026761286
-
A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site
-
Bajt ML, Ginsberg MH, Frelinger AL, Berndt MC, Loftus JC. A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site. J Biol Chem 1992;267:3789-3794.
-
(1992)
J Biol Chem
, vol.267
, pp. 3789-3794
-
-
Bajt, M.L.1
Ginsberg, M.H.2
Frelinger, A.L.3
Berndt, M.C.4
Loftus, J.C.5
-
166
-
-
0025062149
-
A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation
-
Loftus JC, O'Toole TE, Plow EF, Glass A, Frelinger AL III, Ginsberg MH. A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation. Science 1990;249:915-918.
-
(1990)
Science
, vol.249
, pp. 915-918
-
-
Loftus, J.C.1
O'Toole, T.E.2
Plow, E.F.3
Glass, A.4
Frelinger III, A.L.5
Ginsberg, M.H.6
-
167
-
-
0026720994
-
A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214arg-214trp mutation
-
Lanza F, Stierlé A, Fournier D, Morales M, André G, Nurden AT, Cazenave JP. A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214arg-214trp mutation. J Clin Invest 1992;89:1995-2004.
-
(1992)
J Clin Invest
, vol.89
, pp. 1995-2004
-
-
Lanza, F.1
Stierlé, A.2
Fournier, D.3
Morales, M.4
André, G.5
Nurden, A.T.6
Cazenave, J.P.7
-
168
-
-
0026614923
-
Ser-752→pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia
-
Chen YP, Djaffar I, Pidard D, Steiner B, Cieutat AM, Caen JP, Rosa JP. Ser-752→pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. Proc Natl Acad Sci USA 1992;89:10169-10173.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 10169-10173
-
-
Chen, Y.P.1
Djaffar, I.2
Pidard, D.3
Steiner, B.4
Cieutat, A.M.5
Caen, J.P.6
Rosa, J.P.7
-
169
-
-
0027499394
-
Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA
-
Simsek S, Heyboer H, de Bruijne-Admiraal LG, Goldschmeding R, Cuijpers HT, von dem Borne AE. Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA. Blood 1993;81:2044-2049. (Pubitemid 23106718)
-
(1993)
Blood
, vol.81
, Issue.8
, pp. 2044-2049
-
-
Simsek, S.1
Heyboer, H.2
De Bruijne-Admiraal, L.G.3
Goldschmeding, R.4
Cuijpers, H.T.M.5
Von Dem, B.A.E.G.K.6
-
170
-
-
0030915793
-
Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta;3) is a second mutation in Iraqi Jews that stemmed from a distinct founder
-
Rosenberg N, Yatuv R, Orion Y, Zivelin A, Dardik R, Peretz H, Seligsohn U. Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta3) is a second mutation in Iraqi jews that stemmed from a distinct founder. Blood 1997;89:3654-3662. (Pubitemid 27227088)
-
(1997)
Blood
, vol.89
, Issue.10
, pp. 3654-3662
-
-
Rosenberg, N.1
Yatuv, R.2
Orion, Y.3
Zivelin, A.4
Dardik, R.5
Peretz, H.6
Seligsohn, U.7
-
171
-
-
0030664425
-
3 complex
-
Wang R, Shattil SJ, Ambruso DR, Newman PJ. Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)-beta3 complex. J Clin Invest 1997;100:2393-2403. (Pubitemid 27500165)
-
(1997)
Journal of Clinical Investigation
, vol.100
, Issue.9
, pp. 2393-2403
-
-
Wang, R.1
Shattil, S.J.2
Ambruso, D.R.3
Newman, P.J.4
-
172
-
-
0032534999
-
Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIB: Novel mutation in exon 11 of GPIIIa associated with thrombasthenia
-
Ferrer M, Tao J, Iruín G, Sánchez-Ayuso M, González-Rodríguez J, Parrilla R, González-Manchón C. Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb: Novel mutation in exon 11 of GPIIIa associated with thrombasthenia. Blood 1998;92:4712-4720. (Pubitemid 29005873)
-
(1998)
Blood
, vol.92
, Issue.12
, pp. 4712-4720
-
-
Ferrer, M.1
Tao, J.2
Iruin, G.3
Sanchez-Ayuso, M.4
Gonzajez-Rodriguez, J.5
Parrilla, R.6
Gonzalez-Manchon, C.7
-
173
-
-
33645786359
-
Molecular diversity of Glanzmann thrombasthenia in southern India: New insights into mRNA splicing and structure-function correlations of alphaIIb-beta3 integrin (ITGA2B, ITGB3)
-
Peretz H, Rosenberg N, Landau M, Usher S, Nelson EJ, Mor-Cohen R, French DL, Mitchell BW, Nair SC, Chandy M, et al. Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIb-beta3 integrin (ITGA2B, ITGB3). Hum Mutat 2006;27:359-369.
-
(2006)
Hum Mutat
, vol.27
, pp. 359-369
-
-
Peretz, H.1
Rosenberg, N.2
Landau, M.3
Usher, S.4
Nelson, E.J.5
Mor-Cohen, R.6
French, D.L.7
Mitchell, B.W.8
Nair, S.C.9
Chandy, M.10
-
174
-
-
0032590042
-
Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival
-
Hodivala-Dilke KM, McHugh KP, Tsakiris DA, Rayburn H, Crowley D, Ullman-Cullere M, Ross FP, Coller BS, Teitelbaum S, Hynes RO. Beta3-integrin-deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival. J Clin Invest 1999;103:229-238. (Pubitemid 29053141)
-
(1999)
Journal of Clinical Investigation
, vol.103
, Issue.2
, pp. 229-238
-
-
Hodivala-Dilke, K.M.1
McHugh, K.P.2
Tsakiris, D.A.3
Rayburn, H.4
Crowley, D.5
Ullman-Cullere, M.6
Ross, F.P.7
Coller, B.S.8
Teitelbaum, S.9
Hynes, R.O.10
-
175
-
-
0028989243
-
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
-
Vidal F, Aberdam D, Miquel C, Christiano AM, Pulkkinen L, Uitto J, Ortonne JP, Meneguzzi G. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 1995;10:229-234.
-
(1995)
Nat Genet
, vol.10
, pp. 229-234
-
-
Vidal, F.1
Aberdam, D.2
Miquel, C.3
Christiano, A.M.4
Pulkkinen, L.5
Uitto, J.6
Ortonne, J.P.7
Meneguzzi, G.8
-
176
-
-
0032231297
-
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: Missense versus nonsense
-
DOI 10.1086/302116
-
Pulkkinen L, Rouan F, Bruckner-Tuderman L, Wallerstein R, Garzon M, Brown T, Smith L, Carter W, Uitto J. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Am J Hum Genet 1998;63:1376-1387. (Pubitemid 30418534)
-
(1998)
American Journal of Human Genetics
, vol.63
, Issue.5
, pp. 1376-1387
-
-
Pulkkinen, L.1
Rouan, F.2
Bruckner-Tuderman, L.3
Wallerstein, R.4
Garzon, M.5
Brown, T.6
Smith, L.7
Carter, W.8
Uitto, J.9
-
177
-
-
7844246149
-
Pyloric atresia-junctional epidermolysis bullosa syndrome: Mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease
-
DOI 10.1046/j.1365-2133.1998.02515.x
-
Mellerio JE, Pulkkinen L, McMillan JR, Lake BD, Horn HM, Tidman MJ, Harper JI, McGrath JA, Uitto J, Eady RA. Pyloric atresiajunctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. Br J Dermatol 1998;139:862-871. (Pubitemid 28520297)
-
(1998)
British Journal of Dermatology
, vol.139
, Issue.5
, pp. 862-871
-
-
Mellerio, J.E.1
Pulkkinen, L.2
McMillan, J.R.3
Lake, B.D.4
Horn, H.M.5
Tidman, M.J.6
Harper, J.I.7
McGrath, J.A.8
Uitto, J.9
Eady, R.A.J.10
-
178
-
-
0032875192
-
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing
-
DOI 10.1093/hmg/8.11.2097
-
Chavanas S, Gache Y, Vailly J, Kanitakis J, Pulkkinen L, Uitto J, Ortonne J, Meneguzzi G. Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. Hum Mol Genet 1999;8:2097-2105. (Pubitemid 29458738)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.11
, pp. 2097-2105
-
-
Chavanas, S.1
Gache, Y.2
Vailly, J.3
Kanitakis, J.4
Pulkkinen, L.5
Uitto, J.6
Ortonne, J.-P.7
Meneguzzi, G.8
-
179
-
-
0034068641
-
A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia? [3]
-
DOI 10.1046/j.1523-1747.2000.00960-3.x
-
Inoue M, Tamai K, Shimizu H, Owaribe K, Nakama T, Hashimoto T, McGrath JA. A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931d, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia? J Invest Dermatol 2000;114:1061-1064. (Pubitemid 30252734)
-
(2000)
Journal of Investigative Dermatology
, vol.114
, Issue.5
, pp. 1061-1064
-
-
Inoue, M.1
Tamai, K.2
Shimizu, H.3
Owaribe, K.4
Nakama, T.5
Hashimoto, T.6
McGrath, J.A.7
-
180
-
-
0036911668
-
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex
-
DOI 10.1046/j.1523-1747.2002.19609.x
-
Jonkman MF, Pas HH, Nijenhuis M, Kloosterhuis G, Steege G. Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. J Invest Dermatol 2002;119:1275-1281. (Pubitemid 36005609)
-
(2002)
Journal of Investigative Dermatology
, vol.119
, Issue.6
, pp. 1275-1281
-
-
Jonkman, M.F.1
Pas, H.H.2
Nijenhuis, M.3
Kloosterhuis, G.4
Van Der, S.G.5
-
181
-
-
0035034497
-
Epidermolysis bullosa with congenital pyloric atresia: Novel mutations in the beta4 integrin gene (ITGB4) and genotype/phenotype correlations
-
Nakano A, Pulkkinen L, Murrell D, Rico J, Lucky AW, Garzon M, Stevens CA, Robertson S, Pfendner E, Uitto J. Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatr Res 2001;49:618-626. (Pubitemid 32390849)
-
(2001)
Pediatric Research
, vol.49
, Issue.5
, pp. 618-626
-
-
Nakano, A.1
Pulkkinen, L.2
Murrell, D.3
Rico, J.4
Lucky, A.W.5
Garzon, M.6
Stevens, C.A.7
Robertson, S.8
Pfendner, E.9
Uitto, J.10
-
182
-
-
42949147509
-
Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original carmi syndrome patients
-
Birnbaum RY, Landau D, Elbedour K, Ofir R, Birk OS, Carmi R. Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original carmi syndrome patients. Am J Med Genet A 2008;146A:1063-1066.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1063-1066
-
-
Birnbaum, R.Y.1
Landau, D.2
Elbedour, K.3
Ofir, R.4
Birk, O.S.5
Carmi, R.6
-
183
-
-
0030015434
-
Epithelial detachment due to absence of hemidesmosomes in integrin beta 4 null mice
-
van der Neut R, Krimpenfort P, Calafat J, Niessen CM, Sonnenberg A. Epithelial detachment due to absence of hemidesmosomes in integrin beta 4 null mice. Nat Genet 1996;13:366-369.
-
(1996)
Nat Genet
, vol.13
, pp. 366-369
-
-
Van Der Neut, R.1
Krimpenfort, P.2
Calafat, J.3
Niessen, C.M.4
Sonnenberg, A.5
-
184
-
-
0033982574
-
Normal development, wound healing, and adenovirus susceptibility in beta5- deficient mice
-
DOI 10.1128/MCB.20.3.755-759.2000
-
Huang X, Griffiths M, Wu J, Farese RV, Sheppard D. Normal development, wound healing, and adenovirus susceptibility in beta5-deficient mice. Mol Cell Biol 2000;20:755-759. (Pubitemid 30044211)
-
(2000)
Molecular and Cellular Biology
, vol.20
, Issue.3
, pp. 755-759
-
-
Huang, X.1
Griffiths, M.2
Wu, J.3
Farese Jr., R.V.4
Sheppard, D.5
-
185
-
-
0035984003
-
Beta8 Integrins are required for vascular morphogenesis in mouse embryos
-
Zhu J, Motejlek K, Wang D, Zang K, Schmidt A, Reichardt LF. Beta8 integrins are required for vascular morphogenesis in mouse embryos. Development 2002;129:2891-2903. (Pubitemid 34874268)
-
(2002)
Development
, vol.129
, Issue.12
, pp. 2891-2903
-
-
Zhu, J.1
Motejlek, K.2
Wang, D.3
Zang, K.4
Schmidt, A.5
Reichardt, L.F.6
-
187
-
-
0030696315
-
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: Implications for genetic studies in isolated populations
-
DOI 10.1093/hmg/6.12.2163
-
Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A. Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 1997;6:2163-2172. (Pubitemid 27477960)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.12
, pp. 2163-2172
-
-
Carrasquillo, M.M.1
Zlotogora, J.2
Barges, S.3
Chakravarti, A.4
-
188
-
-
0032575085
-
Connexin 26 gene linked to a dominant deafness [9]
-
DOI 10.1038/30639
-
Denoyelle F, Lina-Granade G, Plauchu H, Bruzzone R, Chaïb H, Lévi-Acobas F, Weil D, Petit C. Connexin 26 gene linked to a dominant deafness. Nature 1998;393:319-320. (Pubitemid 28269696)
-
(1998)
Nature
, vol.393
, Issue.6683
, pp. 319-320
-
-
Denoyelle, F.1
Lina-Granade, G.2
Plauchu, H.3
Bruzzone, R.4
Chaib, H.5
Levi-, A.F.6
Weil, D.7
Petit, C.8
-
189
-
-
0032546033
-
Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa [4]
-
DOI 10.1056/NEJM199802193380812
-
Brobby GW, Muller-Myhsok B, Horstmann RD. Connexin 26 r143w mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Med 1998;338:548-550. (Pubitemid 28103143)
-
(1998)
New England Journal of Medicine
, vol.338
, Issue.8
, pp. 548-550
-
-
Brobby, G.W.1
Muller-Myhsok, B.2
Horstmann, R.D.3
-
190
-
-
3643059295
-
Mutations in the connexin 26 gene (GJB2) among Ashkenazi jews with nonsyndromic recessive deafness
-
DOI 10.1056/NEJM199811193392103
-
Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R, Van Camp G, Berlin CI, Oddoux C, Ostrer H, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500-1505. (Pubitemid 28543498)
-
(1998)
New England Journal of Medicine
, vol.339
, Issue.21
, pp. 1500-1505
-
-
Morell, R.J.1
Kim, H.J.2
Hood, L.J.3
Goforth, L.4
Friderici, K.5
Fisher, R.6
Van Camp, G.7
Berlin, C.I.8
Oddoux, C.9
Ostrer, H.10
Keats, B.11
Friedman, T.B.12
San, A.T.13
Dumon, J.14
-
191
-
-
18344395853
-
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome
-
DOI 10.1086/339986
-
Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis- deafness syndrome. Am J Hum Genet 2002;70:1341-1348. (Pubitemid 34450584)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.5
, pp. 1341-1348
-
-
Richard, G.1
Rouan, F.2
Willoughby, C.E.3
Brown, N.4
Chung, P.5
Ryynanen, M.6
Jabs, E.W.7
Bale, S.J.8
DiGiovanna, J.J.9
Uitto, J.10
Russell, L.11
-
192
-
-
6344225698
-
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2
-
DOI 10.1111/j.0022-202X.2004.23470.x
-
Richard G, Brown N, Ishida-Yamamoto A, Krol A. Expanding the phenotypic spectrum of CX26 disorders: Bart-pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol 2004;123:856-863. (Pubitemid 39391929)
-
(2004)
Journal of Investigative Dermatology
, vol.123
, Issue.5
, pp. 856-863
-
-
Richard, G.1
Brown, N.2
Ishida-Yamamoto, A.3
Krol, A.4
-
193
-
-
0034019466
-
The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population
-
DOI 10.1007/s004390051009
-
Sobe T, Vreugde S, Shahin H, Berlin M, Davis N, Kanaan M, Yaron Y, Orr-Urtreger A, Frydman M, Shohat M, et al. The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population. Hum Genet 2000;106:50-57. (Pubitemid 30156394)
-
(2000)
Human Genetics
, vol.106
, Issue.1
, pp. 50-57
-
-
Sobe, T.1
Vreugde, S.2
Shahin, H.3
Berlin, M.4
Davis, N.5
Kanaan, M.6
Yaron, Y.7
Orr-Urtreger, A.8
Frydman, M.9
Shohat, M.10
Avraham, K.B.11
-
194
-
-
0035500580
-
Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A→G mitochondrial mutation
-
DOI 10.1002/1096-8628(20011101)103:4<334::AID-AJMG1574>3.0.CO;2-F
-
Abe S, Kelley PM, Kimberling WJ, Usami SI. Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A→G mitochondrial mutation. Am J Med Genet 2001;103:334-338. (Pubitemid 32988601)
-
(2001)
American Journal of Medical Genetics
, vol.103
, Issue.4
, pp. 334-338
-
-
Abe, S.1
Kelley, P.M.2
Kimberling, W.J.3
Usami, S.-I.4
-
195
-
-
0034099846
-
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
-
Heathcote K, Syrris P, Carter ND, Patton MA. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). J Med Genet 2000;37:50-51. (Pubitemid 30245875)
-
(2000)
Journal of Medical Genetics
, vol.37
, Issue.1
, pp. 50-51
-
-
Heathcote, K.1
Syrris, P.2
Carter, N.D.3
Patton, M.A.4
-
196
-
-
0035081564
-
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria
-
DOI 10.1038/sj.ejhg.5200607
-
Löffler J, Nekahm D, Hirst-Stadlmann A, Günther B, Menzel HJ, Utermann G, Janecke AR. Sensorineural hearing loss and the incidence of CX26 mutations in Austria. Eur J Hum Genet 2001;9:226-230. (Pubitemid 32237057)
-
(2001)
European Journal of Human Genetics
, vol.9
, Issue.3
, pp. 226-230
-
-
Loffler, J.1
Nekahm, D.2
Hirst-Stadlmann, A.3
Gunther, B.4
Menzel, H.-J.5
Utermann, G.6
Janecke, A.R.7
-
197
-
-
0034075770
-
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss
-
Morlé L, Bozon M, Alloisio N, Latour P, Vandenberghe A, Plauchu H, Collet L, Edery P, Godet J, Lina-Granade G. A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss. J Med Genet 2000;37:368-370. (Pubitemid 30261269)
-
(2000)
Journal of Medical Genetics
, vol.37
, Issue.5
, pp. 368-370
-
-
Morle, L.1
Bozon, M.2
Alloisio, N.3
Latour, P.4
Vandenberghe, A.5
Plauchu, H.6
Collet, L.7
Edery, P.8
Godet, J.9
Lina-Granade, G.10
-
198
-
-
0035047780
-
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness
-
DOI 10.1034/j.1399-0004.2001.590409.x
-
Tekin M, Arnos KS, Xia XJ, Oelrich MK, Liu XZ, Nance WE, Pandya A. W44c mutation in the connexin 26 gene associated with dominant non-syndromic deafness. Clin Genet 2001;59:269-273. (Pubitemid 32318394)
-
(2001)
Clinical Genetics
, vol.59
, Issue.4
, pp. 269-273
-
-
Tekin, M.1
Arnos, K.S.2
Xia, X.J.3
Oelrich, M.K.4
Liu, X.Z.5
Nance, W.E.6
Pandya, A.7
-
199
-
-
12244265494
-
Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss
-
DOI 10.1034/j.1399-0004.2002.610611.x
-
Bason L, Dudley T, Lewis K, Shah U, Potsic W, Ferraris A, Fortina P, Rappaport E, Krantz ID. Homozygosity for the V37I connexin 26 mutation in three unrelated children with sensorineural hearing loss. Clin Genet 2002;61:459-464. (Pubitemid 36372685)
-
(2002)
Clinical Genetics
, vol.61
, Issue.6
, pp. 459-464
-
-
Bason, L.1
Dudley, T.2
Lewis, K.3
Shah, U.4
Potsic, W.5
Ferraris, A.6
Fortina, P.7
Rappaport, E.8
Krantz, I.D.9
-
200
-
-
4243238202
-
Exploring the clinical and epidemiological complexity of GJB2-linked deafness
-
Gualandi F, Ravani A, Berto A, Sensi A, Trabanelli C, Falciano F, Trevisi P, Mazzoli M, Tibiletti MG, Cristofari E, et al. Exploring the clinical and epidemiological complexity of GJB2-linked deafness. Am J Med Genet 2002;112:38-45.
-
(2002)
Am J Med Genet
, vol.112
, pp. 38-45
-
-
Gualandi, F.1
Ravani, A.2
Berto, A.3
Sensi, A.4
Trabanelli, C.5
Falciano, F.6
Trevisi, P.7
Mazzoli, M.8
Tibiletti, M.G.9
Cristofari, E.10
-
201
-
-
0242684552
-
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30
-
DOI 10.1093/hmg/ddg076
-
Marziano NK, Casalotti SO, Portelli AE, Becker DL, Forge A. Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. Hum Mol Genet 2003;12:805-812. (Pubitemid 36504023)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.8
, pp. 805-812
-
-
Marziano, N.K.1
Casalotti, S.O.2
Portelli, A.E.3
Becker, D.L.4
Forge, A.5
-
202
-
-
0034856656
-
Connexin 26 studies in patients with sensorineural hearing loss
-
Kenna MA, Wu BL, Cotanche DA, Korf BR, Rehm HL. Connexin 26 studies in patients with sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2001;127:1037-1042. (Pubitemid 32848178)
-
(2001)
Archives of Otolaryngology - Head and Neck Surgery
, vol.127
, Issue.9
, pp. 1037-1042
-
-
Kenna, M.A.1
Wu, B.-L.2
Cotanche, D.A.3
Korf, B.R.4
Rehm, H.L.5
-
203
-
-
14044263546
-
GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form
-
DOI 10.1002/ajmg.a.30515
-
Janecke AR, Hennies HC, Günther B, Gansl G, Smolle J, Messmer EM, Utermann G, Rittinger O. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Am J Med Genet A 2005;133A:128-131. (Pubitemid 40279777)
-
(2005)
American Journal of Medical Genetics
, vol.133 A
, Issue.2
, pp. 128-131
-
-
Janecke, A.R.1
Hennies, H.C.2
Gunther, B.3
Gansl, G.4
Smolle, J.5
Messmer, E.M.6
Utermann, G.7
Rittinger, O.8
-
204
-
-
4344627625
-
Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness
-
DOI 10.1111/j.1399-0004.2004.00283.x
-
Seeman P, Malíková M, Rasková D, Bendová O, Groh D, KubálkováM, Sakmaryová I, Seemanová E, Kabelka Z. Spectrum and frequencies of mutations in the GJB2 (CX26) gene among 156 Czech patients with pre-lingual deafness. Clin Genet 2004;66:152-157. (Pubitemid 39117523)
-
(2004)
Clinical Genetics
, vol.66
, Issue.2
, pp. 152-157
-
-
Seeman, P.1
Malikova, M.2
Raskova, D.3
Bendova, O.4
Groh, D.5
Kubalkova, M.6
Sakmaryova, I.7
Seemanova, E.8
Kabelka, Z.9
-
205
-
-
22044444273
-
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome [2]
-
DOI 10.1002/ajmg.a.30822
-
Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE. G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. Am J Med Genet A 2005;136:282-284. (Pubitemid 40967097)
-
(2005)
American Journal of Medical Genetics
, vol.136 A
, Issue.3
, pp. 282-284
-
-
Alexandrino, F.1
Sartorato, E.L.2
Marques-De-Faria, A.P.3
Steiner, C.E.4
-
206
-
-
44649131935
-
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss
-
Matos TD, Caria H, Simo&tild;es-Teixeira H, Aasen T, Dias O, Andrea M, Kelsell DP, Fialho G. A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. Hear Res 2008;240:87-92.
-
(2008)
Hear Res
, vol.240
, pp. 87-92
-
-
Matos, T.D.1
Caria, H.2
Simoes-Teixeira, H.3
Aasen, T.4
Dias, O.5
Andrea, M.6
Kelsell, D.P.7
Fialho, G.8
-
207
-
-
36348942860
-
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter
-
Matos TD, Caria H, Simo&tild;es-Teixeira H, Aasen T, Nickel R, Jagger DJ, O'Neill A, Kelsell DP, Fialho G. A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. J Med Genet 2007;44:721-725.
-
(2007)
J Med Genet
, vol.44
, pp. 721-725
-
-
Matos, T.D.1
Caria, H.2
Simoes-Teixeira, H.3
Aasen, T.4
Nickel, R.5
Jagger, D.J.6
O'Neill, A.7
Kelsell, D.P.8
Fialho, G.9
-
208
-
-
40649114013
-
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplanar keratoderma with deafness
-
DOI 10.1136/jmg.2007.052332
-
de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J Med Genet 2008;45:161-166. (Pubitemid 351373745)
-
(2008)
Journal of Medical Genetics
, vol.45
, Issue.3
, pp. 161-166
-
-
De Zwart-Storm, E.A.1
Hamm, H.2
Stoevesandt, J.3
Steijlen, P.M.4
Martin, P.E.5
Van Geel, M.6
Van Steensel, M.A.M.7
-
209
-
-
0037046804
-
Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death
-
DOI 10.1016/S0960-9822(02)00904-1, PII S0960982202009041
-
Cohen-Salmon M, Ott T, Michel V, Hardelin JP, Perfettini I, Eybalin M, Wu T, Marcus DC, Wangemann P, Willecke K, et al. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol 2002;12:1106-1111. (Pubitemid 34766932)
-
(2002)
Current Biology
, vol.12
, Issue.13
, pp. 1106-1111
-
-
Cohen-Salmon, M.1
Ott, T.2
Michel, V.3
Hardelin, J.-P.4
Perfettini, I.5
Eybalin, M.6
Wu, T.7
Marcus, D.C.8
Wangemann, P.9
Willecke, K.10
Petit, C.11
-
210
-
-
0032846415
-
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus [2]
-
DOI 10.1038/12612
-
Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 1999;23:16-18. (Pubitemid 29418780)
-
(1999)
Nature Genetics
, vol.23
, Issue.1
, pp. 16-18
-
-
Grifa, A.1
A, W.C.2
D'Ambrosio, L.3
Melchionda, S.4
Bernardi, F.5
Lopez-Bigas, N.6
Rabionet, R.7
Arbones, M.8
Della, M.M.9
Estivill, X.10
Zelante, L.11
Lang, F.12
Gasparini, P.13
-
211
-
-
0342572603
-
Mutations in GJB6 cause hidrotic ectodermal dysplasia
-
Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaitre G, Hand C, Hayflick SJ, Zonana J, et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 2000;26:142-144.
-
(2000)
Nat Genet
, vol.26
, pp. 142-144
-
-
Lamartine, J.1
Munhoz Essenfelder, G.2
Kibar, Z.3
Lanneluc, I.4
Callouet, E.5
Laoudj, D.6
Lemaitre, G.7
Hand, C.8
Hayflick, S.J.9
Zonana, J.10
-
213
-
-
0037165262
-
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
-
DOI 10.1056/NEJMoa012052
-
del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Tellería D, Menéndez I, Moreno F. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N Engl J Med 2002;346:243-249. (Pubitemid 34438863)
-
(2002)
New England Journal of Medicine
, vol.346
, Issue.4
, pp. 243-249
-
-
Del, C.I.1
Villamar, M.2
Moreno-Pelayo, M.A.3
Del, C.F.J.4
Alvarez, A.5
Telleria, D.6
Menendez, I.7
Moreno, F.8
-
214
-
-
12244300886
-
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
-
DOI 10.1093/hmg/ddg001
-
Teubner B, Michel V, Pesch J, Lautermann J, Cohen-Salmon M, Söhl G, Jahnke K, Winterhager E, Herberhold C, Hardelin JP, et al. Connexin30 (GJB6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum Mol Genet 2003;12:13-21. (Pubitemid 36097711)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.1
, pp. 13-21
-
-
Teubner, B.1
Michel, V.2
Pesch, J.3
Lautermann, J.4
Cohen-Salmon, M.5
Sohl, G.6
Jahnke, K.7
Winterhager, E.8
Herberhold, C.9
Hardelin, J.-P.10
Petit, C.11
Willecke, K.12
-
215
-
-
0033760288
-
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
-
Macari F, Landau M, Cousin P, Mevorah B, Brenner S, Panizzon R, Schorderet DF, Hohl D, Huber M. Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Am J Hum Genet 2000;67:1296-1301.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1296-1301
-
-
Macari, F.1
Landau, M.2
Cousin, P.3
Mevorah, B.4
Brenner, S.5
Panizzon, R.6
Schorderet, D.F.7
Hohl, D.8
Huber, M.9
-
216
-
-
0037378471
-
Genetic heterogeneity in erythrokeratodermia variabilis: Novel mutations in the connexin gene GJB4 (Cx30.3) and Genotype-phenotype correlations
-
DOI 10.1046/j.1523-1747.2003.12080.x
-
Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, et al. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (cx30.3) and genotypephenotype correlations. J Invest Dermatol 2003;120:601-609. (Pubitemid 36344003)
-
(2003)
Journal of Investigative Dermatology
, vol.120
, Issue.4
, pp. 601-609
-
-
Richard, G.1
Brown, N.2
Rouan, F.3
Van Der, S.J.-G.4
Bijlsma, E.5
Eichenfield, L.F.6
Sybert, V.P.7
Greer, K.E.8
Hogan, P.9
Campanelli, C.10
Compton, J.G.11
Bale, S.J.12
DiGiovanna, J.J.13
Uitto, J.14
-
217
-
-
0034073333
-
The spectrum of mutations in erythrokeratodermias - Novel and de novo mutations in GJB3
-
DOI 10.1007/s004390051045
-
Richard G, Brown N, Smith LE, Terrinoni A, Melino G, Mackie RM, Bale SJ, Uitto J. The spectrum of mutations in erythrokeratodermias-novel and de novo mutations in GJB3. Hum Genet 2000;106:321-329. (Pubitemid 30201281)
-
(2000)
Human Genetics
, vol.106
, Issue.3
, pp. 321-329
-
-
Richard, G.1
Brown, N.2
Smith, L.E.3
Terrinoni, A.4
Melino, G.5
MacKie, R.M.6
Bale, S.J.7
Uitto, J.8
-
218
-
-
36048939746
-
Characterization of connexin30.3-deficient mice suggests a possible role of connexin30.3 in olfaction
-
DOI 10.1016/j.ejcb.2007.01.005, PII S0171933507000982, Keratinocytes
-
Zheng-Fischhöfer Q, Schnichels M, Dere E, Strotmann J, Loscher N, McCulloch F, Kretz M, Degen J, Reucher H, Nagy JI, et al. Characterization of connexin30.3-deficient mice suggests a possible role of connexin30.3 in olfaction. Eur J Cell Biol 2007;86:683-700. (Pubitemid 350082202)
-
(2007)
European Journal of Cell Biology
, vol.86
, Issue.11-12
, pp. 683-700
-
-
Zheng-Fischhofer, Q.1
Schnichels, M.2
Dere, E.3
Strotmann, J.4
Loscher, N.5
McCulloch, F.6
Kretz, M.7
Degen, J.8
Reucher, H.9
Nagy, J.I.10
Peti-Peterdi, J.11
Huston, J.P.12
Breer, H.13
Willecke, K.14
-
219
-
-
17344373747
-
Mutations in the gene encoding gap junction protein associated with autosomal dominant hearing impairment
-
DOI 10.1038/3845
-
Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 1998;20:370-373. (Pubitemid 28541636)
-
(1998)
Nature Genetics
, vol.20
, Issue.4
, pp. 370-373
-
-
Xia, J.-H.1
Liu, C.-Y.2
Tang, B.-S.3
Pan, Q.4
Huang, L.5
Dai, H.-P.6
Zhang, B.-R.7
Xie, W.8
Hu, D.-X.9
Zheng, D.10
Shi, X.-L.11
Wang, D.-A.12
Xia, K.13
Yu, K.-P.14
Liao, X.-D.15
Feng, Y.16
Yang, Y.-F.17
Xiao, J.-Y.18
Xie, D.-H.19
Huang, J.-Z.20
more..
-
220
-
-
0034018259
-
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss
-
Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet 2000;9:63-67. (Pubitemid 30145289)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.1
, pp. 63-67
-
-
Liu, X.-Z.1
Xia, X.J.2
Xu, L.R.3
Pandya, A.4
Liang, C.Y.5
Blanton, S.H.6
Brown, S.D.M.7
Steel, K.P.8
Nance, W.E.9
-
221
-
-
0033384991
-
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis
-
DOI 10.1046/j.1523-1747.1999.00792.x
-
Wilgoss A, Leigh IM, Barnes MR, Dopping-Hepenstal P, Eady RA, Walter JM, Kennedy CT, Kelsell DP. Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. J Invest Dermatol 1999;113:1119-1122. (Pubitemid 30013362)
-
(1999)
Journal of Investigative Dermatology
, vol.113
, Issue.6
, pp. 1119-1122
-
-
Wilgoss, A.1
Leigh, I.M.2
Barnes, M.R.3
Dopping-Hepenstal, P.4
Eady, R.A.J.5
Walter, J.M.6
Kennedy, C.T.C.7
Kelsell, D.P.8
-
222
-
-
0035871208
-
Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
-
Lopez-Bigas N, Olive M, Rabionet R, Ben-David O, Martinez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, et al. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet 2001;10:947-952. (Pubitemid 32401411)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.9
, pp. 947-952
-
-
Lopez-Bigas, N.1
Olive, M.2
Rabionet, R.3
Ben-David, O.4
Martinez-Matos, J.A.5
Bravo, O.6
Banchs, I.7
Volpini, V.8
Gasparini, P.9
Avraham, K.B.10
Ferrer, I.11
Arbones, M.L.12
Estivill, X.13
-
223
-
-
0035869426
-
Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation
-
DOI 10.1006/dbio.2000.0148
-
Plum A, Winterhager E, Pesch J, Lautermann J, Hallas G, Rosentreter B, Traub O, Herberhold C, Willecke K. Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation. Dev Biol 2001;231:334-347. (Pubitemid 32217575)
-
(2001)
Developmental Biology
, vol.231
, Issue.2
, pp. 334-347
-
-
Plum, A.1
Winterhager, E.2
Pesch, J.3
Lautermann, J.4
Hallas, G.5
Rosentreter, B.6
Traub, O.7
Herberhold, C.8
Willecke, K.9
-
224
-
-
36549031783
-
Characterization of Connexin31.1-deficient mice reveals impaired placental development
-
DOI 10.1016/j.ydbio.2007.09.025, PII S0012160607013802
-
Zheng-Fischhöfer Q, Kibschull M, Schnichels M, Kretz M, Petrasch-Parwez E, Strotmann J, Reucher H, Lynn BD, Nagy JI, Lye SJ, et al. Characterization of connexin31.1-deficient mice reveals impaired placental development. Dev Biol 2007;312:258-271. (Pubitemid 350180758)
-
(2007)
Developmental Biology
, vol.312
, Issue.1
, pp. 258-271
-
-
Zheng-Fischhofer, Q.1
Kibschull, M.2
Schnichels, M.3
Kretz, M.4
Petrasch-Parwez, E.5
Strotmann, J.6
Reucher, H.7
Lynn, B.D.8
Nagy, J.I.9
Lye, S.J.10
Winterhager, E.11
Willecke, K.12
-
225
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262:2039-2042. (Pubitemid 24041884)
-
(1993)
Science
, vol.262
, Issue.5142
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
Oronzi, S.M.4
Bone, L.J.5
Paul, D.L.6
Chen, K.7
Lensch, M.W.8
Chance, P.F.9
Fischbeck, K.H.10
-
226
-
-
0029431669
-
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease
-
Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, et al. New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology 1995;45:1863-1866. (Pubitemid 27122959)
-
(1995)
Neurology
, vol.45
, Issue.10
, pp. 1863-1866
-
-
Bone, L.J.1
Dahl, N.2
Lensch, M.W.3
Chance, P.F.4
Kelly, T.5
Le, G.E.6
Magi, S.7
Parry, G.8
Shapiro, H.9
Wang, S.10
Fischbeck, K.H.11
-
227
-
-
0028014579
-
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
-
Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Mol Genet 1994;3:29-34.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 29-34
-
-
Fairweather, N.1
Bell, C.2
Cochrane, S.3
Chelly, J.4
Wang, S.5
Mostacciuolo, M.L.6
Monaco, A.P.7
Haites, N.E.8
-
228
-
-
0032961829
-
Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene
-
Bähr M, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. J Neurol Neurosurg Psychiatry 1999;66:202-206. (Pubitemid 29103522)
-
(1999)
Journal of Neurology Neurosurgery and Psychiatry
, vol.66
, Issue.2
, pp. 202-206
-
-
Bahr, M.1
Andres, F.2
Timmerman, V.3
Nelis, M.E.4
Van Broeckhoven, C.5
Dichgans, J.6
-
229
-
-
0032866609
-
Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings
-
DOI 10.1002/(SICI)1097-4598(199910)22:10<1442::AID-MUS16>3.0.CO;2-6
-
Tabaraud F, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM. Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. Muscle Nerve 1999;22:1442-1447. (Pubitemid 29468431)
-
(1999)
Muscle and Nerve
, vol.22
, Issue.10
, pp. 1442-1447
-
-
Tabaraud, F.1
Lagrange, E.2
Sindou, P.3
Vandenberghe, A.4
Levy, N.5
Vallat, J.M.6
-
230
-
-
0030896412
-
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
-
DOI 10.1007/s004390050396
-
Janssen EA, Kemp S, Hensels GW, Sie OG, de Die-Smulders CE, Hoogendijk JE, de Visser M, Bolhuis PA. Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Hum Genet 1997;99:501-505. (Pubitemid 27152100)
-
(1997)
Human Genetics
, vol.99
, Issue.4
, pp. 501-505
-
-
Janssen, E.A.M.1
Kemp, S.2
Hensels, G.W.3
Sie, O.G.4
De Die-Smulders, C.E.M.5
Hoogendijk, J.E.6
De Visser, M.7
Bolhuis, P.A.8
-
231
-
-
0029788204
-
Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy
-
Ionasescu VV, Searby C, Ionasescu R, Neuhaus IM, Werner R. Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 1996;47:541-544. (Pubitemid 26324057)
-
(1996)
Neurology
, vol.47
, Issue.2
, pp. 541-544
-
-
Ionasescu, V.V.1
Searby, C..2
Ionasescu, R.3
Neuhaus, I.M.4
Werner, R.5
-
232
-
-
0035960628
-
Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene
-
Panas M, Kalfakis N, Karadimas C, Vassilopoulos D. Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene. Neurology 2001;57:1906-1908. (Pubitemid 33096707)
-
(2001)
Neurology
, vol.57
, Issue.10
, pp. 1906-1908
-
-
Panas, M.1
Kalfakis, N.2
Karadimas, C.3
Vassilopoulos, D.4
-
233
-
-
0037167535
-
Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment
-
Kawakami H, Inoue K, Sakakihara I, Nakamura S. Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment. Neurology 2002;59:923-926.
-
(2002)
Neurology
, vol.59
, pp. 923-926
-
-
Kawakami, H.1
Inoue, K.2
Sakakihara, I.3
Nakamura, S.4
-
234
-
-
0344608882
-
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation
-
DOI 10.1001/archneur.60.4.605
-
Hanemann CO, Bergmann C, Senderek J, Zerres K, Sperfeld AD. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol 2003;60:605-609. (Pubitemid 36427976)
-
(2003)
Archives of Neurology
, vol.60
, Issue.4
, pp. 605-609
-
-
Hanemann, C.O.1
Bergmann, C.2
Senderek, J.3
Zerres, K.4
Sperfeld, A.-D.5
-
235
-
-
9144258601
-
Connexin 32 promoter P2 mutations: A mechanism of peripheral nerve dysfunction
-
DOI 10.1002/ana.20267
-
Houlden H, Girard M, Cockerell C, Ingram D, Wood NW, Goossens M, Walker RW, Reilly MM. Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. Ann Neurol 2004;56:730-734. (Pubitemid 39540757)
-
(2004)
Annals of Neurology
, vol.56
, Issue.5
, pp. 730-734
-
-
Houlden, H.1
Girard, M.2
Cockerell, C.3
Ingram, D.4
Wood, N.W.5
Goossens, M.6
Walker, R.W.H.7
Reilly, M.M.8
-
236
-
-
18244399333
-
Severe neuropathy with leaky connexin32 hemichannels
-
DOI 10.1002/ana.20459
-
Liang GS, de Miguel M, Gómez-Hernández JM, Glass JD, Scherer SS, Mintz M, Barrio LC, Fischbeck KH. Severe neuropathy with leaky connexin32 hemichannels. Ann Neurol 2005;57:749-754. (Pubitemid 40628866)
-
(2005)
Annals of Neurology
, vol.57
, Issue.5
, pp. 749-754
-
-
Liang, G.S.L.1
De Miguel, M.2
Gomez-Hernandez, J.M.3
Glass, J.D.4
Scherer, S.S.5
Mintz, M.6
Barrio, L.C.7
Fischbeck, K.H.8
-
237
-
-
6044277961
-
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients
-
Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum Mutat 2004;24:185-186.
-
(2004)
Hum Mutat
, vol.24
, pp. 185-186
-
-
Choi, B.O.1
Lee, M.S.2
Shin, S.H.3
Hwang, J.H.4
Choi, K.G.5
Kim, W.K.6
Sunwoo, I.N.7
Kim, N.K.8
Chung, K.W.9
-
238
-
-
0032605229
-
Biological functions of connexin genes revealed by human genetic defects, dominant negative approaches and targeted deletions in the mouse
-
discussion 88-96
-
Willecke K, Kirchhoff S, Plum A, Temme A, Thonnissen E, Ott T. Biological functions of connexin genes revealed by human genetic defects, dominant negative approaches and targeted deletions in the mouse. Novartis Found Symp 1999;219:76-88, discussion 88-96.
-
(1999)
Novartis Found Symp
, vol.219
, pp. 76-88
-
-
Willecke, K.1
Kirchhoff, S.2
Plum, A.3
Temme, A.4
Thonnissen, E.5
Ott, T.6
-
239
-
-
0035899305
-
Synchronous activity of inhibitory networks in neocortex requires electrical synapses containing connexin36
-
DOI 10.1016/S0896-6273(01)00373-7
-
Deans MR, Gibson JR, Sellitto C, Connors BW, Paul DL. Synchronous activity of inhibitory networks in neocortex requires electrical synapses containing connexin36. Neuron 2001;31:477-485. (Pubitemid 32778565)
-
(2001)
Neuron
, vol.31
, Issue.3
, pp. 477-485
-
-
Deans, M.R.1
Gibson, J.R.2
Sellitto, C.3
Connors, B.W.4
Paul, D.L.5
-
240
-
-
0035882492
-
Visual transmission deficits in mice with targeted disruption of the gap junction gene connexin36
-
Güldenagel M, Ammermüller J, Feigenspan A, Teubner B, Degen J, Söhl G, Willecke K, Weiler R. Visual transmission deficits in mice with targeted disruption of the gap junction gene connexin36. J Neurosci 2001;21:6036-6044. (Pubitemid 32737737)
-
(2001)
Journal of Neuroscience
, vol.21
, Issue.16
, pp. 6036-6044
-
-
Guldenagel, M.1
Ammermuller, J.2
Feigenspan, A.3
Teubner, B.4
Degen, J.5
Sohl, G.6
Willecke, K.7
Weiler, R.8
-
241
-
-
33746855402
-
Connexin37 protects against atherosclerosis by regulating monocyte adhesion
-
DOI 10.1038/nm1441, PII NM1441
-
Wong CW, Christen T, Roth I, Chadjichristos CE, Derouette JP, Foglia BF, Chanson M, Goodenough DA, Kwak BR. Connexin37 protects against atherosclerosis by regulating monocyte adhesion. Nat Med 2006;12:950-954. (Pubitemid 44175148)
-
(2006)
Nature Medicine
, vol.12
, Issue.8
, pp. 950-954
-
-
Wong, C.W.1
Christen, T.2
Roth, I.3
Chadjichristos, C.E.4
Derouette, J.-P.5
Foglia, B.F.6
Chanson, M.7
Goodenough, D.A.8
Kwak, B.R.9
-
242
-
-
0043026950
-
High incidence of cardiac malformations in Connexin40-deficient mice
-
DOI 10.1161/01.RES.0000084852.65396.70
-
Gu H, Smith FC, Taffet SM, Delmar M. High incidence of cardiac malformations in connexin40-deficient mice. Circ Res 2003;93:201-206. (Pubitemid 36993230)
-
(2003)
Circulation Research
, vol.93
, Issue.3
, pp. 201-206
-
-
Gu, H.1
Smith, F.C.2
Taffet, S.M.3
Delmar, M.4
-
243
-
-
0032567887
-
Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block
-
Simon AM, Goodenough DA, Paul DL. Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block. Curr Biol 1998;8:295-298. (Pubitemid 28111462)
-
(1998)
Current Biology
, vol.8
, Issue.5
, pp. 295-298
-
-
Simon, A.M.1
Goodenough, D.A.2
Paul, D.L.3
-
244
-
-
0037320927
-
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
-
DOI 10.1086/346090
-
Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003;72:408-418. (Pubitemid 36194249)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.2
, pp. 408-418
-
-
Paznekas, W.A.1
Boyadjiev, S.A.2
Shapiro, R.E.3
Daniels, O.4
Wollnik, B.5
Keegan, C.E.6
Innis, J.W.7
Dinulos, M.B.8
Christian, C.9
Hannibal, M.C.10
Jabs, E.W.11
-
245
-
-
11844304106
-
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma
-
DOI 10.1002/ajmg.a.30412
-
van Steensel MA, Spruijt L, van der Burgt I, Bladergroen RS, Vermeer M, Steijlen PM, van Geel M. A 2-BP deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A 2005;132A:171-174. (Pubitemid 40093326)
-
(2005)
American Journal of Medical Genetics
, vol.132 A
, Issue.2
, pp. 171-174
-
-
Van Steensel, M.A.M.1
Spruijt, L.2
Van Der, B.I.3
Bladergroen, R.S.4
Vermeer, M.5
Steijlen, P.M.6
Van Geel, M.7
-
246
-
-
0035828196
-
Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)
-
DOI 10.1016/S0027-5107(01)00160-9, PII S0027510701001609
-
Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res 2001;479:173-186. (Pubitemid 32695499)
-
(2001)
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
, vol.479
, Issue.1-2
, pp. 173-186
-
-
Dasgupta, C.1
Martinez, A.-M.2
Zuppan, C.W.3
Shah, M.M.4
Bailey, L.L.5
Fletcher, W.H.6
-
247
-
-
12944252968
-
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly
-
DOI 10.1002/ajmg.a.30554
-
Vitiello C, D'Adamo P, Gentile F, Vingolo EM, Gasparini P, Banfi S. A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. Am J Med Genet A 2005;133A:58-60. (Pubitemid 40175566)
-
(2005)
American Journal of Medical Genetics
, vol.133 A
, Issue.1
, pp. 58-60
-
-
Vitiello, C.1
D'Adamo, P.2
Gentile, F.3
Vingolo, E.M.4
Gasparini, P.5
Banfi, S.6
-
248
-
-
33646678437
-
A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis
-
Kelly SC, Ratajczak P, Keller M, Purcell SM, Griffin T, Richard G. A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. Eur J Dermatol 2006;16:241-245. (Pubitemid 43736141)
-
(2006)
European Journal of Dermatology
, vol.16
, Issue.3
, pp. 241-245
-
-
Kelly, S.C.1
Ratajczak, P.2
Keller, M.3
Purcell, S.M.4
Griffin, T.5
Richard, G.6
-
249
-
-
33846815292
-
Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43
-
DOI 10.1002/ajmg.a.31558
-
Vreeburg M, de Zwart-Storm EA, Schouten MI, Nellen RG, Marcus-Soekarman D, Devies M, van Geel M, van Steensel MA. Skin changes in oculo-dento-digital dysplasia are correlated with c-terminal truncations of connexin 43. Am J Med Genet A 2007;143:360-363. (Pubitemid 46214199)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.4
, pp. 360-363
-
-
Vreeburg, M.1
De Zwart-Storm, E.A.2
Schouten, M.I.3
Nellen, R.G.L.4
Marcus-Soekarman, D.5
Devies, M.6
Van Geel, M.7
Van Steensel, M.A.M.8
-
250
-
-
33746810189
-
A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome
-
Richardson RJ, Joss S, Tomkin S, Ahmed M, Sheridan E, Dixon MJ. A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. J Med Genet 2006;43:e37.
-
(2006)
J Med Genet
, vol.43
-
-
Richardson, R.J.1
Joss, S.2
Tomkin, S.3
Ahmed, M.4
Sheridan, E.5
Dixon, M.J.6
-
251
-
-
0028907907
-
Cardiac malformation in neonatal mice lacking connexin43
-
Reaume AG, de Sousa PA, Kulkarni S, Langille BL, Zhu D, Davies TC, Juneja SC, Kidder GM, Rossant J. Cardiac malformation in neonatal mice lacking connexin43. Science 1995;267:1831-1834.
-
(1995)
Science
, vol.267
, pp. 1831-1834
-
-
Reaume, A.G.1
De Sousa, P.A.2
Kulkarni, S.3
Langille, B.L.4
Zhu, D.5
Davies, T.C.6
Juneja, S.C.7
Kidder, G.M.8
Rossant, J.9
-
252
-
-
0141498594
-
Connexin46 mutations in autosomal dominant congenital cataract
-
DOI 10.1086/302383
-
Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S. Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet 1999;64:1357-1364. (Pubitemid 30468753)
-
(1999)
American Journal of Human Genetics
, vol.64
, Issue.5
, pp. 1357-1364
-
-
Mackay, D.1
Ionides, A.2
Kibar, Z.3
Rouleau, G.4
Berry, V.5
Moore, A.6
Shiels, A.7
Bhattacharya, S.8
-
253
-
-
0034019915
-
3)
-
DOI 10.1007/s004390051029
-
Rees MI, Watts P, Fenton I, Clarke A, Snell RG, Owen MJ, Gray J. Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). Hum Genet 2000;106:206-209. (Pubitemid 30156425)
-
(2000)
Human Genetics
, vol.106
, Issue.2
, pp. 206-209
-
-
Rees, M.I.1
Watts, P.2
Fenton, I.3
Clarke, A.4
Snell, R.G.5
Owen, M.J.6
Gray, J.7
-
254
-
-
16544394632
-
A novel mutation in the connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance
-
Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM. A novel mutation in the connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. J Med Genet 2004;41:e106.
-
(2004)
J Med Genet
, vol.41
-
-
Burdon, Kp.1
Wirth, M.G.2
Mackey, D.A.3
Russell-Eggitt, I.M.4
Craig, J.E.5
Elder, J.E.6
Dickinson, J.L.7
Sale, M.M.8
-
255
-
-
0031283282
-
3 connexin gene leads to proteolysis and cataractogenesis in mice
-
DOI 10.1016/S0092-8674(00)80471-7
-
Gong X, Li E, Klier G, Huang Q, Wu Y, Lei H, Kumar NM, Horwitz J, Gilula NB. Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice. Cell 1997;91:833-843. (Pubitemid 28007739)
-
(1997)
Cell
, vol.91
, Issue.6
, pp. 833-843
-
-
Gong, X.1
Li, E.2
Klier, G.3
Huang, Q.4
Wu, Y.5
Lei, H.6
Kumar, N.M.7
Horwitz, J.8
Gilula, N.B.9
-
256
-
-
3242693178
-
Mutations in the gene encoding gap junction protein alpha12 (Connexin 46.6) cause Pelizaeus-Merbacher-like disease
-
DOI 10.1086/422763
-
Uhlenberg B, Schuelke M, Rüschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloǧlu H, et al. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet 2004;75:251-260. (Pubitemid 38943868)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.2
, pp. 251-260
-
-
Uhlenberg, B.1
Schuelke, M.2
Ruschendorf, F.3
Ruf, N.4
Kaindl, A.M.5
Henneke, M.6
Thiele, H.7
Stoltenburg-Didinger, G.8
Aksu, F.9
Topaloglu, H.10
Nurnberg, P.11
Hubner, C.12
Weschke, B.13
Gartner, J.14
-
257
-
-
33845607250
-
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination
-
DOI 10.1007/s10048-006-0062-0
-
Wolf NI, Cundall M, Rutland P, Rosser E, Surtees R, Benton S, Chong WK, Malcolm S, Ebinger F, Bitner-Glindzicz M, et al. Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. Neurogenetics 2007;8:39-44. (Pubitemid 44951517)
-
(2007)
Neurogenetics
, vol.8
, Issue.1
, pp. 39-44
-
-
Wolf, N.I.1
Cundall, M.2
Rutland, P.3
Rosser, E.4
Surtees, R.5
Benton, S.6
Chong, W.K.7
Malcolm, S.8
Ebinger, F.9
Bitner-Glindzicz, M.10
Woodward, K.J.11
-
258
-
-
41649092989
-
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
-
Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, et al. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology 2008;70:748-754.
-
(2008)
Neurology
, vol.70
, pp. 748-754
-
-
Henneke, M.1
Combes, P.2
Diekmann, S.3
Bertini, E.4
Brockmann, K.5
Burlina, A.P.6
Kaiser, J.7
Ohlenbusch, A.8
Plecko, B.9
Rodriguez, D.10
-
259
-
-
0038456539
-
Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS
-
Odermatt B, Wellershaus K, Wallraff A, Seifert G, Degen J, Euwens C, Fuss B, Büssow H, Schilling K, Steinhäuser C, et al. Connexin 47 (CX47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of CX47 and display vacuolized myelin in the CNS. J Neurosci 2003;23:4549-4559. (Pubitemid 36706185)
-
(2003)
Journal of Neuroscience
, vol.23
, Issue.11
, pp. 4549-4559
-
-
Odermatt, B.1
Wellershaus, K.2
Wallraff, A.3
Seifert, G.4
Degen, J.5
Euwens, C.6
Fuss, B.7
Bussow, H.8
Schilling, K.9
Steinhauser, C.10
Willecke, K.11
-
260
-
-
0031959735
-
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q
-
DOI 10.1086/301762
-
Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet 1998;62:526-532. (Pubitemid 28164609)
-
(1998)
American Journal of Human Genetics
, vol.62
, Issue.3
, pp. 526-532
-
-
Shiels, A.1
Mackay, D.2
Ionides, A.3
Berry, V.4
Moore, A.5
Bhattacharya, S.6
-
261
-
-
0032780886
-
Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin
-
DOI 10.1007/s004390051082
-
Berry V, Mackay D, Khaliq S, Francis PJ, Hameed A, Anwar K, Mehdi SQ, Newbold RJ, Ionides A, Shiels A, et al. Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. Hum Genet 1999;105:168-170. (Pubitemid 29396983)
-
(1999)
Human Genetics
, vol.105
, Issue.1-2
, pp. 168-170
-
-
Berry, V.1
Mackay, D.2
Khaliq, S.3
Francis, P.J.4
Hameed, A.5
Anwar, K.6
Mehdi, S.Q.7
Newbold, R.J.8
Ionides, A.9
Shiels, A.10
Moore, T.11
Bhattacharya, S.S.12
-
262
-
-
0035697326
-
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract
-
Polyakov AV, Shagina IA, Khlebnikova OV, Evgrafov OV. Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Clin Genet 2001;60:476-478.
-
(2001)
Clin Genet
, vol.60
, pp. 476-478
-
-
Polyakov, A.V.1
Shagina, I.A.2
Khlebnikova, O.V.3
Evgrafov, O.V.4
-
263
-
-
1542648244
-
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract
-
Willoughby CE, Arab S, Gandhi R, Zeinali S, Arab S, Luk D, Billingsley G, Munier FL, Héon E. A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. J Med Genet 2003;40:e124.
-
(2003)
J Med Genet
, vol.40
-
-
Willoughby, C.E.1
Arab, S.2
Gandhi, R.3
Zeinali, S.4
Arab, S.5
Luk, D.6
Billingsley, G.7
Munier, F.L.8
Héon, E.9
-
264
-
-
33645115350
-
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea
-
Devi RR, Vijayalakshmi P. Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. Mol Vis 2006;12:190-195.
-
(2006)
Mol Vis
, vol.12
, pp. 190-195
-
-
Devi, R.R.1
Vijayalakshmi, P.2
-
265
-
-
40649109321
-
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts
-
DOI 10.1136/jmg.2007.051029
-
Arora A, Minogue PJ, Liu X, Addison PK, Russel-Eggitt I, Webster AR, Hunt DM, Ebihara L, Beyer EC, Berthoud VM, et al. A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet 2008;45:155-160. (Pubitemid 351373744)
-
(2008)
Journal of Medical Genetics
, vol.45
, Issue.3
, pp. 155-160
-
-
Arora, A.1
Minogue, P.J.2
Liu, X.3
Addison, P.K.4
Russel-Eggitt, I.5
Webster, A.R.6
Hunt, D.M.7
Ebihara, L.8
Beyer, E.C.9
Berthoud, V.M.10
Moore, A.T.11
-
266
-
-
0032476578
-
Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts
-
DOI 10.1083/jcb.143.3.815
-
White TW, Goodenough DA, Paul DL. Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts. J Cell Biol 1998;143:815-825. (Pubitemid 28512573)
-
(1998)
Journal of Cell Biology
, vol.143
, Issue.3
, pp. 815-825
-
-
White, T.W.1
Goodenough, D.A.2
Paul, D.L.3
|