-
1
-
-
53949119553
-
Plakoglobin is required for effective intermediate filament anchorage to desmosomes
-
Acehan D, Petzold C, Gumper I, Sabatini DD, Muller EJ, Cowin P, Stokes DL (2008). Plakoglobin is required for effective intermediate filament anchorage to desmosomes. J Invest Dermatol, 128 : 2665-2675.
-
(2008)
J Invest Dermatol
, vol.128
, pp. 2665-2675
-
-
Acehan, D.1
Petzold, C.2
Gumper, I.3
Sabatini, D.D.4
Muller, E.J.5
Cowin, P.6
Stokes, D.L.7
-
2
-
-
84855822415
-
Tumor necrosis factor signaling requires iRhom2 to promote trafficking and activation of TACE
-
Adrain C, Zettl M, Christova Y, Taylor N, Freeman M (2012). Tumor necrosis factor signaling requires iRhom2 to promote trafficking and activation of TACE. Science. 335 : 225-228.
-
(2012)
Science
, vol.335
, pp. 225-228
-
-
Adrain, C.1
Zettl, M.2
Christova, Y.3
Taylor, N.4
Freeman, M.5
-
4
-
-
0037811950
-
A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
-
Alcalai R, Metzger S, Rosenheck S, Meiner V, Chajek-Shaul T (2003). A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Card. 42 : 319-327.
-
(2003)
J Am Coll Card.
, vol.42
, pp. 319-327
-
-
Alcalai, R.1
Metzger, S.2
Rosenheck, S.3
Meiner, V.4
Chajek-Shaul, T.5
-
5
-
-
0025165922
-
Desmoplakin II expression is not restricted to stratified epithelia
-
Angst BD, Nilles LA, Green KJ (1990). Desmoplakin II expression is not restricted to stratified epithelia. J Cell Sci. 97: 247-257.
-
(1990)
J Cell Sci.
, vol.97
, pp. 247-257
-
-
Angst, B.D.1
Nilles, L.A.2
Green, K.J.3
-
6
-
-
0032930569
-
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma
-
Armstrong D, Mckenna K, Purkis P, Green K, Eady R, Leigh I, Hughes A (1999). Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet. 8 : 143-148.
-
(1999)
Hum Mol Genet.
, vol.8
, pp. 143-148
-
-
Armstrong, D.1
McKenna, K.2
Purkis, P.3
Green, K.4
Eady, R.5
Leigh, I.6
Hughes, A.7
-
7
-
-
35348913125
-
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy
-
Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, Mckenna WJ (2007). A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy. Am J Hum Genet. 81 : 964-973.
-
(2007)
Am J Hum Genet.
, vol.81
, pp. 964-973
-
-
Asimaki, A.1
Syrris, P.2
Wichter, T.3
Matthias, P.4
Saffitz, J.E.5
McKenna, W.J.6
-
8
-
-
33745231792
-
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy
-
Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP (2006a). DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet. 79 : 136-142.
-
(2006)
Am J Hum Genet.
, vol.79
, 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
-
9
-
-
34147208940
-
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2
-
Awad MM, Dalal D, Tichnell C, James C, Tucker A, Abraham T, Spevak PJ, Calkins H, Judge DP (2006b). Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat. 27 : 1157-1167.
-
(2006)
Hum Mutat.
, vol.27
, pp. 1157-1167
-
-
Awad, M.M.1
Dalal, D.2
Tichnell, C.3
James, C.4
Tucker, A.5
Abraham, T.6
Spevak, P.J.7
Calkins, H.8
Judge, D.P.9
-
10
-
-
70350492104
-
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles
-
Ayub M, Basit S, Jelani M, Rehman FU, Iqbal M, Yasinzai M, Ahmad W (2009). A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. Am J Hum Genet. 85 : 515-520.
-
(2009)
Am J Hum Genet.
, vol.85
, pp. 515-520
-
-
Ayub, M.1
Basit, S.2
Jelani, M.3
Rehman, F.U.4
Iqbal, M.5
Yasinzai, M.6
Ahmad, W.7
-
11
-
-
0035723371
-
Isoformspecific differences in the size of desmosomal cadherin/catenin complexes
-
Bannon LJ, Cabrera BL, Stack MS, Green KJ (2001). Isoformspecific differences in the size of desmosomal cadherin/catenin complexes. J Invest Dermatol. 117 : 1302-1306.
-
(2001)
J Invest Dermatol.
, vol.117
, pp. 1302-1306
-
-
Bannon, L.J.1
Cabrera, B.L.2
Stack, M.S.3
Green, K.J.4
-
12
-
-
44149127750
-
Plakophilin 2: A critical scaffold for PKC alpha that regulates intercellular junction assembly
-
Bass-Zubek AE, Hobbs RP, Amargo EV, Garcia NJ, Hsieh SN, Chen X, Wahl JK, iii DENNING, MF, Green KJ (2008). Plakophilin 2: a critical scaffold for PKC alpha that regulates intercellular junction assembly. J Cell Biol. 181 : 605-613.
-
(2008)
J Cell Biol.
, vol.181
, pp. 605-613
-
-
Bass-Zubek, A.E.1
Hobbs, R.P.2
Amargo, E.V.3
Garcia, N.J.4
Hsieh, S.N.5
Chen, X.6
Wahl, J.K.7
Denning III, M.F.8
Green, K.J.9
-
13
-
-
33644873461
-
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats
-
Bazzi H, Martinez-Mir A, Kljuic A, Christiano AM (2005). Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. J Invest Dermatol Symp Proc. 10 : 222-224.
-
(2005)
J Invest Dermatol Symp Proc.
, vol.10
, pp. 222-224
-
-
Bazzi, H.1
Martinez-Mir, A.2
Kljuic, A.3
Christiano, A.M.4
-
14
-
-
33745477470
-
Proteomic identification of desmoglein 2 and activated leukocyte cell adhesion molecule as substrates of ADAM17 and ADAM10 by difference gel electrophoresis
-
Bech-Serra JJ, Santiago-Josefat B, Esselens C, Saftig P, Baselga J, Arribas J, Canals F (2006). Proteomic identification of desmoglein 2 and activated leukocyte cell adhesion molecule as substrates of ADAM17 and ADAM10 by difference gel electrophoresis. Mol Cell Biol. 26 : 5086-5095.
-
(2006)
Mol Cell Biol.
, vol.26
, pp. 5086-5095
-
-
Bech-Serra, J.J.1
Santiago-Josefat, B.2
Esselens, C.3
Saftig, P.4
Baselga, J.5
Arribas, J.6
Canals, F.7
-
15
-
-
0017699388
-
Darier's disease: A kindred with a large number of cases
-
Beck AL, Jr., Finocchio AF, White JP (1977). Darier's disease: a kindred with a large number of cases. Br J Dermatol. 97 : 335-339.
-
(1977)
Br J Dermatol.
, vol.97
, pp. 335-339
-
-
Beck Jr., A.L.1
Finocchio, A.F.2
White, J.P.3
-
16
-
-
0030589631
-
Embryonic heart and skin defects in mice lacking plakoglobin
-
Bierkamp C, Mclaughlin KJ, Schwarz H, Huber O, Kemler R (1996). Embryonic heart and skin defects in mice lacking plakoglobin. Dev Biol. 180 : 780-785.
-
(1996)
Dev Biol.
, vol.180
, pp. 780-785
-
-
Bierkamp, C.1
McLaughlin, K.J.2
Schwarz, H.3
Huber, O.4
Kemler, R.5
-
17
-
-
80054731104
-
Inflammatory skin and bowel disease linked to ADAM17 Deletion
-
Blaydon DC, Biancheri MD, Di WL, Plagnol V, Cabral RM, Brooke MA, Van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, Macdonald TT, Harper JI, Kelsell DP (2011a). Inflammatory skin and bowel disease linked to ADAM17 Deletion. N Eng J Med. 365 : 32-38.
-
(2011)
N Eng J Med.
, vol.365
, pp. 32-38
-
-
Blaydon, D.C.1
Biancheri, M.D.2
Di, W.L.3
Plagnol, V.4
Cabral, R.M.5
Brooke, M.A.6
Van Heel, D.A.7
Ruschendorf, F.8
Toynbee, M.9
Walne, A.10
O'Toole, E.A.11
Martin, J.E.12
Lindley, K.13
Vulliamy, T.14
Abrams, D.J.15
MacDonald, T.T.16
Harper, J.I.17
Kelsell, D.P.18
-
18
-
-
80053917246
-
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cellcell adhesion
-
Blaydon DC, Nitoiu D, Eckl KM, Cabral RM, Bland P, Hausser I, Van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC, Kelsell DP (2011b). Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cellcell adhesion. Am J Hum Genet. 89 : 564-571.
-
(2011)
Am J Hum Genet.
, vol.89
, pp. 564-571
-
-
Blaydon, D.C.1
Nitoiu, D.2
Eckl, K.M.3
Cabral, R.M.4
Bland, P.5
Hausser, I.6
Van Heel, D.A.7
Rajpopat, S.8
Fischer, J.9
Oji, V.10
Zvulunov, A.11
Traupe, H.12
Hennies, H.C.13
Kelsell, D.P.14
-
19
-
-
84857058050
-
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
-
Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, Mcronald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP (2012). RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet. 90 : 340-346.
-
(2012)
Am J Hum Genet.
, vol.90
, pp. 340-346
-
-
Blaydon, D.C.1
Etheridge, S.L.2
Risk, J.M.3
Hennies, H.C.4
Gay, L.J.5
Carroll, R.6
Plagnol, V.7
McRonald, F.E.8
Stevens, H.P.9
Spurr, N.K.10
Bishop, D.T.11
Ellis, A.12
Jankowski, J.13
Field, J.K.14
Leigh, I.M.15
South, A.P.16
Kelsell, D.P.17
-
20
-
-
0032779596
-
Plakophilin-3, a novel armadillo-like protein present in nuclei and desmosomes of epithelial cells
-
Bonne S, Van Hengel J., Nollet F, Kools P, Van Roy F (1999). Plakophilin-3, a novel armadillo-like protein present in nuclei and desmosomes of epithelial cells. J Cell Sci. 112 (Pt 14) : 2265-2276.
-
(1999)
J Cell Sci.
, vol.112
, Issue.PART 14
, pp. 2265-2276
-
-
Bonne, S.1
Van Hengel, J.2
Nollet, F.3
Kools, P.4
Van Roy, F.5
-
21
-
-
0035076526
-
Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders
-
Bornslaeger EA, Godsel LM, Corcoran CM, Park JK, Hatzfeld M, Kowalczyk AP, Green KJ (2001). Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders. J Cell Sci. 114 : 727-738.
-
(2001)
J Cell Sci.
, vol.114
, pp. 727-738
-
-
Bornslaeger, E.A.1
Godsel, L.M.2
Corcoran, C.M.3
Park, J.K.4
Hatzfeld, M.5
Kowalczyk, A.P.6
Green, K.J.7
-
22
-
-
84856955673
-
Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene
-
Boyce AE, McGrath JA, Techanukul T, Murrell DF, Chow CW, Mcgregor L, Warren LJ (2012). Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. Australas J Dermatol. 53: 61-65.
-
(2012)
Australas J Dermatol.
, vol.53
, pp. 61-65
-
-
Boyce, A.E.1
McGrath, J.A.2
Techanukul, T.3
Murrell, D.F.4
Chow, C.W.5
McGregor, L.6
Warren, L.J.7
-
23
-
-
84901407239
-
IRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function
-
Epub ahead of print, doi:. 10.1093/hmg/ddu120
-
Brooke MA, Etheridge SL, Kaplan N, Simpson C, O'toole E, Ishida-Yamamoto A, Marches O, Getsios S, Kelsell DP (2014). iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function. Hum Mol Genet. Epub ahead of print, doi:. 10.1093/hmg/ddu120
-
(2014)
Hum Mol Genet.
-
-
Brooke, M.A.1
Etheridge, S.L.2
Kaplan, N.3
Simpson, C.4
O'Toole, E.5
Ishida-Yamamoto, A.6
Marches, O.7
Getsios, S.8
Kelsell, D.P.9
-
24
-
-
82755194912
-
Cell-cell connectivity: Desmosomes and disease
-
Brooke MA, Nitoiu D, Kelsell DP (2012). Cell-cell connectivity: desmosomes and disease. J Pathol. 226 : 158-171.
-
(2012)
J Pathol.
, vol.226
, pp. 158-171
-
-
Brooke, M.A.1
Nitoiu, D.2
Kelsell, D.P.3
-
25
-
-
77952420966
-
Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children
-
Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJC, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente MDC, Kelsell DP, McGrath JA, South AP (2010a). Homozygous mutations in the 5′ region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol. 130 : 1543-1550.
-
(2010)
J Invest Dermatol.
, vol.130
, pp. 1543-1550
-
-
Cabral, R.M.1
Liu, L.2
Hogan, C.3
Dopping-Hepenstal, P.J.C.4
Winik, B.C.5
Asial, R.A.6
Dobson, R.7
Mein, C.A.8
Baselaga, P.A.9
Mellerio, J.E.10
Nanda, A.11
Boente, M.D.C.12
Kelsell, D.P.13
McGrath, J.A.14
South, A.P.15
-
26
-
-
77954385727
-
Identification and characterization of DSPIa, a novel isoform of human desmoplakin
-
Cabral RM, Wan H, Cole CL, Abrams DJ, Kelsell DP, South AP (2010b). Identification and characterization of DSPIa, a novel isoform of human desmoplakin. Cell Tissue Res. 341 : 121-129.
-
(2010)
Cell Tissue Res.
, vol.341
, pp. 121-129
-
-
Cabral, R.M.1
Wan, H.2
Cole, C.L.3
Abrams, D.J.4
Kelsell, D.P.5
South, A.P.6
-
27
-
-
84869143939
-
The DSPII splice variant is critical for desmosome-mediated HaCaT keratinocyte adhesion
-
Cabral RM, Tattersall D, Patel V, Hatzimasoura E, Abrams DJ, South AP, Kelsell DP (2012). The DSPII splice variant is critical for desmosome-mediated HaCaT keratinocyte adhesion. J Cell Sci. 125 : 2853-2861.
-
(2012)
J Cell Sci.
, vol.125
, pp. 2853-2861
-
-
Cabral, R.M.1
Tattersall, D.2
Patel, V.3
Hatzimasoura, E.4
Abrams, D.J.5
South, A.P.6
Kelsell, D.P.7
-
28
-
-
84858276574
-
SERCA2-controlled Ca(2)+ - Dependent keratinocyte adhesion and differentiation is mediated via the sphingolipid pathway: A therapeutic target for Darier's disease
-
Celli A, Mackenzie DS, Zhai Y, Tu CL, Bikle DD, Holleran WM, Uchida Y, Mauro TM (2012). SERCA2-controlled Ca(2)+ - dependent keratinocyte adhesion and differentiation is mediated via the sphingolipid pathway: a therapeutic target for Darier's disease. J Invest Dermatol. 132 : 1188-1195.
-
(2012)
J Invest Dermatol.
, vol.132
, pp. 1188-1195
-
-
Celli, A.1
MacKenzie, D.S.2
Zhai, Y.3
Tu, C.L.4
Bikle, D.D.5
Holleran, W.M.6
Uchida, Y.7
Mauro, T.M.8
-
29
-
-
0037155877
-
Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta-catenin Signaling
-
Chen X, Bonne S, Hatzfeld M, Van Roy F, Green KJ (2002). Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling. J Biol Chem. 277 : 10512-10522.
-
(2002)
J Biol Chem.
, vol.277
, pp. 10512-10522
-
-
Chen, X.1
Bonne, S.2
Hatzfeld, M.3
Van Roy, F.4
Green, K.J.5
-
30
-
-
0035956432
-
Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation
-
Chidgey M (2001). Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation. J Cell Biol. 155 : 821-832.
-
(2001)
J Cell Biol.
, vol.155
, pp. 821-832
-
-
Chidgey, M.1
-
31
-
-
70450280500
-
Interactions of plakoglobin and beta-catenin with desmosomal cadherins: Basis of selective exclusion of alpha- and beta-catenin from desmosomes
-
Choi HJ, Gross JC, Pokutta S, Weis WI (2009). Interactions of plakoglobin and beta-catenin with desmosomal cadherins: basis of selective exclusion of alpha- and beta-catenin from desmosomes. J Biol Chem. 284 : 31776-31788.
-
(2009)
J Biol Chem.
, vol.284
, pp. 31776-31788
-
-
Choi, H.J.1
Gross, J.C.2
Pokutta, S.3
Weis, W.I.4
-
32
-
-
0036316492
-
Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure
-
Choi HJ, Park-Snyder S, Pascoe LT, Green KJ, Weis WI (2002). Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure. Nat Struct Biol. 9 : 612-620.
-
(2002)
Nat Struct Biol.
, vol.9
, pp. 612-620
-
-
Choi, H.J.1
Park-Snyder, S.2
Pascoe, L.T.3
Green, K.J.4
Weis, W.I.5
-
33
-
-
77449142413
-
Induction of hyperadhesion attenuates autoimmune-induced keratinocyte cellcell detachment and processing of adhesion molecules via mechanisms that involve PKC
-
Cirillo N, Lanza A, Prime SS (2010). Induction of hyperadhesion attenuates autoimmune-induced keratinocyte cellcell detachment and processing of adhesion molecules via mechanisms that involve PKC. Exp Cell Res. 316 : 580-592.
-
(2010)
Exp Cell Res.
, vol.316
, pp. 580-592
-
-
Cirillo, N.1
Lanza, A.2
Prime, S.S.3
-
34
-
-
0025821552
-
Cloning and sequence analysis of desmosomal glycoproteins 2 and 3 (desmocollins): Cadherinlike desmosomal adhesion molecules with heterogeneous cytoplasmic domains
-
Collins JE, Legan PK, Kenny TP, Macgarvie J, Holton JL, Garrod DR (1991). Cloning and sequence analysis of desmosomal glycoproteins 2 and 3 (desmocollins): cadherinlike desmosomal adhesion molecules with heterogeneous cytoplasmic domains. J Cell Biol. 113 : 381-391.
-
(1991)
J Cell Biol.
, vol.113
, pp. 381-391
-
-
Collins, J.E.1
Legan, P.K.2
Kenny, T.P.3
MacGarvie, J.4
Holton, J.L.5
Garrod, D.R.6
-
35
-
-
77957267604
-
The cardiac desmosome and arrhythmogenic cardiomyopathies: From gene to disease
-
Delmar M, McKenna WJ (2010). The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease. Circ Res. 107 : 700-714.
-
(2010)
Circ Res.
, vol.107
, pp. 700-714
-
-
Delmar, M.1
McKenna, W.J.2
-
38
-
-
0346993780
-
Impaired trafficking of the desmoplakins in cultured Darier's disease keratinocytes
-
Dhitavat J, Cobbold C, Leslie N, Burge S, Hovnanian A (2003). Impaired trafficking of the desmoplakins in cultured Darier's disease keratinocytes. J Invest Dermatol. 121 : 1349-1355.
-
(2003)
J Invest Dermatol.
, vol.121
, pp. 1349-1355
-
-
Dhitavat, J.1
Cobbold, C.2
Leslie, N.3
Burge, S.4
Hovnanian, A.5
-
39
-
-
0348111468
-
2+ -ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses
-
2+ -ATPase (SERCA) 1 and 2 isoforms and characterization of Darier disease (SERCA2) mutants by steady-state and transient kinetic analyses. J Biol Chem. 278 : 47877-47889.
-
(2003)
J Biol Chem.
, vol.278
, pp. 47877-47889
-
-
Dode, L.1
Andersen, J.P.2
Leslie, N.3
Dhitavat, J.4
Vilsen, B.5
Hovnanian, A.6
-
40
-
-
0028327308
-
Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family-A review of six generations
-
Ellis A, Field JK, Field EA, Friedmann PS, Fryer A, Howard P, Leigh IM, Risk J, Shaw JM, Whittaker J (1994). Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family-a review of six generations. Eur J Cancer B Oral Oncol. 30B : 102-112.
-
(1994)
Eur J Cancer B Oral Oncol.
, vol.30 B
, pp. 102-112
-
-
Ellis, A.1
Field, J.K.2
Field, E.A.3
Friedmann, P.S.4
Fryer, A.5
Howard, P.6
Leigh, I.M.7
Risk, J.8
Shaw, J.M.9
Whittaker, J.10
-
41
-
-
80053575074
-
Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation
-
Erken H, Yariz KO, Duman D, Kaya CT, Sayin T, Heper AO, Tekin M (2011). Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation. Br J Dermatol. 165 : 917-921
-
(2011)
Br J Dermatol.
, vol.165
, pp. 917-921
-
-
Erken, H.1
Yariz, K.O.2
Duman, D.3
Kaya, C.T.4
Sayin, T.5
Heper, A.O.6
Tekin, M.7
-
42
-
-
33744983767
-
Ectodermal dysplasiaskin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1
-
Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, Surucu S, McGrath JA (2006). Ectodermal dysplasiaskin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol. 55 : 157-161.
-
(2006)
J Am Acad Dermatol.
, vol.55
, pp. 157-161
-
-
Ersoy-Evans, S.1
Erkin, G.2
Fassihi, H.3
Chan, I.4
Paller, A.S.5
Surucu, S.6
McGrath, J.A.7
-
43
-
-
0000752197
-
Junctional complexes in various epithelia
-
Farquhar MG, Palade GE (1963). Junctional complexes in various epithelia. J Cell Biol. 17 : 375-412.
-
(1963)
J Cell Biol.
, vol.17
, pp. 375-412
-
-
Farquhar, M.G.1
Palade, G.E.2
-
45
-
-
31344461886
-
The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins
-
Franke WW, Borrmann CM, Grund C, Pieperhoff S (2006). The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins. Eur J Cell Biol. 85 : 69-82.
-
(2006)
Eur J Cell Biol.
, vol.85
, pp. 69-82
-
-
Franke, W.W.1
Borrmann, C.M.2
Grund, C.3
Pieperhoff, S.4
-
46
-
-
33846816953
-
The area composita of adhering junctions connecting heart muscle cells of vertebrates - III: Assembly and disintegration of intercalated disks in rat cardiomyocytes growing in culture
-
Franke WW, Schumacher H, Borrmann CM, Grund C, Winter-Simanowski S, Schlechter T, Pieperhoff S, Hofmann I (2007). The area composita of adhering junctions connecting heart muscle cells of vertebrates - III: assembly and disintegration of intercalated disks in rat cardiomyocytes growing in culture. Eur J Cell Biol. 86 : 127-142.
-
(2007)
Eur J Cell Biol.
, vol.86
, pp. 127-142
-
-
Franke, W.W.1
Schumacher, H.2
Borrmann, C.M.3
Grund, C.4
Winter-Simanowski, S.5
Schlechter, T.6
Pieperhoff, S.7
Hofmann, I.8
-
47
-
-
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 (2001). Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature. Development. 128 : 929-941.
-
(2001)
Development
, vol.128
, pp. 929-941
-
-
Gallicano, G.I.1
Bauer, C.2
Fuchs, E.3
-
48
-
-
20644437528
-
Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage
-
Gallicano GI, Kouklis P, Bauer C, Yin M, Vasioukhin V, Degenstein L, Fuchs E (1998). Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol. 143 : 2009-2022.
-
(1998)
J Cell Biol.
, vol.143
, pp. 2009-2022
-
-
Gallicano, G.I.1
Kouklis, P.2
Bauer, C.3
Yin, M.4
Vasioukhin, V.5
Degenstein, L.6
Fuchs, E.7
-
49
-
-
30544454786
-
Hyper-adhesion in desmosomes: Its regulation in wound healing and possible relationship to cadherin crystal structure
-
Garrod DR (2005). Hyper-adhesion in desmosomes: its regulation in wound healing and possible relationship to cadherin crystal structure. J Cell Sci. 118 : 5743-5754.
-
(2005)
J Cell Sci.
, vol.118
, pp. 5743-5754
-
-
Garrod, D.R.1
-
51
-
-
11444264507
-
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
-
Gerull B, Heuser A, Wichter T, Paul M, Basson CT, Mcdermott DA, Lerman BB, Markowitz SM, Ellinor PT, Macrae CA, Peters S, Grossmann KS, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L (2004). Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet. 36 : 1162-1164.
-
(2004)
Nat Genet.
, vol.36
, 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
-
52
-
-
21644435545
-
Coordinated expression of desmoglein 1 and desmocollin 1 regulates intercellular adhesion
-
Getsios S, Amargo EV, Dusek RL, Ishii K, Sheu L, Godsel LM, Green KJ (2004a). Coordinated expression of desmoglein 1 and desmocollin 1 regulates intercellular adhesion. Differentiation. 72 : 419-433.
-
(2004)
Differentiation.
, vol.72
, pp. 419-433
-
-
Getsios, S.1
Amargo, E.V.2
Dusek, R.L.3
Ishii, K.4
Sheu, L.5
Godsel, L.M.6
Green, K.J.7
-
53
-
-
1842733459
-
Working out the strength and flexibility of desmosomes
-
Getsios S, Huen AC, Green KJ (2004b). Working out the strength and flexibility of desmosomes. Nat Rev Mol Cell Biol. 5 : 271-281.
-
(2004)
Nat Rev Mol Cell Biol.
, vol.5
, pp. 271-281
-
-
Getsios, S.1
Huen, A.C.2
Green, K.J.3
-
54
-
-
29144493487
-
Desmoplakin assembly dynamics in four dimensions: Multiple phases differentially regulated by intermediate filaments and actin
-
Godsel LM, Hsieh SN, Amargo EV, Bass AE, Pascoe-Mcgillicuddy LT, Huen AC, Thorne ME, Gaudry CA, Park JK, Myung K, Goldman RD, Chew TL, Green KJ (2005). Desmoplakin assembly dynamics in four dimensions: multiple phases differentially regulated by intermediate filaments and actin. J Cell Biol. 171 : 1045-1059.
-
(2005)
J Cell Biol.
, vol.171
, pp. 1045-1059
-
-
Godsel, L.M.1
Hsieh, S.N.2
Amargo, E.V.3
Bass, A.E.4
Pascoe-Mcgillicuddy, L.T.5
Huen, A.C.6
Thorne, M.E.7
Gaudry, C.A.8
Park, J.K.9
Myung, K.10
Goldman, R.D.11
Chew, T.L.12
Green, K.J.13
-
55
-
-
0034568948
-
Are desmosomes more than tethers for intermediate filaments?
-
Green KJ, Gaudry CA (2000). Are desmosomes more than tethers for intermediate filaments? Nat Rev Mol Cell Biol. 1 : 208-216.
-
(2000)
Nat Rev Mol Cell Biol.
, vol.1
, pp. 208-216
-
-
Green, K.J.1
Gaudry, C.A.2
-
56
-
-
77956660919
-
Intercellular junction assembly, dynamics, and homeostasis
-
Green KJ, Getsios S, Troyanovsky S, Godsel LM (2010). Intercellular junction assembly, dynamics, and homeostasis. Cold Spring Harb Perspect Biol. 2 : a000125.
-
(2010)
Cold Spring Harb Perspect Biol.
, vol.2
-
-
Green, K.J.1
Getsios, S.2
Troyanovsky, S.3
Godsel, L.M.4
-
57
-
-
5444235947
-
Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation
-
Grossmann KS, Grund C, Huelsken J, Behrend M, Erdmann B, Franke WW, Birchmeier W (2004). Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J Cell Biol. 167 : 149-160.
-
(2004)
J Cell Biol.
, vol.167
, 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
-
58
-
-
0038581051
-
TACE cleavage of proamphiregulin regulates GPCR-induced proliferation and motility of cancer cells
-
Gschwind A, Hart S, Fischer OM, Ullrich A (2003). TACE cleavage of proamphiregulin regulates GPCR-induced proliferation and motility of cancer cells. EMBO J. 22 : 2411-2421.
-
(2003)
EMBO J.
, vol.22
, pp. 2411-2421
-
-
Gschwind, A.1
Hart, S.2
Fischer, O.M.3
Ullrich, A.4
-
59
-
-
14844340468
-
The p120 family of cell adhesion molecules
-
Hatzfeld M (2005). The p120 family of cell adhesion molecules. Eur J Cell Biol. 84 : 205-214.
-
(2005)
Eur J Cell Biol.
, vol.84
, pp. 205-214
-
-
Hatzfeld, M.1
-
60
-
-
33845383688
-
Plakophilins: Multifunctional proteins or just regulators of desmosomal adhesion?
-
Hatzfeld M (2007). Plakophilins: multifunctional proteins or just regulators of desmosomal adhesion? Biochim Biophys Acta. 1773 : 69-77.
-
(2007)
Biochim Biophys Acta.
, vol.1773
, pp. 69-77
-
-
Hatzfeld, M.1
-
61
-
-
0034599841
-
The function of plakophilin 1 in desmosome assembly and actin filament organization
-
Hatzfeld M, Haffner C, Schulze K, Vinzens U (2000). The function of plakophilin 1 in desmosome assembly and actin filament organization. J Cell Biol. 149 : 209-222.
-
(2000)
J Cell Biol.
, vol.149
, pp. 209-222
-
-
Hatzfeld, M.1
Haffner, C.2
Schulze, K.3
Vinzens, U.4
-
62
-
-
0028609366
-
Cell type-specific desmosomal plaque proteins of the plakoglobin family: Plakophilin 1 (band 6 protein)
-
Heid HW, Schmidt A, Zimbelmann R, Schafer S, Winter-Simanowski S, Stumpp S, Keith M, Figge U, Schnolzer M, Franke WW (1994). Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein). Differentiation. 58 : 113-131.
-
(1994)
Differentiation
, vol.58
, pp. 113-131
-
-
Heid, H.W.1
Schmidt, A.2
Zimbelmann, R.3
Schafer, S.4
Winter-Simanowski, S.5
Stumpp, S.6
Keith, M.7
Figge, U.8
Schnolzer, M.9
Franke, W.W.10
-
63
-
-
0029155863
-
Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster
-
Hennies HC, Hagedorn M, Reis A (1995). Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster. Genomics. 29 : 537-540.
-
(1995)
Genomics
, vol.29
, pp. 537-540
-
-
Hennies, H.C.1
Hagedorn, M.2
Reis, A.3
-
64
-
-
33845229562
-
Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy
-
Heuser A, Plovie ER, Ellinor PT, Grossmann KS, Shin JT, Wichter T, Basson CT, Lerman BB, Sasse-Klaassen S, Thierfelder L, Macrae CA, Gerull B (2006). Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 79 : 1081-1088.
-
(2006)
Am J Hum Genet.
, vol.79
, 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
-
65
-
-
79954588646
-
The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKCalpha signaling
-
Hobbs RP, Amargo EV, Somasundaram A, Simpson CL, Prakriya M, Denning MF, Green KJ (2011). The calcium ATPase SERCA2 regulates desmoplakin dynamics and intercellular adhesive strength through modulation of PKCalpha signaling. FASEB J. 25 : 990-1001.
-
(2011)
FASEB J.
, vol.25
, pp. 990-1001
-
-
Hobbs, R.P.1
Amargo, E.V.2
Somasundaram, A.3
Simpson, C.L.4
Prakriya, M.5
Denning, M.F.6
Green, K.J.7
-
66
-
-
0033868312
-
Interaction of plakophilins with desmoplakin and intermediate filament proteins: An in vitro analysis
-
Hofmann I, Mertens C, Brettel M, Nimmrich V, Schnolzer M, Herrmann H (2000). Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis. J Cell Sci. 113 : 2471-2483.
-
(2000)
J Cell Sci.
, vol.113
, pp. 2471-2483
-
-
Hofmann, I.1
Mertens, C.2
Brettel, M.3
Nimmrich, V.4
Schnolzer, M.5
Herrmann, H.6
-
68
-
-
0033986288
-
Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
-
J. R
-
Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH, J. R (2000). Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nature Genet. 24 : 61-65.
-
(2000)
Nature Genet.
, vol.24
, pp. 61-65
-
-
Hu, Z.1
Bonifas, J.M.2
Beech, J.3
Bench, G.4
Shigihara, T.5
Ogawa, H.6
Ikeda, S.7
Mauro, T.8
Epstein, E.H.9
-
69
-
-
0037164862
-
Intermediate filamentmembrane attachments function synergistically with actindependent contacts to regulate intercellular adhesive strength
-
Huen AC, Park JK, Godsel LM, Chen X, Bannon LJ, Amargo EV, Hudson TY, Mongiu AK, Leigh IM, Kelsell DP, Gumbiner BM, Green KJ (2002). Intermediate filamentmembrane attachments function synergistically with actindependent contacts to regulate intercellular adhesive strength. J Cell Biol. 159 : 1005-1017.
-
(2002)
J Cell Biol.
, vol.159
, pp. 1005-1017
-
-
Huen, A.C.1
Park, J.K.2
Godsel, L.M.3
Chen, X.4
Bannon, L.J.5
Amargo, E.V.6
Hudson, T.Y.7
Mongiu, A.K.8
Leigh, I.M.9
Kelsell, D.P.10
Gumbiner, B.M.11
Green, K.J.12
-
70
-
-
11144356265
-
The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
-
Jahoda CA, Kljuic A, O'shaughnessy R, Crossley N, Whitehouse CJ, Robinson M, Reynolds AJ, Demarchez M, Porter RM, Shapiro L, Christiano AM (2004). The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene. Genomics. 83 : 747-756.
-
(2004)
Genomics.
, vol.83
, pp. 747-756
-
-
Jahoda, C.A.1
Kljuic, A.2
O'Shaughnessy, R.3
Crossley, N.4
Whitehouse, C.J.5
Robinson, M.6
Reynolds, A.J.7
Demarchez, M.8
Porter, R.M.9
Shapiro, L.10
Christiano, A.M.11
-
71
-
-
25444463595
-
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
-
Jonkman MF, Pasmooij AM, Pasmans SG, Van Den Berg MP, Ter Horst HJ, Timmer A, Pas HH (2005). Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet. 77 : 653-660.
-
(2005)
Am J Hum Genet.
, vol.77
, pp. 653-660
-
-
Jonkman, M.F.1
Pasmooij, A.M.2
Pasmans, S.G.3
Van Den-Berg, M.P.4
Ter Horst, H.J.5
Timmer, A.6
Pas, H.H.7
-
72
-
-
0013865428
-
Fine structure of desmosomes., hemidesmosomes, and an adepidermal globular layer in developing newt epidermis
-
Kelly DE (1966). Fine structure of desmosomes., hemidesmosomes, and an adepidermal globular layer in developing newt epidermis. J Cell Biol. 28 : 51-72.
-
(1966)
J Cell Biol.
, vol.28
, pp. 51-72
-
-
Kelly, D.E.1
-
73
-
-
33947191090
-
Calcium-independent desmosomes of keratinocytes are hyper-adhesive
-
Kimura TE, Merritt AJ, Garrod DR (2007). Calcium-independent desmosomes of keratinocytes are hyper-adhesive. J Invest Dermatol. 127 : 775-781.
-
(2007)
J Invest Dermatol.
, vol.127
, pp. 775-781
-
-
Kimura, T.E.1
Merritt, A.J.2
Garrod, D.R.3
-
74
-
-
0029029819
-
The desmocollins of human foreskin epidermis: Identification and chromosomal assignment of a third gene and expression patterns of the three isoforms
-
King IA, Sullivan KH, Bennett R, Jr, Buxton RS (1995). The desmocollins of human foreskin epidermis: identification and chromosomal assignment of a third gene and expression patterns of the three isoforms. J Invest Dermatol. 105 : 314-21.
-
(1995)
J Invest Dermatol.
, vol.105
, pp. 314-321
-
-
King, I.A.1
Sullivan, K.H.2
Bennett Jr., R.3
Buxton, R.S.4
-
75
-
-
63049110385
-
EGFR and ADAMs cooperate to regulate shedding and endocytic trafficking of the desmosomal cadherin desmoglein 2
-
Klessner JL, Desai BV, Amargo EV, Getsios S, Green KJ (2009). EGFR and ADAMs cooperate to regulate shedding and endocytic trafficking of the desmosomal cadherin desmoglein 2. Mol Biol Cell. 20 : 328-337.
-
(2009)
Mol Biol Cell.
, vol.20
, pp. 328-337
-
-
Klessner, J.L.1
Desai, B.V.2
Amargo, E.V.3
Getsios, S.4
Green, K.J.5
-
76
-
-
0037453717
-
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: Evidence from inherited hypotrichosis and acquired pemphigus vulgaris
-
Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM (2003a). Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 113 : 249-260.
-
(2003)
Cell
, vol.113
, 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.17
Morris, R.J.18
Panteleyev, A.A.19
Nguyen, V.T.20
Christiano, A.M.21
more..
-
77
-
-
0003205553
-
A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma
-
Kljuic A, Gilead L, Martinez-Mir A, Frank J, Christiano AM, Zlotogorski A (2003b). A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol. 12 : 523-527.
-
(2003)
Exp Dermatol.
, vol.12
, pp. 523-527
-
-
Kljuic, A.1
Gilead, L.2
Martinez-Mir, A.3
Frank, J.4
Christiano, A.M.5
Zlotogorski, A.6
-
78
-
-
2442715042
-
Genomic organization of mouse desmocollin genes reveals evolutionary conservation
-
Kljuic A, Bauer RC, Christiano AM (2004). Genomic organization of mouse desmocollin genes reveals evolutionary conservation. DNA Seq. 15 : 148-152.
-
(2004)
DNA Seq.
, vol.15
, pp. 148-152
-
-
Kljuic, A.1
Bauer, R.C.2
Christiano, A.M.3
-
79
-
-
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
-
Koch PJ, Mahoney MG, Ishikawa H, Pulkkinen L, Uitto J, Shultz L, Murphy GF, Whitaker-Menezes D, Stanley JR (1997). 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. 137 : 1091-1102.
-
(1997)
J Cell Biol.
, vol.137
, 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
-
80
-
-
33645215992
-
The desmosome: Cell science lessons from human diseases
-
Kottke MD, Delva E, Kowalczyk AP (2006). The desmosome: cell science lessons from human diseases. J Cell Sci. 119 : 797-806.
-
(2006)
J Cell Sci.
, vol.119
, pp. 797-806
-
-
Kottke, M.D.1
Delva, E.2
Kowalczyk, A.P.3
-
81
-
-
0033603436
-
The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes
-
Kowalczyk AP, Hatzfeld M, Bornslaeger EA, Kopp DS, Borgwardt JE, Corcoran CM, Settler A, Green KJ (1999). The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes. Implications for cutaneous disease. J Biol Chem. 274 : 18145-18148.
-
(1999)
Implications for Cutaneous Disease. J Biol Chem.
, vol.274
, pp. 18145-18148
-
-
Kowalczyk, A.P.1
Hatzfeld, M.2
Bornslaeger, E.A.3
Kopp, D.S.4
Borgwardt, J.E.5
Corcoran, C.M.6
Settler, A.7
Green, K.J.8
-
82
-
-
0028346692
-
Structure and function of desmosomal transmembrane core and plaque molecules
-
Kowalczyk AP, Stappenbeck TS, Parry DA, Palka HL, Virata ML, Bornslaeger EA, Nilles LA, Green KJ (1994). Structure and function of desmosomal transmembrane core and plaque molecules. Biophys Chem. 50 : 97-112.
-
(1994)
Biophys Chem.
, vol.50
, pp. 97-112
-
-
Kowalczyk, A.P.1
Stappenbeck, T.S.2
Parry, D.A.3
Palka, H.L.4
Virata, M.L.5
Bornslaeger, E.A.6
Nilles, L.A.7
Green, K.J.8
-
83
-
-
0028284410
-
The bovine desmocollin family: A new gene and expression patterns reflecting epithelial cell proliferation and differentiation
-
Legan PK, Yue KK, Chidgey MA, Holton JL, Wilkinson RW, Garrod DR (1994). The bovine desmocollin family: a new gene and expression patterns reflecting epithelial cell proliferation and differentiation. J Cell Biol. 126 : 507-518.
-
(1994)
J Cell Biol.
, vol.126
, pp. 507-518
-
-
Legan, P.K.1
Yue, K.K.2
Chidgey, M.A.3
Holton, J.L.4
Wilkinson, R.W.5
Garrod, D.R.6
-
84
-
-
84858951977
-
Lack of plakoglobin in epidermis leads to keratoderma
-
Li D, Zhang W, Liu Y, Haneline LS, Shou W (2012). Lack of Plakoglobin in Epidermis Leads to Keratoderma. J Biol Chem. 287 : 10435-10443.
-
(2012)
J Biol Chem.
, vol.287
, pp. 10435-10443
-
-
Li, D.1
Zhang, W.2
Liu, Y.3
Haneline, L.S.4
Shou, W.5
-
85
-
-
84862755022
-
A new perspective on intercalated disc organization: Implications for heart disease
-
Li J, Radice GL (2010). A new perspective on intercalated disc organization: implications for heart disease. Dermatol Res Pract. 2010 : 207835.
-
(2010)
Dermatol Res Pract.
, vol.2010
, pp. 207835
-
-
Li, J.1
Radice, G.L.2
-
86
-
-
84871789319
-
Involvement of the ubiquitin-proteasome system in the stabilization of cell-cell contacts in human keratinocytes
-
Loffek S, Bruckner-Tuderman L, Magin TM (2012). Involvement of the ubiquitin-proteasome system in the stabilization of cell-cell contacts in human keratinocytes. Exp Dermatol. 21 : 791-793.
-
(2012)
Exp Dermatol.
, vol.21
, pp. 791-793
-
-
Loffek, S.1
Bruckner-Tuderman, L.2
Magin, T.M.3
-
87
-
-
4344680669
-
Epidermal growth factor receptor inhibition promotes desmosome assembly and strengthens intercellular adhesion in squamous cell carcinoma cells
-
Lorch JH, Klessner J, Park JK, Getsios S, Wu YL, Stack MS, Green KJ (2004). Epidermal growth factor receptor inhibition promotes desmosome assembly and strengthens intercellular adhesion in squamous cell carcinoma cells. J Biol Chem. 279 : 37191-37200.
-
(2004)
J Biol Chem.
, vol.279
, pp. 37191-37200
-
-
Lorch, J.H.1
Klessner, J.2
Park, J.K.3
Getsios, S.4
Wu, Y.L.5
Stack, M.S.6
Green, K.J.7
-
88
-
-
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 (1997). Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet. 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
-
89
-
-
84862909285
-
IRhom2 regulation of TACE controls TNF-mediated protection against listeria and responses to LPS
-
McIlwain DR, Lang PA, Maretzky T, Hamada K, Ohishi K, Maney SK, Berger T, Murthy A, Duncan G, Xu HC, Lang KS, Haussinger D, Wakeham A, Itie-Youten A, Khokha R, Ohashi PS, Blobel CP, Mak TW (2012). iRhom2 Regulation of TACE Controls TNF-Mediated Protection Against Listeria and Responses to LPS. Science. 335 : 229-232.
-
(2012)
Science
, vol.335
, pp. 229-232
-
-
McIlwain, D.R.1
Lang, P.A.2
Maretzky, T.3
Hamada, K.4
Ohishi, K.5
Maney, S.K.6
Berger, T.7
Murthy, A.8
Duncan, G.9
Xu, H.C.10
Lang, K.S.11
Haussinger, D.12
Wakeham, A.13
Itie-Youten, A.14
Khokha, R.15
Ohashi, P.S.16
Blobel, C.P.17
Mak, T.W.18
-
90
-
-
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 (2000). Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 355 : 2119-2124.
-
(2000)
Lancet
, vol.355
, 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
-
91
-
-
0029825414
-
Plakophilins 2a and 2b: Constitutive proteins of dual location in the karyoplasm and the desmosomal plaque
-
Mertens C, Kuhn C, Franke WW (1996). Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque. J Cell Biol. 135 : 1009-1025.
-
(1996)
J Cell Biol.
, vol.135
, pp. 1009-1025
-
-
Mertens, C.1
Kuhn, C.2
Franke, W.W.3
-
92
-
-
0032970165
-
Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues
-
Mertens C, Kuhn C, Moll R, Schwetlick I, Franke WW (1999). Desmosomal plakophilin 2 as a differentiation marker in normal and malignant tissues. Differentiation. 64 : 277-290.
-
(1999)
Differentiation.
, vol.64
, pp. 277-290
-
-
Mertens, C.1
Kuhn, C.2
Moll, R.3
Schwetlick, I.4
Franke, W.W.5
-
93
-
-
33747367737
-
2+ -ATPase mutants associated with Darier disease
-
2+ -ATPase mutants associated with Darier disease. J Biol Chem. 281 : 22882-22895.
-
(2006)
J Biol Chem.
, vol.281
, pp. 22882-22895
-
-
Miyauchi, Y.1
Daiho, T.2
Yamasaki, K.3
Takahashi, H.4
Ishida-Yamamoto, A.5
Danko, S.6
Suzuki, H.7
Iizuka, H.8
-
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 (2000). Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 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
-
-
33745190262
-
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin
-
Norgett EE, Lucke TW, Bowers B, Munro CS, Leigh IM, Kelsell DP (2006). Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol. 126 : 1651-1654.
-
(2006)
J Invest Dermatol.
, vol.126
, pp. 1651-1654
-
-
Norgett, E.E.1
Lucke, T.W.2
Bowers, B.3
Munro, C.S.4
Leigh, I.M.5
Kelsell, D.P.6
-
97
-
-
23244443601
-
Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy
-
Norman M (2005). Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation. 112 : 636-642.
-
(2005)
Circulation
, vol.112
, pp. 636-642
-
-
Norman, M.1
-
98
-
-
0029798055
-
Distinct desmocollin isoforms occur in the same desmosomes and show reciprocally graded distributions in bovine nasal epidermis
-
North AJ, Chidgey MA, Clarke JP, Bardsley WG, Garrod DR (1996). Distinct desmocollin isoforms occur in the same desmosomes and show reciprocally graded distributions in bovine nasal epidermis. Proc Natl Acad Sci USA. 93 : 7701-7705.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 7701-7705
-
-
North, A.J.1
Chidgey, M.A.2
Clarke, J.P.3
Bardsley, W.G.4
Garrod, D.R.5
-
99
-
-
33749500948
-
2+ ATPase 2 gene silencing promotes cell survival: A potential role for TRPC1 in Darier's disease
-
2+ ATPase 2 gene silencing promotes cell survival: a potential role for TRPC1 in Darier's disease. Mol Biol Cell. 17 : 4446-4458.
-
(2006)
Mol Biol Cell.
, vol.17
, pp. 4446-4458
-
-
Pani, B.1
Cornatzer, E.2
Cornatzer, W.3
Shin, D.M.4
Pittelkow, M.R.5
Hovnanian, A.6
Ambudkar, I.S.7
Singh, B.B.8
-
100
-
-
0032515018
-
An essential role for ectodomain shedding in mammalian development
-
Peschon JJ, Slack JL, Reddy P, Stocking KL, Sunnarborg SW, Lee DC, Russell WE, Castner BJ, Johnson RS, Fitzner JN, Boyce RW, Nelson N, Kozlosky CJ, Wolfson MF, Rauch CT, Cerretti DP, Paxton RJ, March CJ, Black RA (1998). An essential role for ectodomain shedding in mammalian development. Science. 282 : 1281-1284.
-
(1998)
Science
, vol.282
, pp. 1281-1284
-
-
Peschon, J.J.1
Slack, J.L.2
Reddy, P.3
Stocking, K.L.4
Sunnarborg, S.W.5
Lee, D.C.6
Russell, W.E.7
Castner, B.J.8
Johnson, R.S.9
Fitzner, J.N.10
Boyce, R.W.11
Nelson, N.12
Kozlosky, C.J.13
Wolfson, M.F.14
Rauch, C.T.15
Cerretti, D.P.16
Paxton, R.J.17
March, C.J.18
Black, R.A.19
-
101
-
-
82755194453
-
Desmosomal molecules in and out of adhering junctions: Normal and diseased States of epidermal, cardiac and mesenchymally derived cells
-
Pieperhoff S, Barth M, Rickelt S, Franke WW (2010). Desmosomal molecules in and out of adhering junctions: normal and diseased States of epidermal, cardiac and mesenchymally derived cells. Dermatol Res Pract. 2010 : 139167.
-
(2010)
Dermatol Res Pract.
, vol.2010
, pp. 139167
-
-
Pieperhoff, S.1
Barth, M.2
Rickelt, S.3
Franke, W.W.4
-
102
-
-
79954558531
-
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: A novel clinico-genetic entity
-
Pigors M, Kiritsi D, Krumpelmann S, Wagner N, He Y, Podda M, Kohlhase J, Hausser I, Bruckner-Tuderman L, Has C (2011). Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. Hum Mol Genet. 20 : 1811-1819.
-
(2011)
Hum Mol Genet.
, vol.20
, pp. 1811-1819
-
-
Pigors, M.1
Kiritsi, D.2
Krumpelmann, S.3
Wagner, N.4
He, Y.5
Podda, M.6
Kohlhase, J.7
Hausser, I.8
Bruckner-Tuderman, L.9
Has, C.10
-
103
-
-
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, Thiene G, Danieli GA, Rampazzo A (2006). Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation. 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
Thiene, G.11
Danieli, G.A.12
Rampazzo, A.13
-
104
-
-
35548932457
-
Structure and mechanism of cadherins and catenins in cell-cell contacts
-
Pokutta S, Weis WI (2007). Structure and mechanism of cadherins and catenins in cell-cell contacts. Annu Rev Cell Dev Biol. 23 : 237-261.
-
(2007)
Annu Rev Cell Dev Biol.
, vol.23
, pp. 237-261
-
-
Pokutta, S.1
Weis, W.I.2
-
105
-
-
2942726109
-
Naxos disease and Carvajal syndrome: Cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy
-
Protonotarios N, Tsatsopoulou A (2004). Naxos disease and Carvajal syndrome: cardiocutaneous disorders that highlight the pathogenesis and broaden the spectrum of arrhythmogenic right ventricular cardiomyopathy. Cardiovasc Pathol. 13 : 185-194.
-
(2004)
Cardiovasc Pathol.
, vol.13
, pp. 185-194
-
-
Protonotarios, N.1
Tsatsopoulou, A.2
-
106
-
-
63649105591
-
The good, the bad and the ugly substrates for ADAM10 and ADAM17 in brain pathology, inflammation and cancer
-
Pruessmeyer J, Ludwig A (2009). The good, the bad and the ugly substrates for ADAM10 and ADAM17 in brain pathology, inflammation and cancer. Semin Cell Dev Biol. 20 : 164-174.
-
(2009)
Semin Cell Dev Biol.
, vol.20
, pp. 164-174
-
-
Pruessmeyer, J.1
Ludwig, A.2
-
107
-
-
18644363134
-
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
-
Rampazzo A, Nava A, Malacrida S, Beffagna G, Bauce B, Rossi V, Zimbello R, Simionati B, Basso C, Thiene G, Towbin JA, Danieli GA (2002). Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J of Hum Genet. 71 : 1200-1206.
-
(2002)
Am J of Hum Genet.
, vol.71
, 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
-
108
-
-
0032970153
-
N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
-
Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI, Kelsell DP, Buxton RS (1999). N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet. 8 : 971-976.
-
(1999)
Hum Mol Genet.
, vol.8
, 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.7
Leigh, I.M.8
Arnemann, J.9
Magee, A.I.10
Kelsell, D.P.11
Buxton, R.S.12
-
109
-
-
10144229330
-
Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart
-
Ruiz P, Brinkmann V, Ledermann B, Behrend M, Grund C, Thalhammer C, Vogel F, Birchmeier C, Gunthert U, Franke WW, Birchmeier W (1996). Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J Cell Biol. 135 : 215-225.
-
(1996)
J Cell Biol.
, vol.135
, pp. 215-225
-
-
Ruiz, P.1
Brinkmann, V.2
Ledermann, B.3
Behrend, M.4
Grund, C.5
Thalhammer, C.6
Vogel, F.7
Birchmeier, C.8
Gunthert, U.9
Franke, W.W.10
Birchmeier, W.11
-
110
-
-
0034848406
-
Desmosomal adhesion regulates epithelial morphogenesis and cell positioning
-
Runswick SK, O'hare MJ, Jones L, Streuli CH, Garrod DR (2001). Desmosomal adhesion regulates epithelial morphogenesis and cell positioning. Nat Cell Biol. 3 : 823-830.
-
(2001)
Nat Cell Biol.
, vol.3
, pp. 823-830
-
-
Runswick, S.K.1
O'Hare, M.J.2
Jones, L.3
Streuli, C.H.4
Garrod, D.R.5
-
111
-
-
84864281934
-
Analysis of a finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer
-
Saarinen S, Vahteristo P, Lehtonen R, Aittomäki K, Launonen V, Kiviluoto T, Aaltonen L (2012). Analysis of a finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. Fam Cancer. 11 : 525-528.
-
(2012)
Fam Cancer.
, vol.11
, pp. 525-528
-
-
Saarinen, S.1
Vahteristo, P.2
Lehtonen, R.3
Aittomäki, K.4
Launonen, V.5
Kiviluoto, T.6
Aaltonen, L.7
-
112
-
-
1442358746
-
Distinct roles for ADAM10 and ADAM17 in ectodomain shedding of six EGFR ligands
-
Sahin U, Weskamp G, Kelly K, Zhou HM, Higashiyama S, Peschon J, Hartmann D, Saftig P, Blobel CP (2004). Distinct roles for ADAM10 and ADAM17 in ectodomain shedding of six EGFR ligands. J Cell Biol. 164 : 769-779.
-
(2004)
J Cell Biol.
, vol.164
, pp. 769-779
-
-
Sahin, U.1
Weskamp, G.2
Kelly, K.3
Zhou, H.M.4
Higashiyama, S.5
Peschon, J.6
Hartmann, D.7
Saftig, P.8
Blobel, C.P.9
-
113
-
-
0032978357
-
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
-
Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O'donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, Strachan T, Hovnanian A (1999). Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet. 21 : 271-277.
-
(1999)
Nat Genet.
, vol.21
, pp. 271-277
-
-
Sakuntabhai, A.1
Ruiz-Perez, V.2
Carter, S.3
Jacobsen, N.4
Burge, S.5
Monk, S.6
Smith, M.7
Munro, C.S.8
O'Donovan, M.9
Craddock, N.10
Kucherlapati, R.11
Rees, J.L.12
Owen, M.13
Lathrop, G.M.14
Monaco, A.P.15
Strachan, T.16
Hovnanian, A.17
-
114
-
-
84885019283
-
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
-
Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, Mclean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E (2013). Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet. 45 : 1244-1248.
-
(2013)
Nat Genet.
, vol.45
, pp. 1244-1248
-
-
Samuelov, L.1
Sarig, O.2
Harmon, R.M.3
Rapaport, D.4
Ishida-Yamamoto, A.5
Isakov, O.6
Koetsier, J.L.7
Gat, A.8
Goldberg, I.9
Bergman, R.10
Spiegel, R.11
Eytan, O.12
Geller, S.13
Peleg, S.14
Shomron, N.15
Goh, C.S.M.16
Wilson, N.J.17
Smith, F.J.D.18
Pohler, E.19
Simpson, M.A.20
McLean, W.H.I.21
Irvine, A.D.22
Horowitz, M.23
McGrath, J.A.24
Green, K.J.25
Sprecher, E.26
more..
-
115
-
-
84902549600
-
SERCA2 Dysfunction in Darier disease causes endoplasmic reticulum stress and impaired cell-to-cell adhesion strength: Rescue by Miglustat
-
Epub ahead of print. doi:. 10.1038/jid.2014.8
-
Savignac M, Simon M, Edir A, Guibbal L, Hovnanian A (2014). SERCA2 Dysfunction in Darier disease causes endoplasmic reticulum stress and impaired cell-to-cell adhesion strength: rescue by Miglustat. J Invest Dermatol. Epub ahead of print. doi:. 10.1038/jid.2014.8.
-
(2014)
J Invest Dermatol.
-
-
Savignac, M.1
Simon, M.2
Edir, A.3
Guibbal, L.4
Hovnanian, A.5
-
116
-
-
0030010392
-
Immunological identification and characterization of the desmosomal cadherin Dsg2 in coupled and uncoupled epithelial cells and in human tissues
-
Schafer S, Stumpp S, Franke WW (1996). Immunological identification and characterization of the desmosomal cadherin Dsg2 in coupled and uncoupled epithelial cells and in human tissues. Differentiation. 60 : 99-108.
-
(1996)
Differentiation.
, vol.60
, pp. 99-108
-
-
Schafer, S.1
Stumpp, S.2
Franke, W.W.3
-
117
-
-
33745551443
-
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions
-
Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM (2006). Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. J Invest Dermatol. 126 : 1286-1291.
-
(2006)
J Invest Dermatol.
, vol.126
, pp. 1286-1291
-
-
Schaffer, J.V.1
Bazzi, H.2
Vitebsky, A.3
Witkiewicz, A.4
Kovich, O.I.5
Kamino, H.6
Shapiro, L.S.7
Amin, S.P.8
Orlow, S.J.9
Christiano, A.M.10
-
118
-
-
0030856140
-
Plakophilins 1a and 1b: Widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components
-
Schmidt A, Langbein L, Rode M, Pratzel S, Zimbelmann R, Franke WW (1997). Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. Cell Tissue Res. 290: 481-499.
-
(1997)
Cell Tissue Res.
, vol.290
, pp. 481-499
-
-
Schmidt, A.1
Langbein, L.2
Rode, M.3
Pratzel, S.4
Zimbelmann, R.5
Franke, W.W.6
-
119
-
-
0029157652
-
Pemphigus vulgaris and pemphigus foliaceus sera show an inversely graded binding pattern to extracellular regions of desmosomes in different layers of human epidermis
-
Shimizu H, Masunaga T, Ishiko A, Kikuchi A, Hashimoto T, Nishikawa T (1995). Pemphigus vulgaris and pemphigus foliaceus sera show an inversely graded binding pattern to extracellular regions of desmosomes in different layers of human epidermis. J Invest Dermatol. 105 : 153-159.
-
(1995)
J Invest Dermatol.
, vol.105
, pp. 153-159
-
-
Shimizu, H.1
Masunaga, T.2
Ishiko, A.3
Kikuchi, A.4
Hashimoto, T.5
Nishikawa, T.6
-
120
-
-
33745569010
-
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis
-
Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M (2006). Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. J Invest Dermatol. 126 : 1281-1285.
-
(2006)
J Invest Dermatol.
, vol.126
, pp. 1281-1285
-
-
Shimomura, Y.1
Sakamoto, F.2
Kariya, N.3
Matsunaga, K.4
Ito, M.5
-
121
-
-
54849404191
-
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair
-
Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, Mckenna WJ, Behr ER, Crosby AH (2009). Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology. 113 : 28-34.
-
(2009)
Cardiology.
, vol.113
, pp. 28-34
-
-
Simpson, M.A.1
Mansour, S.2
Ahnood, D.3
Kalidas, K.4
Patton, M.A.5
McKenna, W.J.6
Behr, E.R.7
Crosby, A.H.8
-
122
-
-
43749116674
-
Plakophilin-3-deficient mice develop hair coat abnormalities and are prone to cutaneous inflammation
-
Sklyarova T, Bonne S, D'hooge P, Denecker G, Goossens S, De Rycke R., Borgonie G, Bosl M, Van Roy F, Van Hengel J (2008). Plakophilin-3-deficient mice develop hair coat abnormalities and are prone to cutaneous inflammation. J Invest Dermatol. 128 : 1375-1385.
-
(2008)
J Invest Dermatol.
, vol.128
, pp. 1375-1385
-
-
Sklyarova, T.1
Bonne, S.2
D'Hooge, P.3
Denecker, G.4
Goossens, S.5
De Rycke, R.6
Borgonie, G.7
Bosl, M.8
Van Roy, F.9
Van Hengel, J.10
-
123
-
-
0016140812
-
Structure and function of intercellular junctions
-
Staehelin LA (1974). Structure and function of intercellular junctions. Int Rev Cytol. 39 : 191-283.
-
(1974)
Int Rev Cytol.
, vol.39
, pp. 191-283
-
-
Staehelin, L.A.1
-
124
-
-
84900409352
-
Desmosome assembly and disassembly are membrane raft-dependent
-
Stahley SN, Saito M, Faundez V, Koval M, Mattheyses AL, Kowalczyk AP (2014). Desmosome assembly and disassembly are membrane raft-dependent. PLoS One. 9 : e87809.
-
(2014)
PLoS One.
, vol.9
-
-
Stahley, S.N.1
Saito, M.2
Faundez, V.3
Koval, M.4
Mattheyses, A.L.5
Kowalczyk, A.P.6
-
125
-
-
0029988982
-
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas
-
Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, Marger D, Marger RS, Leigh IM (1996). Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol. 132 : 640-651.
-
(1996)
Arch Dermatol.
, vol.132
, pp. 640-651
-
-
Stevens, H.P.1
Kelsell, D.P.2
Bryant, S.P.3
Bishop, D.T.4
Spurr, N.K.5
Weissenbach, J.6
Marger, D.7
Marger, R.S.8
Leigh, I.M.9
-
126
-
-
34249657898
-
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: A genotype-phenotype characterization of familial disease
-
Syrris P, Ward D, Asimaki A, Evans A, Sen-Chowdhry S, Hughes SE, Mckenna WJ (2007). Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. Eur Heart J. 28 : 581-588.
-
(2007)
Eur Heart J.
, vol.28
, 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
-
127
-
-
33751073197
-
Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2
-
Syrris P, Ward D, Evans A, Asimaki A, Gandjbakhch E, Sen-Chowdhry S, Mckenna WJ (2006). Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am J Hum Genet. 79 : 978-984.
-
(2006)
Am J Hum Genet.
, vol.79
, 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
-
128
-
-
0025325167
-
Cadherins: A molecular family important in selective cell-cell adhesion
-
Takeichi M (1990). Cadherins: a molecular family important in selective cell-cell adhesion. Annu Rev Biochem. 59: 237-252.
-
(1990)
Annu Rev Biochem.
, vol.59
, pp. 237-252
-
-
Takeichi, M.1
-
129
-
-
60449095643
-
Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families
-
Tanaka A, Lai-Cheong JE, Cafe ME, Gontijo B, Salomao PR, Pereira L, McGrath JA (2009). Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. Br J Dermatol. 160 : 692-697.
-
(2009)
Br J Dermatol.
, vol.160
, pp. 692-697
-
-
Tanaka, A.1
Lai-Cheong, J.E.2
Cafe, M.E.3
Gontijo, B.4
Salomao, P.R.5
Pereira, L.6
McGrath, J.A.7
-
130
-
-
0024560439
-
Thapsigargin, a novel molecular probe for studying intracellular calcium release and storage
-
Thastrup O, Dawson AP, Scharff O, Foder B, Cullen PJ, Drobak BK, Bjerrum PJ, Christensen SB, Hanley MR (1989). Thapsigargin, a novel molecular probe for studying intracellular calcium release and storage. Agents Actions. 27 : 17-23.
-
(1989)
Agents Actions.
, vol.27
, pp. 17-23
-
-
Thastrup, O.1
Dawson, A.P.2
Scharff, O.3
Foder, B.4
Cullen, P.J.5
Drobak, B.K.6
Bjerrum, P.J.7
Christensen, S.B.8
Hanley, M.R.9
-
132
-
-
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, Yuksel-Apak M, Kelsell DP, Wollnik B (2006). Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet. 43 : e05.
-
(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
Yuksel-Apak, M.11
Kelsell, D.P.12
Wollnik, B.13
-
133
-
-
0035199158
-
Desmoplakin is essential in epidermal sheet formation
-
Vasioukhin V, Bowers E, Bauer C, Degenstein L, Fuchs E (2001). Desmoplakin is essential in epidermal sheet formation. Nat Cell Biol. 3 : 1076-1085.
-
(2001)
Nat Cell Biol.
, vol.3
, pp. 1076-1085
-
-
Vasioukhin, V.1
Bowers, E.2
Bauer, C.3
Degenstein, L.4
Fuchs, E.5
-
134
-
-
26444498679
-
A role for plakophilin-1 in the initiation of desmosome assembly
-
Wahl JK, III (2005). A role for plakophilin-1 in the initiation of desmosome assembly. J Cell Biochem. 96 : 390-403.
-
(2005)
J Cell Biochem.
, vol.96
, pp. 390-403
-
-
Wahl III, J.K.1
-
135
-
-
0021717130
-
Calciuminduced reorganization of desmosomal components in cultured human keratinocytes
-
Watt FM, Mattey DL, Garrod DR (1984). Calciuminduced reorganization of desmosomal components in cultured human keratinocytes. J Cell Biol. 99 : 2211-2215.
-
(1984)
J Cell Biol.
, vol.99
, pp. 2211-2215
-
-
Watt, F.M.1
Mattey, D.L.2
Garrod, D.R.3
-
136
-
-
0033401667
-
Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency
-
Whittock NV, Ashton GH, Dopping-Hepenstal PJ, Gratian MJ, Keane FM, Eady RA, McGrath JA (1999). Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol. 113 : 940-946.
-
(1999)
J Invest Dermatol.
, vol.113
, pp. 940-946
-
-
Whittock, N.V.1
Ashton, G.H.2
Dopping-Hepenstal, P.J.3
Gratian, M.J.4
Keane, F.M.5
Eady, R.A.6
McGrath, J.A.7
-
137
-
-
0036178690
-
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
-
Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, Mclean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA (2002). Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol. 118 : 232-238.
-
(2002)
J Invest Dermatol.
, vol.118
, 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.7
Pulkkinen, L.8
Uitto, J.9
Christiano, A.M.10
Eady, R.A.11
McGrath, J.A.12
-
138
-
-
17244371252
-
Plakoglobin suppresses keratinocyte motility through both cell-cell adhesiondependent and -independent mechanisms
-
Yin T, Getsios S, Caldelari R, Kowalczyk AP, Muller EJ, Jones JCR, Green KJ (2005). Plakoglobin suppresses keratinocyte motility through both cell-cell adhesiondependent and -independent mechanisms. Proc Natl Acad Sci U S A. 102 : 5420-5425.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 5420-5425
-
-
Yin, T.1
Getsios, S.2
Caldelari, R.3
Kowalczyk, A.P.4
Muller, E.J.5
Jones, J.C.R.6
Green, K.J.7
-
139
-
-
9244238200
-
Regulation of desmosome assembly and adhesion
-
Yin T, Green KJ (2004). Regulation of desmosome assembly and adhesion. Semin Cell Dev Biol. 15 : 665-677.
-
(2004)
Semin Cell Dev Biol.
, vol.15
, pp. 665-677
-
-
Yin, T.1
Green, K.J.2
-
140
-
-
33846548110
-
ER stress and diseases
-
Yoshida H (2007). ER stress and diseases. FEBS J. 274: 630-658.
-
(2007)
FEBS J.
, vol.274
, pp. 630-658
-
-
Yoshida, H.1
-
141
-
-
25144445920
-
Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome
-
Zheng R, Bu DF, Zhu XJ (2005). Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol. 85 : 394-399.
-
(2005)
Acta Derm Venereol.
, vol.85
, pp. 394-399
-
-
Zheng, R.1
Bu, D.F.2
Zhu, X.J.3
-
142
-
-
33745547060
-
An autosomal recessive form of monilethrix is caused by mutations in DSG4: Clinical overlap with localized autosomal recessive hypotrichosis
-
Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E (2006). An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol. 126 : 1292-1296.
-
(2006)
J Invest Dermatol.
, vol.126
, pp. 1292-1296
-
-
Zlotogorski, A.1
Marek, D.2
Horev, L.3
Abu, A.4
Ben-Amitai, D.5
Gerad, L.6
Ingber, A.7
Frydman, M.8
Reznik-Wolf, H.9
Vardy, D.A.10
Pras, E.11
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