-
1
-
-
28144444402
-
GJB2 mutations and degree of hearing loss: A multicenter study
-
DOI 10.1086/497996
-
Snoeckx R. L., Huygen P. L. M., Feldmann D., Marlin S., Denoyelle F., Waligora J., Mueller-Malesinska M., Pollak A., Ploski R., Murgia A., Orzan E., Castorina P., Ambrosetti U., Nowakowska-Szyrwinska E., Bal J., Wiszniewski W., Janecke A. R., Nekahm-Heis D., Seeman P., Bendova O., Kenna M. A., Frangulov A., Rehm H. L., Tekin M., Incesulu A., Dahl H.-H. M., Du Sart D., Jenkins L., Lucas D., Bitner-Glindzicz M., Avraham K. B., Brownstein Z., del Castillo I., Moreno F., Blin N., Pfister M., Sziklai I., Toth T., Kelley P. M., Cohn E. S., Van Maldergem L., Hilbert P., Roux A.-F., Mondain M., Hoefsloot L. H., Cremers C. W. R. J., Löppönen T., Löppönen H., Parving A., Gronskov K., Schrijver I., Roberson J., Gualandi F., Martini A., Lina-Granade G., Pallares-Ruiz N., Correia C., Fialho G., Cryns K., Hilgert N., van de Heyning P., Nishimura C. J., Smith R. J. H., Van Camp G., GJB2 mutations and degree of hearing loss: a multicenter study. American Journal of Human Genetics 2005 77 6 945 957 2-s2.0-28144444402 10.1086/497996 (Pubitemid 41698516)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.6
, pp. 945-957
-
-
Snoeckx, R.L.1
Huygen, P.L.M.2
Feldmann, D.3
Marlin, S.4
Denoyelle, F.5
Waligora, J.6
Mueller-Malesinska, M.7
Pollak, A.8
Ploski, R.9
Murgia, A.10
Orzan, E.11
Castorina, P.12
Ambrosetti, U.13
Nowakowska-Szyrwinska, E.14
Bal, J.15
Wiszniewski, W.16
Janecke, A.R.17
Nekahm-Heis, D.18
Seeman, P.19
Bendova, O.20
Kenna, M.A.21
Frangulov, A.22
Rehm, H.L.23
Tekin, M.24
Incesulu, A.25
Dahl, H.-H.M.26
Du Sart, D.27
Jenkins, L.28
Lucas, D.29
Bitner-Glindzicz, M.30
Avraham, K.B.31
Brownstein, Z.32
Del Castillo, I.33
Moreno, F.34
Blin, N.35
Pfister, M.36
Sziklai, I.37
Toth, T.38
Kelley, P.M.39
Cohn, E.S.40
Van Maldergem, L.41
Hilbert, P.42
Roux, A.-F.43
Mondain, M.44
Hoefsloot, L.H.45
Cremers, C.W.R.J.46
Lopponen, T.47
Lopponen, H.48
Parving, A.49
Gronskov, K.50
Schrijver, I.51
Roberson, J.52
Gualandi, F.53
Martini, A.54
Lina-Granade, G.55
Pallares-Ruiz, N.56
Correia, C.57
Fialho, G.58
Cryns, K.59
Hilgert, N.60
Van De Heyning, P.61
Nishimura, C.J.62
Smith, R.J.H.63
Van Camp, G.64
more..
-
2
-
-
33750603199
-
DNA sequence analysis of GJB2, encoding connexin 26: Observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls
-
DOI 10.1002/ajmg.a.31525
-
Tang H.-Y., Fang P., Ward P. A., Schmitt E., Darilek S., Manolidis S., Oghalai J. S., Roa B. B., Alford R. L., DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. American Journal of Medical Genetics A 2006 140 22 2401 2415 2-s2.0-33750603199 10.1002/ajmg.a.31525 (Pubitemid 44684935)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.22
, pp. 2401-2415
-
-
Tang, H.-Y.1
Fang, P.2
Ward, P.A.3
Schmitt, E.4
Darilek, S.5
Manolidis, S.6
Oghalai, J.S.7
Roa, B.B.8
Alford, R.L.9
-
3
-
-
84883526617
-
Insights into the role of cell-cell junctions in physiology and disease
-
Wei Q., Huang H., Insights into the role of cell-cell junctions in physiology and disease. International Review of Cell and Molecular Biology 2013 306 187 221
-
(2013)
International Review of Cell and Molecular Biology
, vol.306
, pp. 187-221
-
-
Wei, Q.1
Huang, H.2
-
4
-
-
59349118706
-
Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?
-
2-s2.0-59349118706 10.1016/j.mrrev.2008.08.002
-
Hilgert N., Smith R. J. H., van Camp G., Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutation Research 2009 681 2-3 189 196 2-s2.0-59349118706 10.1016/j.mrrev.2008.08.002
-
(2009)
Mutation Research
, vol.681
, Issue.2-3
, pp. 189-196
-
-
Hilgert, N.1
Smith, R.J.H.2
Van Camp, G.3
-
5
-
-
79959607591
-
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment
-
2-s2.0-79959607591 10.2741/3910
-
del Castillo F. J., del Castillo I., The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment. Frontiers in Bioscience 2011 16 8 3252 3274 2-s2.0-79959607591 10.2741/3910
-
(2011)
Frontiers in Bioscience
, vol.16
, Issue.8
, pp. 3252-3274
-
-
Del Castillo, F.J.1
Del Castillo, I.2
-
6
-
-
84864038610
-
Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss
-
10.1017/S0022215112001119
-
Battelino S., Repič Lampret B., Zargi M., Podkrajšek K. T., Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss. The Journal of Laryngology & Otology 2012 126 8 763 769 10.1017/S0022215112001119
-
(2012)
The Journal of Laryngology & Otology
, vol.126
, Issue.8
, pp. 763-769
-
-
Battelino, S.1
Repič Lampret, B.2
Zargi, M.3
Podkrajšek, K.T.4
-
7
-
-
77950095765
-
GJB2 and GJB6 genes: Molecular study and identification of novel GJB2 mutations in the hearing-impaired argentinean population
-
2-s2.0-77950095765 10.1159/000254487
-
Dalamón V., Lotersztein V., Béhèran A., Lipovsek M., Diamante F., Pallares N., Francipane L., Frechtel G., Paoli B., Mansilla E., Diamante V., Elgoyhen A. B., GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired argentinean population. Audiology and Neurotology 2010 15 3 194 202 2-s2.0-77950095765 10.1159/000254487
-
(2010)
Audiology and Neurotology
, vol.15
, Issue.3
, pp. 194-202
-
-
Dalamón, V.1
Lotersztein, V.2
Béhèran, A.3
Lipovsek, M.4
Diamante, F.5
Pallares, N.6
Francipane, L.7
Frechtel, G.8
Paoli, B.9
Mansilla, E.10
Diamante, V.11
Elgoyhen, A.B.12
-
8
-
-
33645546166
-
Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?
-
2-s2.0-33645546166 10.1055/s-2005-870302
-
Birkenhäger R., Zimmer A. J., Maier W., Schipper J., Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss? Laryngo- Rhino- Otologie 2006 85 3 191 196 2-s2.0-33645546166 10.1055/s-2005-870302
-
(2006)
Laryngo- Rhino- Otologie
, vol.85
, Issue.3
, pp. 191-196
-
-
Birkenhäger, R.1
Zimmer, A.J.2
Maier, W.3
Schipper, J.4
-
9
-
-
34547683596
-
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
-
2-s2.0-34547683596 10.1097/GIM.0b013e3180a03276
-
Putcha G. V., Bejjani B. A., Bleoo S., Booker J. K., Carey J. C., Carson N., Das S., Dempsey M. A., Gastier-Foster J. M., Greinwald J. H. Jr., Hoffmann M. L., Jeng L. J. B., Kenna M. A., Khababa I., Lilley M., Mao R., Muralidharan K., Otani I. M., Rehm H. L., Schaefer F., Seltzer W. K., Spector E. B., Springer M. A., Weck K. E., Wenstrup R. J., Withrow S., Wu B.-L., Zariwala M. A., Schrijver I., A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genetics in Medicine 2007 9 7 413 426 2-s2.0-34547683596 10.1097/GIM.0b013e3180a03276
-
(2007)
Genetics in Medicine
, vol.9
, Issue.7
, pp. 413-426
-
-
Putcha, G.V.1
Bejjani, B.A.2
Bleoo, S.3
Booker, J.K.4
Carey, J.C.5
Carson, N.6
Das, S.7
Dempsey, M.A.8
Gastier-Foster, J.M.9
Greinwald Jr., J.H.10
Hoffmann, M.L.11
Jeng, L.J.B.12
Kenna, M.A.13
Khababa, I.14
Lilley, M.15
Mao, R.16
Muralidharan, K.17
Otani, I.M.18
Rehm, H.L.19
Schaefer, F.20
Seltzer, W.K.21
Spector, E.B.22
Springer, M.A.23
Weck, K.E.24
Wenstrup, R.J.25
Withrow, S.26
Wu, B.-L.27
Zariwala, M.A.28
Schrijver, I.29
more..
-
10
-
-
84879171256
-
The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis- deafness syndrome display increased hemichannel activity
-
10.1152/ajpcell.00374.2012
-
Mhaske P. V., Levit N. A., Li L., The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity. American Journal of Physiology: Cell Physiology 2013 304 12 1150 1158 10.1152/ajpcell.00374.2012
-
(2013)
American Journal of Physiology: Cell Physiology
, vol.304
, Issue.12
, pp. 1150-1158
-
-
Mhaske, P.V.1
Levit, N.A.2
Li, L.3
-
11
-
-
78650433173
-
A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome
-
2-s2.0-78650433173 10.1111/j.1365-2133.2010.10058.x
-
de Zwart-Storm E. A., van Geel M., Veysey E., Burge S., Cooper S., Steijlen P. M., Martin P. E., Van Steensel M. A. M., A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. British Journal of Dermatology 2011 164 1 197 199 2-s2.0-78650433173 10.1111/j.1365-2133.2010. 10058.x
-
(2011)
British Journal of Dermatology
, vol.164
, Issue.1
, pp. 197-199
-
-
De Zwart-Storm, E.A.1
Van Geel, M.2
Veysey, E.3
Burge, S.4
Cooper, S.5
Steijlen, P.M.6
Martin, P.E.7
Van Steensel, M.A.M.8
-
12
-
-
77954097184
-
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene
-
2-s2.0-77954097184 10.1002/ajmg.a.33464
-
Birkenhäger R., Lüblinghoff N., Prera E., Schild C., Aschendorff A., Arndt S., Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. American Journal of Medical Genetics A 2010 152 7 1798 1802 2-s2.0-77954097184 10.1002/ajmg.a.33464
-
(2010)
American Journal of Medical Genetics A
, vol.152
, Issue.7
, pp. 1798-1802
-
-
Birkenhäger, R.1
Lüblinghoff, N.2
Prera, E.3
Schild, C.4
Aschendorff, A.5
Arndt, S.6
-
13
-
-
0037165262
-
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
-
DOI 10.1056/NEJMoa012052
-
del Castillo I., Villamar M., Moreno-Pelayo M. A., del Castillo F. J., Álvarez A., Tellería D., Menéndez I., Moreno F., A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. The New England Journal of Medicine 2002 346 4 243 249 2-s2.0-0037165262 10.1056/NEJMoa012052 (Pubitemid 34438863)
-
(2002)
New England Journal of Medicine
, vol.346
, Issue.4
, pp. 243-249
-
-
Del Castillo, I.1
Villamar, M.2
Moreno-Pelayo, M.A.3
Del Castillo, F.J.4
Alvarez, A.5
Telleria, D.6
Menendez, I.7
Moreno, F.8
-
14
-
-
77955087401
-
Cell membrane permeabilization via connexin hemichannels in living and dying cells
-
2-s2.0-77955087401 10.1016/j.yexcr.2010.05.026
-
Sáez J. C., Schalper K. A., Retamal M. A., Orellana J. A., Shoji K. F., Bennett M. V. L., Cell membrane permeabilization via connexin hemichannels in living and dying cells. Experimental Cell Research 2010 316 15 2377 2389 2-s2.0-77955087401 10.1016/j.yexcr.2010.05.026
-
(2010)
Experimental Cell Research
, vol.316
, Issue.15
, pp. 2377-2389
-
-
Sáez, J.C.1
Schalper, K.A.2
Retamal, M.A.3
Orellana, J.A.4
Shoji, K.F.5
Bennett, M.V.L.6
-
15
-
-
77955980879
-
Structural and functional studies of gap junction channels
-
2-s2.0-77955980879 10.1016/j.sbi.2010.05.003
-
Nakagawa S., Maeda S., Tsukihara T., Structural and functional studies of gap junction channels. Current Opinion in Structural Biology 2010 20 4 423 430 2-s2.0-77955980879 10.1016/j.sbi.2010.05.003
-
(2010)
Current Opinion in Structural Biology
, vol.20
, Issue.4
, pp. 423-430
-
-
Nakagawa, S.1
Maeda, S.2
Tsukihara, T.3
-
16
-
-
75149159657
-
The gap junction proteome and its relationship to disease
-
2-s2.0-75149159657 10.1016/j.tcb.2009.11.001
-
Laird D. W., The gap junction proteome and its relationship to disease. Trends in Cell Biology 2010 20 2 92 101 2-s2.0-75149159657 10.1016/j.tcb.2009. 11.001
-
(2010)
Trends in Cell Biology
, vol.20
, Issue.2
, pp. 92-101
-
-
Laird, D.W.1
-
17
-
-
0025798576
-
Cell/cell channel formation involves disulfide exchange
-
2-s2.0-0025798576
-
Dahl G., Levine E., Rabadan-Diehl C., Werner R., Cell/cell channel formation involves disulfide exchange. European Journal of Biochemistry 1991 197 1 141 144 2-s2.0-0025798576
-
(1991)
European Journal of Biochemistry
, vol.197
, Issue.1
, pp. 141-144
-
-
Dahl, G.1
Levine, E.2
Rabadan-Diehl, C.3
Werner, R.4
-
18
-
-
0037449718
-
Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26: Implication for key amino acid residues for channel formation and function
-
DOI 10.1074/jbc.M207713200
-
Oshima A., Doi T., Mitsuoka K., Maeda S., Fujiyoshi Y., Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26: implication for key amino acid residues for channel formation and function. The Journal of Biological Chemistry 2003 278 3 1807 1816 2-s2.0-0037449718 10.1074/jbc. M207713200 (Pubitemid 36801417)
-
(2003)
Journal of Biological Chemistry
, vol.278
, Issue.3
, pp. 1807-1816
-
-
Oshima, A.1
Doi, T.2
Mitsuoka, K.3
Maeda, S.4
Fujiyoshi, Y.5
-
19
-
-
84881604215
-
Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix
-
e70916
-
Ambrosi C., Walker A. E., Depriest A. D., Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix. PLoS ONE 2013 8 8 e70916
-
(2013)
PLoS ONE
, vol.8
, Issue.8
-
-
Ambrosi, C.1
Walker, A.E.2
Depriest, A.D.3
-
20
-
-
0031850493
-
Innexins: A family of invertebrate gap-junction proteins
-
DOI 10.1016/S0168-9525(98)01547-9
-
Phelan P., Bacon J. P., Davies J. A., Stebbings L. A., Todman M. G., Innexins: a family of invertebrate gap-junction proteins. Trends in Genetics 1998 14 9 348 349 2-s2.0-0031850493 10.1016/S0168-9525(98)01547-9 (Pubitemid 28392191)
-
(1998)
Trends in Genetics
, vol.14
, Issue.9
, pp. 348-349
-
-
Phelan, P.1
Bacon, J.P.2
Davies, J.A.3
Stebbings, L.A.4
Todman, M.G.5
-
21
-
-
0029974655
-
Connections with connexins: The molecular basis of direct intercellular signaling
-
Bruzzone R., White T. W., Paul D. L., Connections with connexins: the molecular basis of direct intercellular signaling. European Journal of Biochemistry 1996 238 1 1 27 2-s2.0-0029974655 (Pubitemid 26164180)
-
(1996)
European Journal of Biochemistry
, vol.238
, Issue.1
, pp. 1-27
-
-
Bruzzone, R.1
White, T.W.2
Paul, D.L.3
-
22
-
-
0030013202
-
Connexins, connexons, and intercellular communication
-
Goodenough D. A., Goliger J. A., Paul D. L., Connexins, connexons, and intercellular communication. Annual Review of Biochemistry 1996 65 475 502 2-s2.0-0030013202 (Pubitemid 26250617)
-
(1996)
Annual Review of Biochemistry
, vol.65
, pp. 475-502
-
-
Goodenough, D.A.1
Goliger, J.A.2
Paul, D.L.3
-
23
-
-
63849141447
-
Structure of the connexin 26 gap junction channel at 3.5 Å resolution
-
2-s2.0-63849141447 10.1038/nature07869
-
Maeda S., Nakagawa S., Suga M., Yamashita E., Oshima A., Fujiyoshi Y., Tsukihara T., Structure of the connexin 26 gap junction channel at 3.5 Å resolution. Nature 2009 458 7238 597 602 2-s2.0-63849141447 10.1038/nature07869
-
(2009)
Nature
, vol.458
, Issue.7238
, pp. 597-602
-
-
Maeda, S.1
Nakagawa, S.2
Suga, M.3
Yamashita, E.4
Oshima, A.5
Fujiyoshi, Y.6
Tsukihara, T.7
-
24
-
-
67650085890
-
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: Frequencies, novel mutations, genotypes, and degree of hearing loss
-
2-s2.0-67650085890 10.1089/gtmb.2008.0086
-
Primignani P., Trotta L., Castorina P., Lalatta F., Sironi F., Radaelli C., Degiorgio D., Curcio C., Travi M., Ambrosetti U., Cesarani A., Garavelli L., Formigoni P., Milani D., Murri A., Cuda D., Coviello D. A., Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss. Genetic Testing and Molecular Biomarkers 2009 13 2 209 217 2-s2.0-67650085890 10.1089/gtmb.2008.0086
-
(2009)
Genetic Testing and Molecular Biomarkers
, vol.13
, Issue.2
, pp. 209-217
-
-
Primignani, P.1
Trotta, L.2
Castorina, P.3
Lalatta, F.4
Sironi, F.5
Radaelli, C.6
Degiorgio, D.7
Curcio, C.8
Travi, M.9
Ambrosetti, U.10
Cesarani, A.11
Garavelli, L.12
Formigoni, P.13
Milani, D.14
Murri, A.15
Cuda, D.16
Coviello, D.A.17
-
25
-
-
0032498942
-
The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions
-
DOI 10.1083/jcb.140.5.1187
-
Foote C. I., Zhou L., Zhu X., Nicholson B. J., The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions. Journal of Cell Biology 1998 140 5 1187 1197 2-s2.0-0032498942 10.1083/jcb.140.5.1187 (Pubitemid 28128878)
-
(1998)
Journal of Cell Biology
, vol.140
, Issue.5
, pp. 1187-1197
-
-
Foote, C.I.1
Zhou, L.2
Zhu, X.3
Nicholson, B.J.4
-
26
-
-
0035504763
-
Understanding human disease mutations through the use of interspecific genetic variation
-
Miller M. P., Kumar S., Understanding human disease mutations through the use of interspecific genetic variation. Human Molecular Genetics 2001 10 21 2319 2328 2-s2.0-0035504763 (Pubitemid 33069538)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.21
, pp. 2319-2328
-
-
Miller, M.P.1
Kumar, S.2
-
27
-
-
62849103884
-
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
-
2-s2.0-62849103884 10.1038/ejhg.2008.179
-
Mani R. S., Ganapathy A., Jalvi R., Srikumari Srisailapathy C. R., Malhotra V., Chadha S., Agarwal A., Ramesh A., Rangasayee R. R., Anand A., Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. European Journal of Human Genetics 2009 17 4 502 509 2-s2.0-62849103884 10.1038/ejhg.2008.179
-
(2009)
European Journal of Human Genetics
, vol.17
, Issue.4
, pp. 502-509
-
-
Mani, R.S.1
Ganapathy, A.2
Jalvi, R.3
Srikumari Srisailapathy, C.R.4
Malhotra, V.5
Chadha, S.6
Agarwal, A.7
Ramesh, A.8
Rangasayee, R.R.9
Anand, A.10
-
28
-
-
84883526617
-
Insights into the role of cell-cell junctions in physiology and disease
-
Wei Q., Huang H., Insights into the role of cell-cell junctions in physiology and disease. International Review of Cell and Molecular Biology 2013 306 187 221
-
(2013)
International Review of Cell and Molecular Biology
, vol.306
, pp. 187-221
-
-
Wei, Q.1
Huang, H.2
-
29
-
-
84875445608
-
CDD: Conserved domains and protein three-dimensional structure
-
10.1093/nar/gkt458
-
Marchler-Bauer A., Zheng C., Chitsaz F., CDD: conserved domains and protein three-dimensional structure. Nucleic Acids Research 2013 41 1 D384 D352 10.1093/nar/gkt458
-
(2013)
Nucleic Acids Research
, vol.41
, Issue.1
-
-
Marchler-Bauer, A.1
Zheng, C.2
Chitsaz, F.3
|