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Items: 1 to 20 of 64

1.

The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.

Huang S, Huang B, Wang G, Kang DY, Zhang X, Meng X, Dai P.

Int J Pediatr Otorhinolaryngol. 2017 Nov;102:67-70. doi: 10.1016/j.ijporl.2017.09.001. Epub 2017 Sep 7.

PMID:
29106878
2.

Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.

Li TC, Kuan YH, Ko TY, Li C, Yang JJ.

Biochem Cell Biol. 2014 Aug;92(4):251-7. doi: 10.1139/bcb-2013-0126. Epub 2014 May 15.

PMID:
24913888
3.

Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death.

Chi J, Li L, Liu M, Tan J, Tang C, Pan Q, Wang D, Zhang Z.

PLoS One. 2012;7(2):e32531. doi: 10.1371/journal.pone.0032531. Epub 2012 Feb 29.

4.

EKV mutant connexin 31 associated cell death is mediated by ER stress.

Tattersall D, Scott CA, Gray C, Zicha D, Kelsell DP.

Hum Mol Genet. 2009 Dec 15;18(24):4734-45. doi: 10.1093/hmg/ddp436. Epub 2009 Sep 14.

5.

Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.

Abrams CK, Freidin MM, Verselis VK, Bargiello TA, Kelsell DP, Richard G, Bennett MV, Bukauskas FF.

Proc Natl Acad Sci U S A. 2006 Mar 28;103(13):5213-8. Epub 2006 Mar 20.

6.

Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.

He LQ, Liu Y, Cai F, Tan ZP, Pan Q, Liang DS, Long ZG, Wu LQ, Huang LQ, Dai HP, Xia K, Xia JH, Zhang ZH.

Acta Biochim Biophys Sin (Shanghai). 2005 Aug;37(8):547-54.

7.

Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.

Rouan F, Lo CW, Fertala A, Wahl M, Jost M, Rodeck U, Uitto J, Richard G.

Exp Dermatol. 2003 Apr;12(2):191-7.

PMID:
12702148
8.

Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment.

Mhatre AN, Weld E, Lalwani AK.

Clin Genet. 2003 Feb;63(2):154-9.

PMID:
12630965
9.

Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells.

Diestel S, Richard G, Döring B, Traub O.

Biochem Biophys Res Commun. 2002 Aug 23;296(3):721-8.

PMID:
12176042
10.

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.

Di WL, Monypenny J, Common JE, Kennedy CT, Holland KA, Leigh IM, Rugg EL, Zicha D, Kelsell DP.

Hum Mol Genet. 2002 Aug 15;11(17):2005-14.

PMID:
12165562
11.

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.

López-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbonés ML, Estivill X.

Hum Mol Genet. 2001 Apr 15;10(9):947-52.

PMID:
11309368
12.

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.

López-Bigas N, Rabionet R, Martínez E, Banchs I, Volpini V, Vance JM, Arbonés ML, Estivill X.

Hum Mutat. 2000 May;15(5):481-2.

PMID:
10790215
13.

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.

Hum Mol Genet. 2000 Jan 1;9(1):63-7.

PMID:
10587579
14.

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.

Van Camp G, Coucke PJ, Kunst H, Schatteman I, Van Velzen D, Marres H, van Ewijk M, Declau F, Van Hauwe P, Meyers J, Kenyon J, Smith SD, Smith RJ, Djelantik B, Cremers CW, Van de Heyning PH, Willems PJ.

Genomics. 1997 Apr 1;41(1):70-4.

PMID:
9126484
15.

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.

Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CW, Kimberling WJ, et al.

N Engl J Med. 1994 Aug 18;331(7):425-31.

16.

Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.

Li Y, Zhu B.

Mol Med Rep. 2016 Jul;14(1):319-24. doi: 10.3892/mmr.2016.5280. Epub 2016 May 13.

PMID:
27176802
17.

The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.

Sugiura K, Arima M, Matsunaga K, Akiyama M.

Br J Dermatol. 2015 Jul;173(1):309-11. doi: 10.1111/bjd.13641. Epub 2015 May 28. No abstract available.

PMID:
25556823
18.

A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family.

Wang W, Liu LH, Chen G, Gao M, Zhu J, Zhou FS, Cheng H, Tang HY, Wu BY, Sun LD, Yang S, Wang PG, Zhang XJ.

Clin Exp Dermatol. 2012 Dec;37(8):919-21. doi: 10.1111/j.1365-2230.2012.04406.x. Epub 2012 Jun 8. No abstract available.

PMID:
22681493
19.

Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.

Oh SK, Choi SY, Yu SH, Lee KY, Hong JH, Hur SW, Kim SJ, Jeon CJ, Kim UK.

Biochim Biophys Acta. 2013 Jan;1832(1):285-91. doi: 10.1016/j.bbadis.2012.05.009. Epub 2012 May 19.

20.

Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.

Liu H, Liu H, Fu XA, Yu YX, Zhou GZ, Lu XM, Tian HQ, Yu CP, Shi ZX, Yu ML, Zhang FR.

J Dermatol. 2012 Apr;39(4):400-1. doi: 10.1111/j.1346-8138.2011.01314.x. Epub 2011 Sep 28. No abstract available.

PMID:
21950330

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