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Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487). [PDF]

PLoS One
Ren B, Wu Y, Gan W, Zhang Q, Yang D, Cao W, Zhang X, Jiang Y, Zhang Y, Guo B, Tie Y, Liu J, Cai G, Wang Y, Ma Y.   +14 more
europepmc   +1 more source

A population-specific genomic reference panel for Taiwan: NHRI-RP-1. [PDF]

J Biomed Sci
Cheng KH, Chen YR, Chung RH, Lin MW, Weng HY, Lin YR, Lin YF, Hsu JS, Kirby R, Chuang SY, Liu YL, Huang SK, Chen WJ, Hsu CC, Sheu WH, Tsai SF.   +15 more
europepmc   +1 more source

Mutation analysis of the GJB2 (Connexin 26) gene in Egypt [PDF]

Human Mutation, 2005
Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among Caucasians, the c.35delG mutation in this gene accounts for up to 30 to 70% of all cases with early childhood deafness. In this study, we present the analysis of the GJB2 gene in 159 Egyptians from 111 families with non-syndromic ...
Guy van Camp
exaly   +4 more sources

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O gene GJB2

Genética na Escola, 2021
A perda auditiva ou surdez é um dos mais importantes defeitos sensoriais para os seres humanos, com enorme impacto na comunicação. A perda auditiva é um fenótipo de estudo complexo, dada a sua natureza heterogênea. Pode ser causada por fatores ambientais e genéticos, ou ser resultado da combinação de ambos.
Larissa Nascimento Antunes, Lilian Kimura, Renan Barbosa Lemes, Regina Célia Mingroni Netto, Ana Carla Batissoco   +4 more
openaire   +1 more source

Connexin26 gene (GJB2): prevalence of mutations in the Chinese population [PDF]

Journal of Human Genetics, 2002
The connexin26 gene ( GJB2) has been shown to be responsible for DFNB1 and DFNA3 (Autosomal Recessive Hereditary Nonsyndromic Deafness Locus 1 and Autosomal Dominant Hereditary Nonsyndromic Deafness Locus 3). Two hundred ten independently ascertained Chinese probands with nonsyndromic hearing loss (NSHL) were evaluated for mutations in GJB2, including ...
Yuhe, Liu, Xiaomei, Ke, Yu, Qi, Wei, Li, Ping, Zhu   +4 more
exaly   +3 more sources

GJB2 Gene Mutations in Childhood Deafness

Acta Oto-Laryngologica, 2000
The frequency of childhood deafness is estimated at 1:1,000 and at least half of these cases are genetic. Recently, mutations in the GJB2 gene have been found in a great number of familial and sporadic cases of congenital deafness in Caucasians. The most common mutation (70%) is the frameshift mutation of a single guanine in position 35 (35delG).
S, Angeli, R, Utrera, S, Dib, E, Chiossone, C, Naranjo, O, Henríquez, M, Porta   +6 more
openaire   +2 more sources

Bioinformatic Analysis of GJB2 Gene Missense Mutations

Cell Biochemistry and Biophysics, 2014
Gap junction beta 2 (GJB2) gene is the most commonly mutated connexin gene in patients with autosomal recessive and dominant hearing loss. According to Ensembl (release 74) database, 1347 sequence variations are reported in the GJB2 gene and about 13.5% of them are categorized as missense SNPs or nonsynonymous variant.
openaire   +2 more sources

The association between GJB2 gene polymorphism and psoriasis: a verification study

Archives of Dermatological Research, 2012
Psoriasis is a chronic inflammatory skin disease with multifactorial etiology. Connexin 26 (Cx26), an important gap junction protein, has been found highly expressed in plaques of psoriasis. Recently, genome wide association studies (GWAS) identified one new single nucleotide polymorphism (SNP) in GJB2 gene coding for Cx26 protein associated with ...
Que-Ping, Liu, Li-Sha, Wu, Fang-Fang, Li, Shuang, Liu, Juan, Su, Ye-Hong, Kuang, Chen, Chen, Xiao-Yun, Xie, Ming-Hao, Jiang, Shuang, Zhao, Ming-Liang, Chen, Xiang, Chen   +11 more
exaly   +3 more sources

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia

International Journal of Pediatric Otorhinolaryngology, 2010
The purpose of this study was to determine the prevalence of c.35delG and p.M34T mutations in the GJB2 gene among children with early onset hearing loss and within a general population of Estonia.Using an arrayed primer extension assay, we screened 233 probands with early childhood onset hearing loss for 107 different mutations in the GJB2 gene.
Rita, Teek, Katrin, Kruustük, Riina, Zordania, Kairit, Joost, Tiia, Reimand, Tõnu, Möls, Eneli, Oitmaa, Tiina, Kahre, Neeme, Tõnisson, Katrin, Ounap   +9 more
openaire   +2 more sources

GJB2 gene mutations causing familial hereditary deafness in Turkey

International Journal of Pediatric Otorhinolaryngology, 2003
Mutations in Connexin 26 (Cx26) play an important role in autosomal non-syndromic hereditary hearing loss. In this study, our objective was to find out the significance of Cx26 mutations in Turkish families who had hereditary deafness. Fourteen families who had at least two prelingually deaf children per family were included in the study.
Mumbuc, S, Cakmak, EA, Ozer, E, Kanlikama, M, Smith, RJH, Chamberlin, P, Kara, C, Cataloluk, O, Cable, BB, Bayazit, YA, Arslan, A   +10 more
openaire   +3 more sources