Results 141 to 150 of about 5,521 (170)

High frequency hearing loss correlated with mutations in the GJB2 gene

Human Genetics, 2000
Genetic hearing impairment affects approximately 1/2000 live births. Mutations in one gene, GJB2, coding for connexin 26 cause 10%-20% of all genetic sensorineural hearing loss. Mutation analysis in the GJB2 gene and audiology were performed on 106 families presenting with at least one child with congenital hearing loss.
S A, Wilcox, K, Saunders, A H, Osborn, A, Arnold, J, Wunderlich, T, Kelly, V, Collins, L J, Wilcox, R J, McKinlay Gardner, M, Kamarinos, B, Cone-Wesson, R, Williamson, H H, Dahl   +12 more
openaire   +2 more sources

[GJB2 gene mutation in deaf patients].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009
To detect the GJB2 gene mutation in patients with autosomal-recessive deafness, and analyze the relationship between clinical phenotype and gene mutation.Forty-two patients were examined clinically by pure tone audiometry, acoustic impedance and auditory brainstem response.
Zhi-yong, Xu, Guo-feng, Gao, Chang, Liu, Yu-hua, Hu, Yi, Lin, Ruan-zhang, Zhang, Ming, Liu, Sha-yan, Wang   +7 more
openaire   +1 more source

[Analysis on mutations of GJB2 gene in Chinese population].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2004
To determine the prevalence and types of GJB2 mutations and to investigate the genetic mechanism in Chinese autosomal recessive deafness.The subjects were four Chinese pedigrees (39 individuals) and 50 normal adults. GJB2 was amplified by PCR. The products were digested with restriction enzyme Apa I, then sequenced.Homozygous deletion C at position 232-
Jian-rui, Li, Ying, Chen, Wan-bei, Guo, Ling-xiang, Li, Ru-qing, Li   +4 more
openaire   +1 more source

GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness

Cell Biochemistry and Biophysics, 2015
Mutations in gap junction proteins encoding beta connexions are believed to be a major cause for congenital hearing loss. The purpose of this study was to do comparative analyses of frequencies of most prominent mutations responsible for congenital deafness.
Yuan, Fang, Maosheng, Gu, Chuanxia, Wang, Feng, Suo, Guangming, Wang, Yujuan, Xia   +5 more
openaire   +2 more sources

[Hearing loss associated with GJB2 gene mutation].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2014
Deafness refers to different degrees of hearing loss (HL). The factors leading to HL are complex, among which heredity is a major one. Nonsyndromic hearing loss (NSHL) accounts for 80% of hereditary deafness. More than 140 genes have been regarded to be closely related to NSHL.
Qingjia, Cui, Lihui, Huang
openaire   +1 more source

Genetic hearing loss: GJB2 gene and a targeted-gene panel analysis

2020
A hipoacusia neurossensorial (HNS) é a anomalia sensorial congénita mais comum, afetando aproximadamente 1 em cada 500-1000 recém-nascidos. É não sindrómica em 70% dos indivíduos, apresentando hereditariedade autossómica dominante em 15-20% dos casos, autossómica recessiva em 80%, ou ainda ligada ao cromossoma X ou mitocondrial numa minoria dos casos ...
openaire   +2 more sources

Mechanisms of congenital hearing loss caused by GJB2 gene mutations and current progress in gene therapy

Gene
GJB2 gene is a common pathogenic gene for non-syndromic hearing loss, located on chromosome 13q12.11, and primarily encodes connexin 26 (Cx26). Cx26, a member of the gap-junction protein family, is mainly expressed in the supporting cells of the cochlea, where it is responsible for intercellular material transfer and signal exchange.
Sijie, Ma, Xiaowan, Chen, Yanli, Wang, Yufen, Guo   +3 more
openaire   +2 more sources

[Mutations of GJB2 gene in infants with non-syndromic hearing impairment].

Zhonghua yi xue za zhi, 2005
To explore the relationship between GJB2 gene mutations and severe-to-profound bilateral non-syndromic hearing impairment (NSHI).Peripheral blood was collected from 20 infants with severe-to-profound bilateral NSHI confirmed by otoacoustic emissions (OAE), auditory brainstem responses (ABR) and clinical physical examination, 11 male and 9 female, aged ...
Gui-Zhi, Shi, Lu-Xia, Gong, Wen-Ying, Nie, Qian, Lin, Li-Li, Xiang, Xiao-Hu, Xu, Yi-Sheng, Qi   +6 more
openaire   +1 more source

Gene symbol: GJB2.

Human genetics, 2007
Tiago, Matos, H, Caria, H, Teixeira, G, Fialho   +3 more
openaire   +3 more sources

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains

Biomolecules, 2023
Valeriia Danilchenko, Konstantin Orishchenko, Marina Zytsar   +2 more
exaly