Results 91 to 100 of about 8,250 (205)

GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.

Audiology & neuro-otology, 2010
Fil: Diamante, Fernando. Centro de Implantes Cocleares "Prof. Dr.
Dalamon, Viviana Karina, Lotersztein, Vanesa, Béhèran, Agustina, Lipovsek, Maria Marcela, Diamante, Fernando, Pallares, Norma, Francipane, Liliana, Frechtel, Gustavo Daniel, Paoli, Bibiana, Mansilla, Enrique, Diamante, Vicente, Elgoyhen, Ana Belen   +11 more
openaire   +2 more sources

Compound heterozygous dominant and recessive GJB2 mutations cause deafness with palmoplantar keratoderma

Acta Oto-Laryngologica Case Reports, 2017
GJB2 gene mutation is the most common cause of congenital sensorineural hearing loss worldwide. Most GJB2 gene mutations have been associated with autosomal recessive non-syndromic hearing loss (DFNB1), but some are also associated with autosomal ...
Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Shin-Ya Nisio, Nobuhiko Oridate, Shin-Ichi Usami   +5 more
doaj   +1 more source

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes

Frontiers in Molecular Neuroscience, 2017
The inner ear is a very complex sensory organ whose development and function depend on finely balanced interactions among diverse cell types. The many different kinds of inner ear supporting cells play the essential roles of providing physical and ...
Francisco J. del Castillo, Francisco J. del Castillo, Ignacio del Castillo, Ignacio del Castillo   +3 more
doaj   +1 more source

Hohe Prävalenz GJB2 Mutationen in einem hörgeschädigten Patientenkollektiv

, 2016
Hintergrund: Die Schwerhörigkeit ist das häufigste sensorische Defizit in Menschen. Zwischen 1 und 5 aller Neugeborenen leiden an eine behandlungsbedürftige Schwerhörigkeit.
Warnecke, A, Lesinski-Schiedat, A, Schöner-Heinisch, A, Lenarz, T, Burke, W   +4 more
core   +1 more source

GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

Journal of Translational Medicine, 2009
Background Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups.
Tang Liang, Zhang Jin, Xu Xuehai, Hou Nongsheng, Cui Jinghong, You Yiwen, Zhu Xiuhui, Deng Wei, Liu Lijia, Lin Hongyan, Yu Youjun, Ye Qing, Wang Youqin, He Yong, He Jia, Hao Jinsheng, Yao Kun, Yuan Huijun, Zhang Xin, Kang Dongyang, Huang Deliang, Liu Xin, Yuan Yongyi, Li Qi, Wang Guojian, Liu Xuezhong, Han Bing, Yu Fei, Dai Pu, Song Rendong, Lin Yongjun, Sun Shuanzhu, Zhang Ruining, Wu Hao, Ma Yuebing, Zhu Shanxiang, Wu Bai-lin, Han Dongyi, Wong Lee-Jun C   +38 more
doaj   +1 more source

Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran

, 2011
Objectives:To investigate the prevalence of mutations in the coding exon of the GJB2 gene in Iranian children with cochlear implants, and to compare the outcomes of auditory perception and speech production in cochlear-implanted children with and without
A Daneshi, H Emamdjomeh, H Najmabadi, S Hassanzadeh, S Arzhangi, M Farhadi, S H Mohammadi   +6 more
core   +1 more source

GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal [PDF]

, 2022
The prevalence of GJB2-related (MIM: 121011) congenital non-syndromic hearing impairment (NSHI) accounts for close to 50% in populations of Asian and European ancestry.
Dia, Yacouba, Aboagye, Elvis Twumasi, Oluwale, Oluwafemi Gabriel, Diop, Jean Pascal Demba, Sarr, Pierre Diaga, Ba, Seydi Abdoul, Diallo, Rokhaya Ndiaye, Adadey, Samuel Mawuli, Ly, Cheikh Ahmed Tidjane, Wonkam, Ambroise, Diallo, Bay Karim, De Kock, Carmen, Sène, Andrea Regina Gnilane   +12 more
core  

Functional Evaluation of GJB2 Variants in Nonsyndromic Hearing Loss

Molecular Medicine, 2011
Mutations in the gap junction β2 (GJB2) gene, encoding the connexin26 (CX26) protein, are the most common cause of non-syndromic hearing loss (HL) in many populations. In the East Asian population, two variants, p.V27I (c.79G>A) and p.E114G (c.341G>A), are considered benign polymorphisms since these variants have been identified in both HL patients and
Soo-Young, Choi, Kyu Yup, Lee, Hyun-Jin, Kim, Hyo-Kyeong, Kim, Qing, Chang, Hong-Joon, Park, Chang-Jin, Jeon, Xi, Lin, Jinwoong, Bok, Un-Kyung, Kim   +9 more
openaire   +3 more sources

Mutation Spectrum of GJB2 in Taiwanese Patients with Sensorineural Hearing Loss: Prevalence, Pathogenicity, and Clinical Implications

Hearing loss is often caused by genetic and environmental factors, with inherited mutations responsible for 50–60% of cases. The GJB2 gene, encoding connexin 26, is a major contributor to nonsyndromic sensorineural hearing loss (NSHL) due to its ...
Hung-Ching Lin, Lin, Yi-Feng, Chen, Che-Hong, Lee, Chang-Yin, Yi-Feng Lin, Lin, Hung-Ching, Yi-Chao Hsu, Chang-Yin Lee, Hsu, Yi-Chao, Che-Hong Chen   +9 more
core   +1 more source

Unclassified GJB2 variants in Patients with NSHL.

, 2016
Unclassified GJB2 variants in Patients with NSHL.
Ping Hu (59156), Zixuan Gao (3280983), Chiyu Xu (3280986), Lei Zhang (38117), Huijun Yuan (306842), Yu Song (316955), Jie Wang (16762), Jing Cheng (41407), Jia Ke (159553), Hong Duan (738968), Tao Li (86810), Yu Lu (11575), Furong Ma (3280989)   +12 more
core   +1 more source