Results 81 to 90 of about 5,521 (170)

Investigating GJB2 Mutation in 31 Individuals With Non-syndromic Hearing Loss

Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2021
Background and Aim: Non-syndromic hearing loss is a genetically heterogeneous disorder. Mutation in the GJB2 gene is a major cause of non-syndromic hearing loss in numerous countries. This study aimed to evaluate GJB2 mutations in 31 individuals with non-
Pedram Pouryari Biyachal, Najmeh Ranji, Ali Nazemi   +2 more
doaj  

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains. [PDF]

Biomolecules, 2023
Posukh OL, Maslova EA, Danilchenko VY, Zytsar MV, Orishchenko KE.   +4 more
europepmc   +1 more source

Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss

Iranian Journal of Public Health, 2016
Background: Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity.
Marjan MASOUDI, Najmeh AHANGARI, Ali Akbar POURSADEGH ZONOUZI, Ahmad POURSADEGH ZONOUZI, Azim NEJATIZADEH   +4 more
doaj  

Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants

Scientific Reports
To investigate the association between hereditary hearing loss and vestibular function, we compared vestibular function and symptoms among patients with GJB2, SLC26A4, and CDH23 variants.
Keita Tsukada, Shin-ya Nishio, Yutaka Takumi, Shin-ichi Usami   +3 more
doaj   +1 more source

Clinical characteristics of newborns with the deafness-associated GJB2 variant p.V37I in Changzhi, China

Journal of Clinical and Health Sciences
Background: Hearing loss affects over 430 million people globally, with genetic factors accounting for at least 50% of congenital cases. The GJB2 gene mutations are the most common cause of non-syndromic hearing impairment (NSHI) worldwide, but the ...
Ruijie Feng, Ernest Mangantig, wan shahriman yushdie wan yusoff, khairil anuar md isa, Zhipeng Hu, Xiaoze Li, Mohd Nazri Abu   +6 more
doaj   +1 more source

Analysis of Serum Inflammatory Markers in Infants Under 6 Months of Age with Non-Syndromic Moderate and Severe Hearing Loss Associated with GJB2 Gene Mutations. [PDF]

Med Sci Monit, 2023
Zhang X, Ma Z, Zheng J, Xu H, Pan J, Lv L.   +5 more
europepmc   +1 more source

The variants and prevalence of the GJB2 and GJB6 in patients with non-syndromic congenital sensorineural hearing loss in Maluku, Indonesia

The Egyptian Journal of Otolaryngology
Background Mutations in the GJB2 (connexin 26) and GJB6 (connexin 30) genes are the most common causes of congenital non-syndromic sensorineural hearing loss.
Rodrigo Limmon, Abdul Qadar Punagi, Masyita Gaffar, Irfan Idris, Handayani Halik   +4 more
doaj   +1 more source

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population. [PDF]

J Med Life, 2021
Al-Janabi AM, Ahmmed HS, Al-Khafaji SM.
europepmc   +1 more source

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene. [PDF]

Genes (Basel), 2022
Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R.   +13 more
europepmc   +1 more source

159 Congenital leukonychia caused by a mutation in the GJB2 gene [PDF]

Journal of Investigative Dermatology, 2021
R. Yokoyama, R. Hayashi, O. Ansai, A. Hasegawa, S. Shinkuma, R. Abe   +5 more
openaire   +1 more source