Results 21 to 30 of about 5,521 (170)

Generation of two iPSC lines from siblings of a homozygous patient with hearing loss and a heterozygous carrier with normal hearing carrying p.G45E/Y136X mutation in GJB2

Stem Cell Research, 2021
The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Among them, the G45E/Y136X mutation in GJB2 is the third most prevalent in Japan.
Ichiro Fukunaga, Yoko Oe, Keiko Danzaki, Sayaka Ohta, Cheng Chen, Madoka Iizumi, Takahiro Shiga, Rina Matsuoka, Takashi Anzai, Remi Hibiya-Motegi, Shori Tajima, Katsuhisa Ikeda, Wado Akamatsu, Kazusaku Kamiya   +13 more
doaj   +1 more source

GJB2 GENE

The Professional Medical Journal, 2015
This article reviews the most prevalent sensory illness of mammals especiallyhumans – Genetic Deafness or hearing loss (HL). For genetic hearing loss more than 100candidate genes have been discovered. The most common candidate gene of these all that isfound all around the world is GJB2 gene.
Sana Ullah, Khaista Rahman, Muhammad Tariq, Tauseef Ahmad   +3 more
openaire   +2 more sources

A systematic review and meta-analysis of 235delC mutation of GJB2 gene [PDF]

Journal of Translational Medicine, 2012
Abstract Background The 235delC mutation of GJB2 gene is considered as a risk factor for the non-syndromic hearing loss (NSHL), and a significant difference in the frequency and distribution of the 235delC mutation has been described world widely.
Yao Jun, Lu Yajie, Wei Qinjun, Cao Xin, Xing Guangqian   +4 more
openaire   +3 more sources

Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss

Revista Médica del Hospital General de México, 2017
Background: Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the GJB2 gene represents the most frequent cause of hereditary SNHL.
M. Martínez-Saucedo, M.R. Rivera-Vega, L.M. Gonzalez-Huerta, H. Urueta-Cuéllar, S.A. Cuevas-Covarrubias   +4 more
doaj   +1 more source

Prevalence of 35delG mutation in GJB2 gene in the Moldavian population

The Moldovan Medical Journal, 2020
Background: Guanine deletion 35delG in GJB2 exon 2 is the pathogenic mutation responsible for up to 70% of cases of congenital non-syndromic sensorineural hearing loss (NSHL) among Europeans. The early molecular diagnostic of hearing loss nature has become important while considering the cochlear implants. The purpose of this study was to establish the
Buza, Anastasia, Parii, Sergiu, Butovscaia, Cristina, Galea-Abdusa, Daniela, Radulescu, Luminita, Curocichin, Ghenadie   +5 more
openaire   +3 more sources

GJB2 Gene Mutations in Cochlear Implant Recipients [PDF]

Archives of Otolaryngology–Head & Neck Surgery, 2004
To determine the prevalence of GJB2 gene mutations in patients undergoing cochlear implantation (CI) and their impact on rehabilitative outcome following implantation.Prospective determination of GJB2 mutation by sequence analysis by denaturing high-performance liquid chromatography and its correlation with outcome following CI.Two tertiary academic ...
Lawrence R, Lustig, Doris, Lin, Holly, Venick, Jan, Larky, Jennifer, Yeagle, Jill, Chinnici, Colleen, Polite, Anand N, Mhatre, John K, Niparko, Anil K, Lalwani   +9 more
openaire   +2 more sources

Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene

Stem Cell Research, 2020
Gap junction protein beta 2 gene (GJB2) mutations are the most frequent cause of hereditary hearing impairment. The recessive c.235delC mutation in the GJB2 gene is the most common mutation causing severe to profound sensorineural hearing loss in the ...
Chun-Ying Huang, Yi-Hsiu Tsai, Yi-Ching Tsai, Ying-Chang Lu, Yen-Hui Chan, Chuan-Jen Hsu, Shih-Hwa Chiou, Chen-Chi Wu, Yen-Fu Cheng   +8 more
doaj   +1 more source

Diagnostic pitfalls for GJB2‐related hearing loss: A novel deletion detected by Array‐CGH analysis in a Japanese patient with congenital profound hearing loss

Clinical Case Reports, 2018
Key Clinical Message Here, we report a novel deletion (copy number variation: CNV) in the GJB2 gene observed in a Japanese hearing loss patient. The deleted segment started in the middle of the GJB2 gene, but the GJB6 gene remained intact.
Satoko Abe, Shin‐ya Nishio, Yoh Yokota, Hideaki Moteki, Kozo Kumakawa, Shin‐ichi Usami   +5 more
doaj   +1 more source

Sequence Variations and Haplotypes of the Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea [PDF]

Clinical and Experimental Otorhinolaryngology, 2010
ObjectivesHearing impairment (HI) is the most common sensory deficit in human. The Gap Junction Protein, Beta-2 (GJB2) gene encodes the protein connexin 26, and this gene accounts for up to half of the cases of autosomal recessive nonsyndromic HI.
Hee-Jung Kim, Chang-Hun Park, Hee-Jin Kim, Ki-O Lee, Hong-Hee Won, Moon-Hee Ko, Hosuk Chu, Yang-Sun Cho, Won-Ho Chung, Jong-Won Kim, Sung Hwa Hong   +10 more
doaj   +1 more source

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