Results 11 to 20 of about 1,391 (157)

A Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) test to Detect the Common Mutation (35delG) in the Connexin-26 Gene [PDF]

Sultan Qaboos University Medical Journal, 2001
Objective: To develop a polymerase chain reaction (PCR) based test for the detection of a common frame-shift mutation (35delG) in the connexin-26 (GJB2) gene, and to investigate the status of this mutation in Oman.
Mehmet Simsek, Nadia Al-Wardy, Mazin Al-Khabory   +2 more
doaj   +1 more source

"Two Novel Mutations and Predominant 35delG Mutation in the Connexin 26 Gene (GJB2) in Iranian Populations" [PDF]

Iranian Journal of Public Health, 2004
Mutations in the GJB2 gene encoding Connexin 26 (Cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations.
"M Hashemzadeh Chaleshtori, M Dowlati, DD Farhud, L Hoghooghi Rad, R Sasanfar A Hoseinipour, M Montazer Zohour, A Tolooi, M Ghadami, HR Pourjafari, MA Oshaghi, MA Patton "   +10 more
doaj   +2 more sources

Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss. [PDF]

Hum Mutat
Background Genetic testing is essential to the diagnosis of nonsyndromic bilateral sensorineural hearing loss (BSNHL), where pathogenic variants in GJB2 are the most common cause. Current testing strategies often fail to provide a comprehensive diagnosis and typically require the use of multiple testing methodologies.
Rentas S, Rajagopalan R, Ayazseven T, Sarmady M, Raible SE, Krantz ID, Abou Tayoun AN.   +6 more
europepmc   +2 more sources

Limited Utility of Existing Hearing Loss Panels in the Assessment of Early-Onset, Bilateral Meniere's Disease. [PDF]

OTO Open
Abstract Objective While the etiology of Meniere's disease (MD) is likely multifactorial, genetics are thought to play a role. Several previous studies have yielded inconclusive results, potentially due to phenotypic uncertainty and variable diagnostic criteria.
Shah KV, Jung C, Talian D, Davis S, Epstein DJ, Ruckenstein MJ, Hwa TP.   +6 more
europepmc   +2 more sources

Degradation of cochlear Connexin26 accelerate the development of age‐related hearing loss

Aging Cell, Volume 22, Issue 11, November 2023., 2023
In this paper, our results support the hypothesis that reduction of Cx26 and disruption of GJPs in the cochlea contribute to the development and progression of age‐related hearing loss. The degradation of Cx26 tends to occur in the early stages of age‐related hearing loss. Therefore, it can be used as an early warning marker of age‐related hearing loss.
Kai Xu, Sen Chen, Xue Bai, Le Xie, Yue Qiu, Xiao‐zhou Liu, Xiao‐hui Wang, Wei‐jia Kong, Yu Sun   +8 more
wiley   +1 more source

Frecvența mutației 35delG a genei GJB2 în populația Republicii Moldova [PDF]

, 2020
Background. The single-nucleotide guanine deletion 35delG in GJB2 exon 2 is the leading pathogenic mutation for up to 70% of cases of congenital nonsyndromic sensorineural hearing loss (NSHL) among Europeans.
Curocichin, Ghenadie, Parii, Sergiu, Buza, Anastasia, Butovscaia, Cristina, Galea-Abdusa, Daniela   +4 more
core   +1 more source

Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong

Molecular Genetics &Genomic Medicine, Volume 11, Issue 8, August 2023., 2023
In this study, hotspot mutations in the GJB2 gene of all subjects were sequenced and comprehensively analyzed to investigate the mutation spectrum of this region and the pathogenic characteristics of the c.109G>A mutation. It was speculated that the pathogenicity of the c.109G>A mutation was delayed, and some adolescents with c.109G>A mutation did not ...
Shaoming Liang, Weihong Li, Zhichao Chen, Shimin Yuan, Zhao Wang   +4 more
wiley   +1 more source

Gene essentiality and variability: What is the link? A within‐ and between‐species perspective

BioEssays, Volume 44, Issue 11, November 2022., 2022
The fact that a gene is essential is not systematically associated with sequence conservation. Some degree of polymorphism is allowed, especially when heterozygous individuals are protected from parasitic or infectious diseases, or when a change in protein sequence allows the population to better adapt to a change in environment.
Tania Dubois‐Mignon, Philippe Monget
wiley   +1 more source

Connexin 36 35delG does not represent a mutational hot spot.

, 2003
Non-syndromic hearing impairment (NSHI) is the most common form of deafness and presents with no other symptoms or sensory defects. Mutations in the gap junction gene GJB2 account for a high proportion of recessive NSHI. The GJB2 gene encodes connexin 26,
YU LE, MURGIA, ALESSANDRA, ARTORATO E, LEONARDI E, WEI S, ELFENBEIN JL, LEBEIS SE, FISHER RA, ROTHROCK CR, FRIDERICI K.   +9 more
core   +2 more sources

Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples [PDF]

, 2015
Objective: To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients.
Neto, AP, Barros, H, Fernandes, S, Moura, CP, Dória, M, Santos, AC   +5 more
core   +1 more source