نتایج جستجو برای: gjb2 gene

تعداد نتایج: 1141753  

Journal: :Human molecular genetics 2005
Yukihide Maeda Kunihiro Fukushima Kazunori Nishizaki Richard J H Smith

Mutations in GJB2 (gap junction protein, beta-2) are the major cause of autosomal recessive non-syndromic hearing loss. A few allele variants of this gene also cause autosomal dominant non-syndromic hearing loss as a dominant-negative consequence of expression of the mutant protein. Allele-specific gene suppression by RNA interference (RNAi) is a potentially attractive strategy to prevent heari...

2016
Guilherme M. de Carvalho Priscila Z. Ramos Arthur M. Castilho Alexandre C. Guimarães Edi L. Sartorato

The auditory neuropathy is a condition which there is a dyssynchrony in the nerve conduction of the auditory nerve fibers. There is no evidence about the relationship between patients with clinical auditory neuropathy spectrum disorder and mutations in GJB2 gene. There are only two studies about this topic in the medical literature. Connexin 26 (GJB2 gene) mutations are common causes of genetic...

2017
Masoud Akbarzadeh Laleh Marzieh Naseri Ali Akbar Poursadegh Zonouzi Ahmad Poursadegh Zonouzi Marjan Masoudi Najmeh Ahangari Leila Shams Azim Nejatizadeh

BACKGROUND We aimed to determine the contribution of four DFNB loci and mutation analysis of gap junction beta-2 (GJB2) and GJB4 genes in autosomal recessive nonsyndromic hearing loss (ARNSHL) in South of Iran. MATERIALS AND METHODS A total of 36 large ARNSHL pedigrees with at least two affected subjects were enrolled in the current study. The GJB2 and GJB4 genes mutations were screened using...

ژورنال: ارمغان دانش 2022

Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...

2009
Masyita Gaffar Freddy G. Kuhuwael Irawan Yusuf

Background: Inherited hearing impairment affects about 1 in 1000 newborns. Up to 50 percent of all patients with autosomal recessive nonsyndromic prelingual deafness in many populations have mutations in the gene encoding the gap junction protein connexin 26 (GJB2) at locus DFNB1 (autosomal recessive nonsyndromic deafness) on chromosome 13q11-12. In East Asia, there is a common mutation (235del...

ابهجی, مریم, اسمیت, ریچارد, بزاز زادگان, نیلوفر, جوان, محمد خلیل, خدایی, حسین, دهقانی, عاطفه, ریاض الحسینی, یاسر, سیفتی, مرتضی, مغنی باشی, مهدی, میراب, محمود, نجم آبادی, حسین, کهریزی, کیمیا,

Introduction: Hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. Most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (NSHL). Mutations in GJB2 gene are major cause of inherited deafness in the European an...

2017
Francisco J. del Castillo Ignacio del Castillo

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 physiological support to sensory hair cells and of maintaining cochlear homeostasis. Appropriately enough, the gene most commonly mutated among subje...

Journal: :The Laryngoscope 2006
Evan J Propst Susan Blaser Tracy L Stockley Robert V Harrison Karen A Gordon Blake C Papsin

OBJECTIVE To describe temporal bone findings on computed tomography (CT) imaging in GJB2-related hearing loss (HL). We asked whether evaluation of the temporal bone is required in individuals with biallelic GJB2 mutations. STUDY DESIGN Randomized, blinded, controlled, prospective measurement. METHODS Blood from 264 pediatric cochlear implant users was analyzed for mutations in the GJB2 gene...

زمانی, محمد, دانشی, احمد, ریاض‌الحسینی, یاسر, ریحانی‌فر, فرحناز, نجم‌آبادی, حسین, کهریزی, کیمیا, محسنی, مرضیه ,

    Background & Aim: Hereditary hearing loss(HHL) affects one in 1000-2000 newborns and more than 50% of these cases have a genetic base. About 70% of HHL are nonsyndromic with autosomal recessive forms accounting for 85% of the genetic load. Different genes have been reported to be involved, but mutations in GJB2 gene at DFNB1 locus have been established as the basis of autosomal recessive no...

Journal: :iranian journal of public health 0
m hashemzadeh chaleshtori 1cellular and molecular research center, shahrekord university of medical sciences, shahrekord, iran dd farhud genetic clinic, valie asr sq., 16 keshavarz blvd., tehran, iran ah crosby dept. of medical genetics, st georges hospital medical school, university of london, london, uk e farrokhi cellular and molecular research center, shahrekord university of medical sciences, shahrekord, iran h pour jafari dept. of genetics, school of medicine, hamadan university of medical sciences, hamadan, iran k ghatreh samani dept. of clinical chemistry, tabriz university of medical sciences, tabriz, iran

background: mutations of gjb2 gene encoding connexion 26 are the most common cause of hearing loss in many popula­tions. a very wide spectrum of gjb2 gene mutations associated with hearing loss have been detected but pathogenic role has been tested only for a part of them. in this study, we have provided genetic evidence on the pathogenicity of our previ­ously reported novel gjb2 allelic varian...

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