نتایج جستجو برای: gjb2 gene

تعداد نتایج: 1141753  

Journal: :General physiology and biophysics 2003
G Minárik V Ferák E Feráková A Ficek H Poláková L Kádasi

Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSHL) worldwide. In most Caucasian populations, the 35delG mutation in this gene was found to account for up to 50% of cases of the genetic non-syndromic childhood deafness. In populations of non-European ethnic background, other GJB2 gene mutations are occasionally common, e.g. 1...

Journal: :The journal of international advanced otology 2015
Sevcan Tuğ Bozdoğan Gökhan Kuran Özge Özalp Yüregir Hüseyin Aslan Süheyl Haytoğlu Akif Ayaz Osman Kürşat Arıkan

OBJECTIVE To date, studies in all populations showed that mutations in the gene of Gap junction protein beta 2 (GJB2) play an important role in non-syndromic autosomal recessive congenital hearing loss. The aim of this study was to evaluate GJB2 gene of patients with hearing loss in our region using deoxyribonucleic acid (DNA) sequencing method and to demonstrate region-specific mutation and po...

Journal: :The Laryngoscope 2007
Hela Azaiez Richard J H Smith

We read with interest the paper by Propst et al.1 concerning temporal bone imaging by computed tomography (CT) in patients with GJB2-related deafness. The GJB2 gene, encoding the connexin 26 protein, which is involved in gap junction formation, has been found to be the most common cause of autosomal recessive nonsyndromic sensorineural hearing loss (SNHL) in numerous world populations.2 Several...

2012
Jennifer A Easton Steven Donnelly Miriam A F Kamps Peter M Steijlen Patricia E Martin Gianluca Tadini René Janssens Rudolf Happle Michel van Geel Maurice A M van Steensel

Porokeratotic eccrine ostial and dermal duct nevus, or porokeratotic eccrine nevus (PEN), is a hyperkeratotic epidermal nevus. Several cases of widespread involvement have been reported, including one in association with the keratitis-ichthyosis-deafness (KID) syndrome (OMIM #148210), a rare disorder caused by mutations in the GJB2 gene coding for the gap junction protein connexin26 (Cx26). The...

Journal: :iranian journal of public health 0
marjan masoudi najmeh ahangari ali akbar poursadegh zonouzi ahmad poursadegh zonouzi *azim nejatizadeh

background: autosomal recessive non-syndromic hearing loss (arnshl) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity. so far, more than seventy various dfnb loci have been mapped for arnshl by linkage analysis. the contribution of three common dfnb loci including dfnb3, dfnb9, dfnb21 and gap junction beta-2 (gjb2) gene mutations in arnshl was in...

2011
Masoud Motasaddi Zarandy Mersedeh Rohanizadegan Hojjat Salmasian Nooshin Nikzad Niloofar Bazazzadegan Mahdi Malekpour

Clinical application of mutation screening and its effect on the outcome of cochlear implantation is widely debated. We investigated the effect of mutations in GJB2 gene on the outcome of cochlear implantation in a population with a high rate of consanguineous marriage and autosomal recessive nonsyndromic hearing loss. Two hundred and one children with profound prelingual sensorineural hearing ...

Journal: :Human molecular genetics 1997
L Zelante P Gasparini X Estivill S Melchionda L D'Agruma N Govea M Milá M D Monica J Lutfi M Shohat E Mansfield K Delgrosso E Rappaport S Surrey P Fortina

Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci. Recently we demonstrated that DFNB1, located on the long arm of chromosome 13, accounts for approximately 80% of cases in the Mediterranean area. Further analysis with additional markers now identifies several recombinants which na...

2000
Laurette Morlé Muriel Bozon Nicole Alloisio Philippe Latour Antoon Vandenberghe Henri Plauchu Lionel Collet Patrick Edery Jacqueline Godet Geneviève Lina-Granade

Mutations in the GJB2 gene encoding connexin26 (CX26) account for up to 50% of cases of autosomal recessive hearing loss. In contrast, only one GJB2 mutation has been reported to date in an autosomal dominant form of isolated prelingual hearing loss. We report here a novel heterozygous 605G→T mutation in GJB2 in all aVected members of a large family with late childhood onset of autosomal domina...

Mutations in the connexin 26 (Cx26) gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non-syndromic hearing loss (ARNSHL). There are many known mutations in this gene that cause hearing loss. A single frameshift, at position 35 (35delG) accounts for 50% of mutations in the Caucasian population with carrier frequencies of 1.5-2.5%. In this study we investigated ...

Journal: :Journal of medical genetics 2000
L Morlé M Bozon N Alloisio P Latour A Vandenberghe H Plauchu L Collet P Edery J Godet G Lina-Granade

Mutations in the GJB2 gene encoding connexin26 (CX26) account for up to 50% of cases of autosomal recessive hearing loss. In contrast, only one GJB2 mutation has been reported to date in an autosomal dominant form of isolated prelingual hearing loss. We report here a novel heterozygous 605G-->T mutation in GJB2 in all affected members of a large family with late childhood onset of autosomal dom...

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