نتایج جستجو برای: gjb2 gene

تعداد نتایج: 1141753  

Journal: :Therapeutics and clinical risk management 2016
Maryam Balali Behnam Kamalidehghan Mohammad Farhadi Fatemeh Ahmadipour Mahmoud Dehghani Ashkezari Mohsen Rezaei Hemami Hossein Arabzadeh Masoumeh Falah Goh Yong Meng Massoud Houshmand

Mitochondrial DNA mutations play an important role in causing sensorineural hearing loss. The purpose of this study was to determine the association of the mitochondrial genes RNR1, MT-TL1, and ND1 as well as the nuclear genes GJB2 and GJB6 with audiological examinations in nonfamilial Iranians with cochlear implants, using polymerase chain reaction, DNA sequencing, and RNA secondary structure ...

Journal: :iranian journal of public health 0
m hashemzadeh chaleshtori dd farhud ma patton

background: mutations in the gjb2 gene encoding connexin 26 protein, are the main cause for autosomal recessive and sporadic non syndromic hearing loss in many populations. here, we have taken together and reviewed results from our six previous publications, our unpublished data from ten iranian provinces, as well as data from two previous mutation reports to provide a comprehensive collection ...

2016
J Xing X Liu Y Tian J Tan H Zhao

Previous studies have linked GJB2 gene and mitochondrial DNA (mtDNA) mutations to nonsyndromic hearing impairment (NSHI), but no study in China has yet investigated these mutations across all age groups. To fill the gap, this study ascertained 263 patients with NSHI between ages 2 months and 60 years and analyzed the presence of GJB2 gene and mtDNA A1555G/C1494T mutations by polymerase chain re...

Amir Abbasi Garmaroudi, Elham Kazemi Rad, Maryam Mirzaei Hotkani, Mohammad Reza Monazzam Esmaeilpoor, Monireh Khadem, Sajjad Mozaffari,

Introduction: One of the most important complications of exposure to noises is changes in the gene expression patterns. Irreversible damage to the inner ear, such as noise-induced hearing loss (NIHL), is caused by tissue damage and changes in the gene expressions in the auditory system. Changes in the GJB2 gene expression pattern lead to autosomal deafness at different loci. The present study a...

2009
Hamid Galehdari Ali Mohammad Foroughmand Maryam Naderi Soorki Gholamreza Mohammadian

BACKGROUND The common GJB2 gene mutation (35delG) has been previously reported from Iranian patients that were affected with nonsyndromic autosomal recessive deafness. We, therefore, for the first time, investigated the prevalence and frequency of the GJB2 gene mutation in the Iranian deaf population with Arabian origins. MATERIALS AND METHODS We amplified and sequenced the entire coding sequ...

ژورنال: پژوهش در پزشکی 2013
زینلی, سیروس, صفری, ناهید, اکبری, بهمن, اکبری, محمدتقی, ربانی, بهاره, شیرکوند, عاطفه, مهدیه, نجات ,

Abstract Background: Sensorineural hearing loss is one of the most common defects and half the cases are related to genetic factors. Given the importance of GJB2 mutations in hearing loss, this study was performed to study the impact of this mutation on hearing loss in selected families suffering from deafness. Materials and Methods: A descriptive study was performed on 8 GJB2 heterozygous ...

Journal: :The Medical journal of Malaysia 2005
B H I Ruszymah I Farah Wahida Y Zakinah Z Zahari M D Norazlinda L Saim B S Aminuddin

Twenty percent of all childhood deafness is due to mutations in the GJB2 gene (Connexin 26). The aim of our study was to determine the prevalence and spectrum of GJB2 mutations in childhood deafness in Malaysia. We analyzed the GJB2 gene in 51 deaf students from Sekolah Pendidikan Khas Alor Setar, Kedah. Bidirectional sequencing indicates that 25% of our childhood deafness has mutation in their...

Journal: :iranian journal of public health 0
"m hashemzadeh chaleshtori m dowlati dd farhud l hoghooghi rad r sasanfar a hoseinipour m montazer zohour

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. in this study we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing method. two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from ...

Journal: :The Medical journal of Malaysia 2011
A Asma A Ashwaq A G Norzana A Maizaton Atmadini B H I Ruszymah L Saim I Farah Wahida

Recently, molecular testing for GJB2 mutations has become the standard of care for the diagnosis of patients with non syndromic hearing impairment of unknown cause. The aims of this study are to determine the association between GJB2 mutation and GJB6 and to report the variation of mutations in deaf students who have heterozygous GJB2. This retrospective study was conducted at Universiti Kebang...

Introduction: Hearing impairment is a complex medical disorder whichhas genetic and non-genetic causes. Gap Junction Protein Beta 2 (GJB2) gene variant is a well-known disease-causing gene among patients with hearing impairment. The frequencies of genetic variants in the GJB2 gene are different in each population. This study aimed to discuss the GJB2 gene status in an Iranian population with he...

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