نتایج جستجو برای: gjb2 gene

تعداد نتایج: 1141753  

Journal: :International journal of pediatric otorhinolaryngology 2013
Gabrielle N Manzoli Kiyoko Abe-Sandes Alan H Bittles Danniel S D da Silva Luciene da C Fernandes Roberta M C Paulon Iza Cristina S de Castro Carla M C A Padovani Angelina X Acosta

OBJECTIVE There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology. METHODS The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletion...

2013
Borum Sagong Jeong-In Baek Se-Kyung Oh Kyung Jin Na Jae Woong Bae Soo Young Choi Ji Yun Jeong Jae Young Choi Sang-Heun Lee Kyu-Yup Lee Un-Kyung Kim

Hearing loss (HL) is a congenital disease with a high prevalence, and patients with hearing loss need early diagnosis for treatment and prevention. The GJB2, MT-RNR1, and SLC26A4 genes have been reported as common causative genes of hearing loss in the Korean population and some mutations of these genes are the most common mutations associated with hearing loss. Accordingly, we developed a meth...

Journal: :Journal of medical genetics 2004
J E A Common W-L Di D Davies D P Kelsell

G ap junctions composed of connexins (Cx) are intercellular channels that provide a mechanism of synchronised cellular response facilitating the metabolic and electronic functions of the cell. At least 20 human Cx genes have been described, many of which harbour germline mutations that are associated with a variety of human diseases. Recessive mutations in the coding region of GJB2 encoding Cx2...

Journal: یافته 2007
ahmad Daneshi , hosein Najmabadi , kimia Kahrizi , marziye Mohseni , mitra Sapahvand , niloofar Bazazzadegan, yaser Riazalhosseini,

Background: Congenital hearing loss due to different genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. Materials and methods: The aim of this study was to study the frequency of GJB2 Mutations in Lor...

2017
Liangpu Xu Yan Wang Hailong Huang Na Lin Deqin He Min Zhang Meihuan Chen Yuan Lin

To analyze the mutations of deaf-related gene among pregnant women in Fujian province of South China and provide a prenatal diagnosis system for their families. 2000 peripheral blood of pregnant women in Fujian province of South China was collected, and the genetic mutations of four common deafness genes (GJB2, SLC26A4, mitochondrial 12SrRNA and GJB3) were detected by using hereditary deafness ...

Journal: :iranian journal of public health 0
a hosseinipour m hashemzadeh chaleshtori r sasanfar dd farhud a tolooi m doulati

autosomal recessive and sporadic non-syndromic hearing loss (arsnshl) is the major form of hereditary deafness.mutations in the gjb2 gene encoding the gap-junction protein connexin 26 have been identified to be highly associated with arsnshl. in this study we have analyzed 196 deaf subjects from 179 families having one or more deaf children in 3 proviences of iran, including kordestan, khuzesta...

Journal: :iranian journal of biotechnology 2009
abdorrahim sadeghi mohammad hossein sanati fatemeh alasti morteza hashemzadeh chaleshtori saeid mahmoudian

this study aimed to investigate the contribution of four common dfnb (“dfn” for deafness and “b” for autosomal resessive locus) loci and gjb2 gene mutations (exon 2) in hearing impairment in individuals living in markazi and qom provinces of iran. forty consanguineous iranian families with at least three affected individuals in family or pedigree who suffer from an autosomal recessive non-syndr...

Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...

Journal: :JAMA dermatology 2015
Jonathan L Levinsohn Jennifer M McNiff Richard J Antaya Keith A Choate

IMPORTANCE Recent data demonstrated somatic mutations in GJB2 that were present in affected porokeratotic eccrine ostial and dermal duct nevus (PEODDN) tissue but absent in unaffected skin. Recognizing that PEODDN lesions can also appear in individuals with keratitis-ichthyosis-deafness syndrome and finding somatic mutations in their cohort, the authors concluded that somatic GJB2 mutation may ...

2016
Kari L. Green Donald L. Swiderski Diane M. Prieskorn Susan J. DeRemer Lisa A. Beyer Josef M. Miller Glenn E. Green Yehoash Raphael

Dietary supplements consisting of beta-carotene (precursor to vitamin A), vitamins C and E and the mineral magnesium (ACEMg) can be beneficial for reducing hearing loss due to aminoglycosides and overstimulation. This regimen also slowed progression of deafness for a boy with GJB2 (CONNEXIN 26) mutations. To assess the potential for treating GJB2 and other forms of hereditary hearing loss with ...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید