A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? - Wikidata - awgldk - TriplyDB

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

http://www.wikidata.org/entity/Q28207515

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Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)Molecular epidemiology of DFNB1 deafness in France The role of connexins in ear and skin physiology - functional insights from disease-associated mutations Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854)Genetics of auditory mechano-electrical transduction.Modifiers of hearing impairment in humans and mice.Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.Strain background effects and genetic modifiers of hearing in mice.Saturation of the human phenome Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.A novel missense mutation in the connexin30 causes nonsyndromic hearing loss.A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30 Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria.Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.Connexins in hearing loss: a comprehensive overview.Deaf genetic testing and psychological well-being in deaf adults.Digenic inheritance in medical genetics Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.Deafness genes in Israel: implications for diagnostics in the clinic.Connexin-Mediated Signaling in Nonsensory Cells Is Crucial for the Development of Sensory Inner Hair Cells in the Mouse Cochlea.Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall.Super-resolution structured illumination fluorescence microscopy of the lateral wall of the cochlea: the Connexin26/30 proteins are separately expressed in man.Human diseases associated with connexin mutations.Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.Infant hearing loss and connexin testing in a diverse population.Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss.

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A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

http://www.wikidata.org/entity/Q28207515

description

2002 nî lūn-bûn

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2002 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2002 թվականի հունվարին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

A large deletion including mos ...... ic deafness: a digenic effect?

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A large deletion including mos ...... ic deafness: a digenic effect?

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A large deletion including mos ...... ic deafness: a digenic effect?

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A large deletion including mos ...... ic deafness: a digenic effect?

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A large deletion including mos ...... ic deafness: a digenic effect?

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A large deletion including mos ...... ic deafness: a digenic effect?

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A large deletion including mos ...... ic deafness: a digenic effect?

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A large deletion including mos ...... ic deafness: a digenic effect?

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A large deletion including mos ...... ic deafness: a digenic effect?

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SJ.EJHG.5200762

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European Journal of Human Genetics

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A large deletion including mos ...... ic deafness: a digenic effect?

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P2093

Anne-Francoise Roux

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Michel Mondain

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Nathalie Pallares-Ruiz

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Patricia Blanchet

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P2860

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

Expression of the gap-junction connexins 26 and 30 in the rat cochlea

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

The gap junction communication channel.

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sj.ejhg.5200762

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scholarly article

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4933953

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10.1038/SJ.EJHG.5200762

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1

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10

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Mireille Claustres

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2002-01-01T00:00:00Z

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11467998

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11896458

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