Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4) - Test2 - elhamkhani - TriplyDB

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

http://www.wikidata.org/entity/Q24670174

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The forkhead transcription factor Foxi1 is a master regulator of vacuolar H-ATPase proton pump subunits in the inner ear, kidney and epididymis.African signatures of recent positive selection in human FOXI1 Autosomal recessive nonsyndromic deafness genes: a review SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice.Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.The role of foxi family transcription factors in the development of the ear and jaw.Integration of human and mouse genetics reveals pendrin function in hearing and deafness Transcriptional regulation of the pendrin gene.Etiology and audiological outcomes at 3 years for 364 children in Australia.Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.Function and expression pattern of nonsyndromic deafness genes Domain requirements and sequence specificity of DNA binding for the forkhead transcription factor FOXP3 Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?Early investigational drugs for hearing loss.Ephrin-B2 governs morphogenesis of endolymphatic sac and duct epithelia in the mouse inner ear.Methylation of the human pendrin promoter.Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects SLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct.Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Digenic inheritance in medical genetics Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans Molecular and functional characterization of human pendrin and its allelic variants.Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.

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P2860

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

http://www.wikidata.org/entity/Q24670174

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2007 nî lūn-bûn

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2007 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2007 թվականի հունիսին հրատարակված գիտական հոդված

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2007年の論文

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)

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Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)

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Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)

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Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)

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Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)

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Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)

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Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)

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Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)

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Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)

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Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)

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Hilmar Vidarsson

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Richard J H Smith

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Sally S Rosengren

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Sandra Rodrigo-Blomqvist

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Sven Enerback

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Tao Yang

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P2860

Structure of the forkhead domain of FOXP2 bound to DNA

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

Expression of pendrin and the Pendred syndrome (PDS) gene in human thyroid tissues

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

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

A mutation in PDS causes non-syndromic recessive deafness

Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice

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1055-63

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6

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80

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17503324

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1867094

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