Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
about
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 FOXI1Autosomal recessive nonsyndromic deafness genes: a reviewSLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueductSLC26A4 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 deafnessTranscriptional 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 genesDomain requirements and sequence specificity of DNA binding for the forkhead transcription factor FOXP3Forty-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 genotypesDiverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing studyExploration 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 aqueductsMutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution meltingHearing 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 subjectsSLC26A4 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 approachIdentification 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 EVAIdentification 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 geneticsMutations 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 HansMolecular 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.
P2860
Q21092146-F8784B82-3BDF-4136-A4CF-1CBFE9CD48D0Q21093625-A91C3B95-76A8-48B8-BA49-691844AEB67AQ24611997-C938ECF0-79B6-43C9-9219-80580290216AQ27010177-D7C75B43-2D56-41A3-A97C-267BF4D5E960Q27321123-E8F26C11-3F8E-430B-9F86-A0FB3F787795Q30362427-8A072324-3295-48EE-ABAE-2FE2F46357CBQ30366260-F10935A3-46A8-4EFC-B010-D5F664DBCBAEQ30401498-5A5CC26D-B3F2-4CF9-98C9-C188534C7FA1Q30451829-23E72838-6078-4A95-8AE6-B5B814AE20C3Q30451832-745B410D-E0BD-416E-8E4A-559A1C915ADFQ30455691-7225C0FB-2CAB-49C5-98DB-63422C9211EAQ30470095-815D3919-AAB5-4795-B480-7788A7F686AFQ30482629-8A6C96E0-9E1C-4594-B95B-F1543815FDC7Q33517120-2F2FC8C3-6AA3-4F98-BFB7-BE1DD661EB4DQ33762894-7932B270-226C-4953-A253-BD310C3DBC79Q33847686-22CC1A67-FCD7-4A4E-B8EE-AD4C23341DD3Q33963081-59FC4A3F-A8A2-4D5C-A758-9AB00AFD8C98Q34083487-1FE3DE04-DCDB-4AD8-8638-FAD58948415FQ34137666-EB71ED97-D57E-4A88-990F-4FFF5C485F25Q34508656-80DA629A-9F59-421F-943A-45C218919B7AQ34568122-FACCF7E7-45BA-4CFC-8810-C4E2429108F7Q34960772-BB166DD8-96A7-4244-AF12-F6457A18F6ECQ35069947-8067D463-AF3A-4CED-BDE4-6711377089C5Q35243789-7B22D871-8C42-4805-B1C8-36B6D9903DF5Q35395518-43ADCFB5-EECA-4B62-B883-010632F79028Q35581240-DB9E5D56-3D84-41EA-9CBF-4C586B723AEDQ35906077-B81911F1-78A2-462E-9F7F-74029B49C07BQ36123225-FAE83B3A-2568-463B-9803-A044855946F3Q36300634-A08B3DA6-4CA7-4F8E-B429-2F511977C393Q36444641-A3F8D90D-E4F3-4724-A211-1C3FC5AE8C6CQ36818501-3FF76761-E4DF-442C-BD36-10D600992431Q36976334-330466EB-7A04-45CA-925A-3446E9D70976Q37005267-2CCA316F-80F0-43FA-AC24-6C72E80D3B84Q37144696-2CE85003-D7B5-4E15-A85F-D675DA30C75CQ37185089-B4B97483-7D55-4417-9F8F-9AECE8405DD2Q37189151-1A9C923D-5D32-44A2-80CA-B61DF1F6187AQ37526998-75B298E8-69B0-48FD-8957-CDD1284B98DEQ37960781-C690C301-2861-414A-9940-EC46A272B85EQ37979920-DBA7B10C-5537-4BEC-B8DA-1C74C6F9FD74Q38214755-68F5A647-0B9D-4181-A709-8FFFF7E95A71
P2860
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
name
Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)
@ast
Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)
@en
Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)
@nl
type
label
Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)
@ast
Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)
@en
Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)
@nl
prefLabel
Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)
@ast
Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)
@en
Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)
@nl
P2093
P2860
P356
P1476
Transcriptional control of SLC ...... of vestibular aqueduct (DFNB4)
@en
P2093
Hilmar Vidarsson
Richard J H Smith
Sally S Rosengren
Sandra Rodrigo-Blomqvist
Sven Enerback
P2860
P304
P356
10.1086/518314
P407
P577
2007-06-01T00:00:00Z