Transcriptional Control of SLC26A4 Is Involved in Pendred Syndrome and Nonsyndromic Enlargement of Vestibular Aqueduct (DFNB4)
- 1 June 2007
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 80 (6), 1055-1063
- https://doi.org/10.1086/518314
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Epididymal expression of the forkhead transcription factor Foxi1 is required for male fertilityThe EMBO Journal, 2006
- Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 AlleleAmerican Journal of Human Genetics, 2006
- Structure of the Forkhead Domain of FOXP2 Bound to DNAStructure, 2006
- The forkhead transcription factor Foxi1 directly activates the AE4 promoterBiochemical Journal, 2005
- Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneityClinical Genetics, 2004
- Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in JapaneseEuropean Journal of Human Genetics, 2003
- Pendred syndrome and DFNB4‐mutation screening of SLC26A4 by denaturing high‐performance liquid chromatography and the identification of eleven novel mutationsAmerican Journal of Medical Genetics Part A, 2003
- Pendred syndrome, DFNB4, andPDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlationsHuman Mutation, 2001
- A mutation in PDS causes non-syndromic recessive deafnessNature Genetics, 1998
- Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)Nature Genetics, 1997