Missense mutations inPOU4F3cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding-Reference-Cited by-同舟云学术

Missense mutations inPOU4F3cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

Published:2008-01-28 Issue:4 Volume:29 Page:545-554
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Collin Rob W.J.,Chellappa Ramesh,Pauw Robert-Jan,Vriend Gert,Oostrik Jaap,van Drunen Wendy,Huygen Patrick L.,Admiraal Ronald,Hoefsloot Lies H.,Cremers Frans P.M.,Xiang Mengqing,Cremers Cor W.R.J.,Kremer Hannie

Funder

Heinsius Houbolt Foundation

European Commission FP6 Integrated Project EUROHEAR

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference41 articles.

1. Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss;Alloisio;Eur J Hum Genet,1999

2. DFNA15;Avraham;Adv Otorhinolaryngol,2000

3. Alpha-tectorin involvement in hearing disabilities: one gene-two phenotypes;Balciuniene;Hum Genet,1999

4. The use of position-specific rotamers in model building by homology;Chinea;Proteins,1995

5. Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity;Clough;Biochem Biophys Res Commun,2004

Cited by 61 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The transcription factor Pou4f3 is essential for the survival of postnatal and adult mouse cochlear hair cells and normal hearing;Frontiers in Cellular Neuroscience;2024-03-19

2. Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects;Scientific Reports;2023-08-03

3. Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review;Biomedicines;2023-06-01

4. Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses;European Journal of Human Genetics;2023-04-19

5. Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38;Genes;2023-02-10