DFNA15/POU4F3的临床表现。 - Suppr

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The clinical presentation of DFNA15/POU4F3.

作者信息

Gottfried Irit, Huygen Patrick L M, Avraham Karen B

机构信息

Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

出版信息

Adv Otorhinolaryngol. 2002;61:92-7. doi: 10.1159/000066819.

DOI:10.1159/000066819

PMID:12408069

Abstract

摘要

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The clinical presentation of DFNA15/POU4F3.

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相似文献

The clinical presentation of DFNA15/POU4F3.

Adv Otorhinolaryngol. 2002;61:92-7. doi: 10.1159/000066819.

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

Arch Otolaryngol Head Neck Surg. 2008 Mar;134(3):294-300. doi: 10.1001/archotol.134.3.294.

Clinical characterization of genetic hearing loss caused by a mutation in the POU4F3 transcription factor.

Arch Otolaryngol Head Neck Surg. 2000 May;126(5):633-7. doi: 10.1001/archotol.126.5.633.

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

Ann Otol Rhinol Laryngol. 2009 Apr;118(4):313-20. doi: 10.1177/000348940911800413.

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.

PLoS One. 2017 May 17;12(5):e0177636. doi: 10.1371/journal.pone.0177636. eCollection 2017.

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

Science. 1998 Mar 20;279(5358):1950-4. doi: 10.1126/science.279.5358.1950.

Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.

Eur J Med Genet. 2014 Mar;57(4):125-8. doi: 10.1016/j.ejmg.2014.02.006. Epub 2014 Feb 18.

The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity.

Mol Cell Biol. 2003 Nov;23(22):7957-64. doi: 10.1128/MCB.23.22.7957-7964.2003.

DFNA15.

Adv Otorhinolaryngol. 2000;56:107-15. doi: 10.1159/000059091.

Clinical presentation of DFNA8-DFNA12.

Adv Otorhinolaryngol. 2002;61:60-5. doi: 10.1159/000066805.

引用本文的文献

Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.

Biomedicines. 2023 Jun 1;11(6):1616. doi: 10.3390/biomedicines11061616.

Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.

Eur J Hum Genet. 2023 Jul;31(7):815-823. doi: 10.1038/s41431-023-01358-0. Epub 2023 Apr 19.

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.

Hum Mutat. 2008 Apr;29(4):545-54. doi: 10.1002/humu.20693.

The clinical presentation of DFNA15/POU4F3.

作者信息

Gottfried Irit, Huygen Patrick L M, Avraham Karen B

机构信息

Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

出版信息

Adv Otorhinolaryngol. 2002;61:92-7. doi: 10.1159/000066819.

DOI:10.1159/000066819

PMID:12408069

Abstract

摘要