Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

Suppr

超能文献

作者信息

Liu X Z, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel K P, Brown S D

出版信息

Nat Genet. 1997 Nov;17(3):268-9. doi: 10.1038/ng1197-268.

DOI:10.1038/ng1197-268

PMID:9354784

Abstract

摘要

相似文献

Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

Nat Genet. 1997 Nov;17(3):268-9. doi: 10.1038/ng1197-268.

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

Exp Eye Res. 2000 Aug;71(2):173-81. doi: 10.1006/exer.2000.0863.

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.

Eur J Hum Genet. 2008 Jan;16(1):89-96. doi: 10.1038/sj.ejhg.5201917. Epub 2007 Sep 12.

A novel type of myosin encoded by the mouse deafness gene shaker-2.

Biochem Biophys Res Commun. 1998 Jul 30;248(3):655-9. doi: 10.1006/bbrc.1998.8976.

Screen for usher syndrome 1B mutations in the ovine myosin VIIa gene.

Adv Exp Med Biol. 2003;533:151-5. doi: 10.1007/978-1-4615-0067-4_19.

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Hum Genet. 2004 Jul;115(2):149-56. doi: 10.1007/s00439-004-1137-3. Epub 2004 Jun 2.

The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.

Genomics. 1999 Jul 15;59(2):150-60. doi: 10.1006/geno.1999.5867.

Dominant-negative I(Ks) suppression by KCNQ1-deltaF339 potassium channels linked to Romano-Ward syndrome.

Cardiovasc Res. 2005 Aug 15;67(3):487-97. doi: 10.1016/j.cardiores.2005.05.003.

MYO1F as a candidate gene for nonsyndromic deafness, DFNB15.

Arch Otolaryngol Head Neck Surg. 2001 Aug;127(8):921-5. doi: 10.1001/archotol.127.8.921.

Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

J Med Genet. 1999 Jul;36(7):542-5.

引用本文的文献

NGS-based identification of a MYO7A mutation in a Korean family with DFNB2, a subtype of autosomal recessive non-syndromic hearing loss.

Genes Genomics. 2025 Jun 26. doi: 10.1007/s13258-025-01653-8.

Select autosomal dominant DFNA11 deafness variants activate Myo7A targeting in epithelial cells.

J Cell Sci. 2025 Apr 1;138(7). doi: 10.1242/jcs.263982. Epub 2025 Apr 10.

MYH1 deficiency disrupts outer hair cell electromotility, resulting in hearing loss.

Exp Mol Med. 2024 Nov;56(11):2423-2435. doi: 10.1038/s12276-024-01338-4. Epub 2024 Nov 1.

Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.

Hum Genomics. 2024 Jun 7;18(1):59. doi: 10.1186/s40246-024-00630-8.

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.

Sci Rep. 2024 Apr 9;14(1):8326. doi: 10.1038/s41598-024-57415-1.

Autosomal dominant non-syndromic hearing loss caused by a novel mutation in : A case report and review of the literature.

World J Clin Cases. 2023 Sep 6;11(25):5962-5969. doi: 10.12998/wjcc.v11.i25.5962.

The applications of CRISPR/Cas-mediated genome editing in genetic hearing loss.

Cell Biosci. 2023 May 20;13(1):93. doi: 10.1186/s13578-023-01021-7.

Mechanoelectrical transduction-related genetic forms of hearing loss.

Curr Opin Physiol. 2023 Apr;32. doi: 10.1016/j.cophys.2023.100632. Epub 2023 Jan 25.

Modelling inner ear development and disease using pluripotent stem cells - a pathway to new therapeutic strategies.

Dis Model Mech. 2022 Nov 1;15(11). doi: 10.1242/dmm.049593. Epub 2022 Nov 4.

Selective binding and transport of protocadherin 15 isoforms by stereocilia unconventional myosins in a heterologous expression system.

Sci Rep. 2022 Aug 12;12(1):13764. doi: 10.1038/s41598-022-17757-0.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验