Literature DB >> 8776603

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6.

M E O'Neill1, J Marietta, D Nishimura, S Wayne, G Van Camp, L Van Laer, C Negrini, E R Wilcox, A Chen, K Fukushima, L Ni, V C Sheffield, R J Smith.   

Abstract

Late-onset non-syndromic hearing impairment is the most common type of neurological dysfunction in the elderly. It can be either acquired or inherited, although the relative impact of heredity on this type of loss is not known. To date, nine different genes have been localized, but none has been cloned. Using an extended American family in which a gene for autosomal dominant late-onset non-syndromic hearing impairment is segregating, we have identified a new locus, DFNA10, on chromosome 6.

Entities:  

Mesh：

Year:  1996        PMID： 8776603     DOI： 10.1093/hmg/5.6.853

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  11 in total

1.  A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

Authors:  K Fukushima; N Kasai; Y Ueki; K Nishizaki; K Sugata; S Hirakawa; A Masuda; M Gunduz; Y Ninomiya; Y Masuda; M Sato; W T McGuirt; P Coucke; G Van Camp; R J Smith
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

Review 2.  Nonsyndromic hearing impairment: unparalleled heterogeneity.

Authors:  G Van Camp; P J Willems; R J Smith
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

3.  Eya4-deficient mice are a model for heritable otitis media.

Authors:  Frederic F S Depreux; Keith Darrow; David A Conner; Roland D Eavey; M Charles Liberman; Christine E Seidman; J G Seidman
Journal:  J Clin Invest       Date:  2008-02       Impact factor: 14.808

4.  Evidence for gene-smoking interactions for hearing loss and deafness in Japanese American families.

Authors:  Jia Y Wan; Christina Cataby; Andrew Liem; Emily Jeffrey; Trina M Norden-Krichmar; Deborah Goodman; Stephanie A Santorico; Karen L Edwards
Journal:  Hear Res       Date:  2019-12-24       Impact factor: 3.208

5.  A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

Authors:  Suzanne E de Bruijn; Jeroen J Smits; Ronald J E Pennings; Hannie Kremer; Chang Liu; Cornelis P Lanting; Andy J Beynon; Joëlle Blankevoort; Jaap Oostrik; Wouter Koole; Erik de Vrieze; Cor W R J Cremers; Frans P M Cremers; Susanne Roosing; Helger G Yntema; Henricus P M Kunst; Bo Zhao
Journal:  J Med Genet       Date:  2020-07-06       Impact factor: 6.318

6.  A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.

Authors:  Aiping Huang; Yongyi Yuan; Yanping Liu; Qingwen Zhu; Pu Dai
Journal:  J Transl Med       Date:  2015-05-12       Impact factor: 5.531

7.  Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype.

Authors:  Yanfang Mi; Danhua Liu; Beiping Zeng; Yongan Tian; Hui Zhang; Bei Chen; Juanli Zhang; Hong Xue; Wenxue Tang; Yulin Zhao; Hongen Xu
Journal:  Mol Genet Genomic Med       Date:  2020-12-10       Impact factor: 2.183

Review 8.  Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.

Authors:  Sybren M M Robijn; Jeroen J Smits; Kadriye Sezer; Patrick L M Huygen; Andy J Beynon; Erwin van Wijk; Hannie Kremer; Erik de Vrieze; Cornelis P Lanting; Ronald J E Pennings
Journal:  Biomolecules       Date:  2022-01-27

9.  Atypical protein phosphatases: emerging players in cellular signaling.

Authors:  Daichi Sadatomi; Susumu Tanimura; Kei-Ichi Ozaki; Kohsuke Takeda
Journal:  Int J Mol Sci       Date:  2013-02-26       Impact factor: 5.923

10.  Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.

Authors:  Minxing Tan; Xiaofei Shen; Jun Yao; Qinjun Wei; Yajie Lu; Xin Cao; Guangqian Xing
Journal:  Int J Mol Med       Date:  2014-09-19       Impact factor: 4.101
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.