A Dominant Mutation in the Stereocilia-Expressing GeneTBC1D24is a Probable Cause for Nonsyndromic Hearing Impairment-Reference-Cited by-同舟云学术

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A Dominant Mutation in the Stereocilia-Expressing GeneTBC1D24is a Probable Cause for Nonsyndromic Hearing Impairment

Published:2014-05-06 Issue:7 Volume:35 Page:814-818
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zhang Luping¹²³,Hu Lingxiang¹²,Chai Yongchuan¹²,Pang Xiuhong¹²,Yang Tao¹²,Wu Hao¹²

Affiliation:

1. Department of Otolaryngology-Head and Neck Surgery; Xinhua Hospital, Shanghai Jiaotong University School of Medicine; Shanghai China

2. Ear Institute; Shanghai Jiaotong University School of Medicine; Shanghai China

3. Department of Otolaryngology-Head and Neck Surgery; Affiliated Hospital of Nantong University; Jiangsu China

Funder

National Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22558/fullpdf

Reference11 articles.

1. DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3;Ali;Clin Genet,2012

2. The genetic basis of DOORS syndrome: an exome-sequencing study;Campeau;Lancet Neurol,2014

3. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24;Corbett;Am J Hum Genet,2010

4. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy;Falace;Am J Hum Genet,2010

5. TBC1D24 truncating mutation resulting in severe neurodegeneration;Guven;J Med Genet,2013

Cited by 45 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. Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants;Journal of Biological Chemistry;2024-08

2. TBC1D24 is likely to regulate vesicle trafficking in glia-like non-sensory epithelial cells of the cochlea;The International Journal of Developmental Biology;2024-06-11

3. Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss;Medicine;2024-04-19

4. Ursids evolved dietary diversity without major alterations in metabolic rates;Scientific Reports;2024-02-27

5. Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss;Scientific Reports;2024-02-27

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