Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86-Reference-Cited by-同舟云学术

Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

Published:2014-01 Issue:1 Volume:94 Page:144-152
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Rehman Atteeq U.,Santos-Cortez Regie Lyn P.,Morell Robert J.,Drummond Meghan C.,Ito Taku,Lee Kwanghyuk,Khan Asma A.,Basra Muhammad Asim R.,Wasif Naveed,Ayub Muhammad,Ali Rana A.,Raza Syed I.,Nickerson Deborah A.,Shendure Jay,Bamshad Michael,Riazuddin Saima,Billington Neil,Khan Shaheen N.,Friedman Penelope L.,Griffith Andrew J.,Ahmad Wasim,Riazuddin Sheikh,Leal Suzanne M.,Friedman Thomas B.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference37 articles.

1. Function and expression pattern of nonsyndromic deafness genes;Hilgert;Curr. Mol. Med.,2009

2. Autosomal recessive nonsyndromic deafness genes: a review;Duman;Front Biosci (Landmark Ed),2012

3. How the genetics of deafness illuminates auditory physiology;Richardson;Annu. Rev. Physiol.,2011

4. Actin in hair cells and hearing loss;Drummond;Hear. Res.,2012

5. Sensing sound: molecules that orchestrate mechanotransduction by hair cells;Kazmierczak;Trends Neurosci.,2012

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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. Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades;Journal of Cellular and Molecular Medicine;2024-03-27

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