Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores-Reference-Cited by-同舟云学术

Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores

Published:2021-07-07 Issue: Volume: Page:
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Miyoshi Takushi^ORCID,Belyantseva Inna A.,Kitajiri Shin-ichiro,Miyajima Hiroki,Nishio Shin-ya,Usami Shin-ichi,Kim Bong Jik,Choi Byung Yoon,Omori Koichi,Shroff Hari,Friedman Thomas B.

Funder

National Institute on Deafness and Other Communication Disorders

Japan Society for the Promotion of Science

National Institute of Biomedical Imaging and Bioengineering

The ministry of Health & Welfare, Republic of Korea

SNUBH Intramural research fund

Chungnam National University

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-021-02304-0.pdf

Reference178 articles.

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2. Ahmed ZM, Morell RJ, Riazuddin S, Gropman A, Shaukat S, Ahmad MM, Mohiddin SA, Fananapazir L, Caruso RC, Husnain T, Khan SN, Riazuddin S, Griffith AJ, Friedman TB, Wilcox ER (2003a) Mutations of MYO6 are associated with recessive deafness, DFNB37. Am J Hum Genet 72:1315–1322. https://doi.org/10.1086/375122

3. Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER (2003b) PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet 12:3215–3223. https://doi.org/10.1093/hmg/ddg358

4. Alderson-Day B, Fernyhough C (2015) Inner speech: development, cognitive functions, phenomenology, and neurobiology. Psychol Bull 141:931–965. https://doi.org/10.1037/bul0000021

5. Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM (2016) Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. Am J Med Genet A 170A:435–440. https://doi.org/10.1002/ajmg.a.37422

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