Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss-Reference-Cited by-同舟云学术

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss

Published:2018-06-07 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Dantas Vitor G. L.,Raval Manmeet H.,Ballesteros Angela^ORCID,Cui Runjia,Gunther Laura K.,Yamamoto Guilherme L.,Alves Leandro Ucela,Bueno André Silva,Lezirovitz Karina^ORCID,Pirana Sulene,Mendes Beatriz C. A.,Yengo Christopher M.,Kachar Bechara,Mingroni-Netto Regina C.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-26818-2.pdf

Reference52 articles.

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2. Guilford, P. et al. A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature genetics 6, 24–28, https://doi.org/10.1038/ng0194-24 (1994).

3. Walsh, T. et al. From flies’ eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30. Proceedings of the National Academy of Sciences of the United States of America 99, 7518–7523, https://doi.org/10.1073/pnas.102091699 (2002).

4. Montell, C. & Rubin, G. M. The Drosophila ninaC locus encodes two photoreceptor cell specific proteins with domains homologous to protein kinases and the myosin heavy chain head. Cell 52, 757–772 (1988).

5. Porter, J. A., Hicks, J. L., Williams, D. S. & Montell, C. Differential localizations of and requirements for the two Drosophila ninaC kinase/myosins in photoreceptor cells. The Journal of cell biology 116, 683–693 (1992).

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