C-Ret-mediated hearing losses

Nobutaka Ohgami, Haruka Tamura, Kyoko Ohgami, Machiko Iida, Ichiro Yajima, Mayuko Y. Kumasaka, Yuji Goto, Michihiko Sone, Tsutomu Nakashima, Masashi Kato

研究成果: Review article査読

3 被引用数 (Scopus)


About 120 million people worldwide suffer from congenital (early-onset) hearing loss. Thirty percent of them have syndromic hearing loss and the remaining 70% have non-syndromic hearing loss. In addition, a large number of elderly people worldwide suffer from age-related (late-onset) hearing loss. c-Ret and c-RET have been shown to be essential for the development and maintenance of neurons including the enteric nervous system (ENS) in mice and humans. Impairments of endothelin receptor B (EDNRB) and SOX10 have been shown to cause a significantly increased risk of dominant sensorineural deafness in Hirschsprung disease (HSCR) patients. We have recently shown that impairments of tyrosine 1062 (Y1062) phosphorylation in c-Ret causes syndromic congenital deafness in mice and humans and non-syndromic age-related hearing loss with neurodegeneration of spiral ganglion neurons (SGNs) in mice. This review focuses on the pathogenesis of hearing loss caused by impairments of c-Ret.

ジャーナルInternational Journal of Clinical and Experimental Pathology
出版ステータスPublished - 2012

ASJC Scopus subject areas

  • 病理学および法医学
  • 組織学


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