Article
c-Ret-mediated hearing loss in mice with Hirschsprung disease.
Proceedings of the National Academy of Sciences of the United States of America - 20 Jul 2010
Ohgami Nobutaka, Ida-Eto Michiru, Shimotake Takashi, Sakashita Naomi, Sone Michihiko, Nakashima Tsutomu, Tabuchi Keiji, Hoshino Tomofumi, Shimada Atsuyoshi, Tsuzuki Toyonori, Yamamoto Masahiko, Sobue Gen, Jijiwa Mayumi, Asai Naoya, Hara Akira, Takahashi Masahide, Kato Masashi
Abstract excerpt
A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease (HSCR) caused by endothelin receptor type B and SOX10 has been reported. Despite the fact that c-RET is the most frequent causal gene of HSCR, it has not been determined whether impairments of c-Ret and c-RET cause congenital deafness in mice and humans. Here, we show that impaired phosphorylation of c-Ret...
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