Constitutive activation of DIA1 (DIAPH1) via C‐terminal truncation causes human sensorineural hearing loss

DIAPH1 encodes human DIA1, a formin protein that elongates unbranched actin. The c.3634+1G>T DIAPH1 mutation causes autosomal dominant nonsyndromic sensorineural hearing loss, DFNA1, characterized by progressive deafness starting in childhood. The mutation occurs near the C‐terminus of the diapha...

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Pubblicato in:EMBO Mol Med
Autori principali: Ueyama, Takehiko, Ninoyu, Yuzuru, Nishio, Shin‐ya, Miyoshi, Takushi, Torii, Hiroko, Nishimura, Koji, Sugahara, Kazuma, Sakata, Hideaki, Thumkeo, Dean, Sakaguchi, Hirofumi, Watanabe, Naoki, Usami, Shin‐ichi, Saito, Naoaki, Kitajiri, Shin‐ichiro
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2016
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Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5090661/
https://ncbi.nlm.nih.gov/pubmed/27707755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201606609
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