Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Cyclic AMP (cAMP) production, which is important for mechanotransduction within the inner ear, is catalyzed by adenylate cyclases (AC). However, knowledge of the role of ACs in hearing is limited. Previously, a novel autosomal recessive non-syndromic hearing impairment locus DFNB44 was mapped to chr...

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Main Authors: Santos-Cortez, Regie Lyn P., Lee, Kwanghyuk, Giese, Arnaud P., Ansar, Muhammad, Amin-Ud-Din, Muhammad, Rehn, Kira, Wang, Xin, Aziz, Abdul, Chiu, Ilene, Hussain Ali, Raja, Smith, Joshua D., Shendure, Jay, Bamshad, Michael, Nickerson, Deborah A., Ahmed, Zubair M., Ahmad, Wasim, Riazuddin, Saima, Leal, Suzanne M.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4030782/
https://ncbi.nlm.nih.gov/pubmed/24482543
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu042
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