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Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation.
Hum Mol Genet. 2009 Aug 1;18(15):2748-60. doi: 10.1093/hmg/ddp210. Epub 2009 May 3.
Hum Mol Genet. 2009.
PMID: 19414487
Free PMC article.
The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.
Geng R, Melki S, Chen DH, Tian G, Furness DN, Oshima-Takago T, Neef J, Moser T, Askew C, Horwitz G, Holt JR, Imanishi Y, Alagramam KN.
Geng R, et al.
J Neurosci. 2012 Jul 11;32(28):9485-98. doi: 10.1523/JNEUROSCI.0311-12.2012.
J Neurosci. 2012.
PMID: 22787034
Free PMC article.
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Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome.
Dulon D, Papal S, Patni P, Cortese M, Vincent PF, Tertrais M, Emptoz A, Tlili A, Bouleau Y, Michel V, Delmaghani S, Aghaie A, Pepermans E, Alegria-Prevot O, Akil O, Lustig L, Avan P, Safieddine S, Petit C, El-Amraoui A.
Dulon D, et al.
J Clin Invest. 2018 Aug 1;128(8):3382-3401. doi: 10.1172/JCI94351. Epub 2018 Jul 9.
J Clin Invest. 2018.
PMID: 29985171
Free PMC article.
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