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Variants of human CLDN9 cause mild to profound hearing loss.
Ramzan M, Philippe C, Belyantseva IA, Nakano Y, Fenollar-Ferrer C, Tona R, Yousaf R, Basheer R, Imtiaz A, Faridi R, Munir Z, Idrees H, Salman M, Nambot S, Vitobello A, Kartti S, Zarrik O, Witmer PD, Sobreria N, Ibrahimi A, Banfi B, Moutton S, Friedman TB, Naz S. Ramzan M, et al. Among authors: banfi b. Hum Mutat. 2021 Oct;42(10):1321-1335. doi: 10.1002/humu.24260. Epub 2021 Aug 1. Hum Mutat. 2021. PMID: 34265170 Free PMC article.
A claudin-9-based ion permeability barrier is essential for hearing.
Nakano Y, Kim SH, Kim HM, Sanneman JD, Zhang Y, Smith RJ, Marcus DC, Wangemann P, Nessler RA, Bánfi B. Nakano Y, et al. Among authors: banfi b. PLoS Genet. 2009 Aug;5(8):e1000610. doi: 10.1371/journal.pgen.1000610. Epub 2009 Aug 21. PLoS Genet. 2009. PMID: 19696885 Free PMC article.
The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
Tona R, Chen W, Nakano Y, Reyes LD, Petralia RS, Wang YX, Starost MF, Wafa TT, Morell RJ, Cravedi KD, du Hoffmann J, Miyoshi T, Munasinghe JP, Fitzgerald TS, Chudasama Y, Omori K, Pierpaoli C, Banfi B, Dong L, Belyantseva IA, Friedman TB. Tona R, et al. Among authors: banfi b. Hum Mol Genet. 2019 May 1;28(9):1530-1547. doi: 10.1093/hmg/ddy445. Hum Mol Genet. 2019. PMID: 30602030 Free PMC article.
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