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AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Sperelakis-Beedham B, Lopez M, Bourrat E, Gaitch N, Houriez F, Martinez B, Fajac I, Burgel PR, Hickman G, Audrézet MP, Gonde D, Cabet F, Gerfaud-Valentin M, Nove-Josserand R, Raynal C, Pagin A, Reboul MP, de Becdelièvre A, Bienvenu T, Callebaut I, Girodon E. Sperelakis-Beedham B, et al. Among authors: gaitch n. J Eur Acad Dermatol Venereol. 2023 May;37(5):e654-e657. doi: 10.1111/jdv.18869. Epub 2023 Jan 24. J Eur Acad Dermatol Venereol. 2023. PMID: 36645858 No abstract available.
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, Norez C, Tuffery P, Wolf JP, Becq F, Ray PF, Dulioust E, Gacon G, Bienvenu T, Touré A. Dirami T, et al. Among authors: gaitch n. Am J Hum Genet. 2013 May 2;92(5):760-6. doi: 10.1016/j.ajhg.2013.03.016. Epub 2013 Apr 11. Am J Hum Genet. 2013. PMID: 23582645 Free PMC article.