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CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.
Raraigh KS, Paul KC, Goralski JL, Worthington EN, Faino AV, Sciortino S, Wang Y, Aksit MA, Ling H, Osorio DL, Onchiri FM, Patel SU, Merlo CA, Montemayor K, Gibson RL, West NE, Thakerar A, Bridges RJ, Sheppard DN, Sharma N, Cutting GR. Raraigh KS, et al. Among authors: sheppard dn. JCI Insight. 2022 Mar 22;7(6):e148841. doi: 10.1172/jci.insight.148841. JCI Insight. 2022. PMID: 35315358 Free PMC article.
Recommendations for the classification of diseases as CFTR-related disorders.
Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevínek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C. Bombieri C, et al. Among authors: sheppard dn. J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102. doi: 10.1016/S1569-1993(11)60014-3. J Cyst Fibros. 2011. PMID: 21658649 Free article.
From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.
Veit G, Avramescu RG, Chiang AN, Houck SA, Cai Z, Peters KW, Hong JS, Pollard HB, Guggino WB, Balch WE, Skach WR, Cutting GR, Frizzell RA, Sheppard DN, Cyr DM, Sorscher EJ, Brodsky JL, Lukacs GL. Veit G, et al. Among authors: sheppard dn. Mol Biol Cell. 2016 Feb 1;27(3):424-33. doi: 10.1091/mbc.E14-04-0935. Mol Biol Cell. 2016. PMID: 26823392 Free PMC article.
118 results