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A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.
Sharma N, LaRusch J, Sosnay PR, Gottschalk LB, Lopez AP, Pellicore MJ, Evans T, Davis E, Atalar M, Na CH, Rosson GD, Belchis D, Milewski M, Pandey A, Cutting GR. Sharma N, et al. Among authors: sosnay pr. Am J Physiol Lung Cell Mol Physiol. 2016 Dec 1;311(6):L1170-L1182. doi: 10.1152/ajplung.00363.2016. Epub 2016 Oct 28. Am J Physiol Lung Cell Mol Physiol. 2016. PMID: 27793802 Free PMC article.
Interpretation of genetic variants.
Sosnay PR, Cutting GR. Sosnay PR, et al. Thorax. 2014 Mar;69(3):295-7. doi: 10.1136/thoraxjnl-2013-204903. Epub 2013 Dec 16. Thorax. 2014. PMID: 24343785 Free PMC article.
Bias in CFTR screening panels.
Sosnay PR, Castellani C, Penland CM, Rommens JM, Lewis M, Raraigh KS, Corey M, Cutting GR. Sosnay PR, et al. Genet Med. 2016 Feb;18(2):209. doi: 10.1038/gim.2015.105. Epub 2015 Oct 29. Genet Med. 2016. PMID: 26513347 Free PMC article. No abstract available.
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Sharma N, Evans TA, Pellicore MJ, Davis E, Aksit MA, McCague AF, Joynt AT, Lu Z, Han ST, Anzmann AF, Lam AN, Thaxton A, West N, Merlo C, Gottschalk LB, Raraigh KS, Sosnay PR, Cotton CU, Cutting GR. Sharma N, et al. Among authors: sosnay pr. PLoS Genet. 2018 Nov 16;14(11):e1007723. doi: 10.1371/journal.pgen.1007723. eCollection 2018 Nov. PLoS Genet. 2018. PMID: 30444886 Free PMC article.
Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.
McCague AF, Raraigh KS, Pellicore MJ, Davis-Marcisak EF, Evans TA, Han ST, Lu Z, Joynt AT, Sharma N, Castellani C, Collaco JM, Corey M, Lewis MH, Penland CM, Rommens JM, Stephenson AL, Sosnay PR, Cutting GR. McCague AF, et al. Among authors: sosnay pr. Am J Respir Crit Care Med. 2019 May 1;199(9):1116-1126. doi: 10.1164/rccm.201901-0145OC. Am J Respir Crit Care Med. 2019. PMID: 30888834 Free PMC article.
37 results