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Genetic Modifiers of Cystic Fibrosis-Related Diabetes Have Extensive Overlap With Type 2 Diabetes and Related Traits.
Aksit MA, Pace RG, Vecchio-Pagán B, Ling H, Rommens JM, Boelle PY, Guillot L, Raraigh KS, Pugh E, Zhang P, Strug LJ, Drumm ML, Knowles MR, Cutting GR, Corvol H, Blackman SM. Aksit MA, et al. Among authors: vecchio pagan b. J Clin Endocrinol Metab. 2020 May 1;105(5):1401-15. doi: 10.1210/clinem/dgz102. J Clin Endocrinol Metab. 2020. PMID: 31697830 Free PMC article.
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Lee M, Roos P, Sharma N, Atalar M, Evans TA, Pellicore MJ, Davis E, Lam AN, Stanley SE, Khalil SE, Solomon GM, Walker D, Raraigh KS, Vecchio-Pagan B, Armanios M, Cutting GR. Lee M, et al. Among authors: vecchio pagan b. Am J Hum Genet. 2017 May 4;100(5):751-765. doi: 10.1016/j.ajhg.2017.04.001. Am J Hum Genet. 2017. PMID: 28475858 Free PMC article.
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
Lee M, Vecchio-Pagán B, Sharma N, Waheed A, Li X, Raraigh KS, Robbins S, Han ST, Franca AL, Pellicore MJ, Evans TA, Arcara KM, Nguyen H, Luan S, Belchis D, Hertecant J, Zabner J, Sly WS, Cutting GR. Lee M, et al. Hum Mol Genet. 2016 May 15;25(10):1923-1933. doi: 10.1093/hmg/ddw065. Epub 2016 Feb 23. Hum Mol Genet. 2016. PMID: 26911677 Free PMC article.
Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.
Bartoszewski R, Króliczewski J, Piotrowski A, Jasiecka AJ, Bartoszewska S, Vecchio-Pagan B, Fu L, Sobolewska A, Matalon S, Cutting GR, Rowe SM, Collawn JF. Bartoszewski R, et al. Among authors: vecchio pagan b. Cell Mol Biol Lett. 2016 Oct 19;21:23. doi: 10.1186/s11658-016-0025-x. eCollection 2016. Cell Mol Biol Lett. 2016. PMID: 28536625 Free PMC article. Review.
15 results