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Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.
Rauscher R, Bampi GB, Guevara-Ferrer M, Santos LA, Joshi D, Mark D, Strug LJ, Rommens JM, Ballmann M, Sorscher EJ, Oliver KE, Ignatova Z. Rauscher R, et al. Among authors: rommens jm. Proc Natl Acad Sci U S A. 2021 Jan 26;118(4):e2010612118. doi: 10.1073/pnas.2010612118. Proc Natl Acad Sci U S A. 2021. PMID: 33468668 Free PMC article.
Phosphatase inhibitors activate normal and defective CFTR chloride channels.
Becq F, Jensen TJ, Chang XB, Savoia A, Rommens JM, Tsui LC, Buchwald M, Riordan JR, Hanrahan JW. Becq F, et al. Among authors: rommens jm. Proc Natl Acad Sci U S A. 1994 Sep 13;91(19):9160-4. doi: 10.1073/pnas.91.19.9160. Proc Natl Acad Sci U S A. 1994. PMID: 7522329 Free PMC article.
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
Wright FA, Strug LJ, Doshi VK, Commander CW, Blackman SM, Sun L, Berthiaume Y, Cutler D, Cojocaru A, Collaco JM, Corey M, Dorfman R, Goddard K, Green D, Kent JW Jr, Lange EM, Lee S, Li W, Luo J, Mayhew GM, Naughton KM, Pace RG, Paré P, Rommens JM, Sandford A, Stonebraker JR, Sun W, Taylor C, Vanscoy LL, Zou F, Blangero J, Zielenski J, O'Neal WK, Drumm ML, Durie PR, Knowles MR, Cutting GR. Wright FA, et al. Among authors: rommens jm. Nat Genet. 2011 Jun;43(6):539-46. doi: 10.1038/ng.838. Epub 2011 May 22. Nat Genet. 2011. PMID: 21602797 Free PMC article.
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.
Sun L, Rommens JM, Corvol H, Li W, Li X, Chiang TA, Lin F, Dorfman R, Busson PF, Parekh RV, Zelenika D, Blackman SM, Corey M, Doshi VK, Henderson L, Naughton KM, O'Neal WK, Pace RG, Stonebraker JR, Wood SD, Wright FA, Zielenski J, Clement A, Drumm ML, Boëlle PY, Cutting GR, Knowles MR, Durie PR, Strug LJ. Sun L, et al. Among authors: rommens jm. Nat Genet. 2012 May;44(5):562-9. doi: 10.1038/ng.2221. Nat Genet. 2012. PMID: 22466613 Free PMC article.
162 results