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FAM13A is a modifier gene of cystic fibrosis lung phenotype regulating rhoa activity, actin cytoskeleton dynamics and epithelial-mesenchymal transition.
Corvol H, Rousselet N, Thompson KE, Berdah L, Cottin G, Foussigniere T, Longchampt E, Fiette L, Sage E, Prunier C, Drumm M, Hodges CA, Boëlle PY, Guillot L. Corvol H, et al. J Cyst Fibros. 2018 Mar;17(2):190-203. doi: 10.1016/j.jcf.2017.11.003. Epub 2017 Nov 26. J Cyst Fibros. 2018. PMID: 29239766 Free article.
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: drumm ml. 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.
Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci.
Gong J, Wang F, Xiao B, Panjwani N, Lin F, Keenan K, Avolio J, Esmaeili M, Zhang L, He G, Soave D, Mastromatteo S, Baskurt Z, Kim S, O'Neal WK, Polineni D, Blackman SM, Corvol H, Cutting GR, Drumm M, Knowles MR, Rommens JM, Sun L, Strug LJ. Gong J, et al. PLoS Genet. 2019 Feb 26;15(2):e1008007. doi: 10.1371/journal.pgen.1008007. eCollection 2019 Feb. PLoS Genet. 2019. PMID: 30807572 Free PMC article.
Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.
Corvol H, Blackman SM, Boëlle PY, Gallins PJ, Pace RG, Stonebraker JR, Accurso FJ, Clement A, Collaco JM, Dang H, Dang AT, Franca A, Gong J, Guillot L, Keenan K, Li W, Lin F, Patrone MV, Raraigh KS, Sun L, Zhou YH, O'Neal WK, Sontag MK, Levy H, Durie PR, Rommens JM, Drumm ML, Wright FA, Strug LJ, Cutting GR, Knowles MR. Corvol H, et al. Among authors: drumm ml. Nat Commun. 2015 Sep 29;6:8382. doi: 10.1038/ncomms9382. Nat Commun. 2015. PMID: 26417704 Free PMC article.
Airway Mucosal Host Defense Is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.
Polineni D, Dang H, Gallins PJ, Jones LC, Pace RG, Stonebraker JR, Commander LA, Krenicky JE, Zhou YH, Corvol H, Cutting GR, Drumm ML, Strug LJ, Boyle MP, Durie PR, Chmiel JF, Zou F, Wright FA, O'Neal WK, Knowles MR. Polineni D, et al. Among authors: drumm ml. Am J Respir Crit Care Med. 2018 Jan 1;197(1):79-93. doi: 10.1164/rccm.201701-0134OC. Am J Respir Crit Care Med. 2018. PMID: 28853905 Free PMC article.
AGTR2 absence or antagonism prevents cystic fibrosis pulmonary manifestations.
Darrah RJ, Jacono FJ, Joshi N, Mitchell AL, Sattar A, Campanaro CK, Litman P, Frey J, Nethery DE, Barbato ES, Hodges CA, Corvol H, Cutting GR, Knowles MR, Strug LJ, Drumm ML. Darrah RJ, et al. Among authors: drumm ml. J Cyst Fibros. 2019 Jan;18(1):127-134. doi: 10.1016/j.jcf.2018.05.013. Epub 2018 Jun 22. J Cyst Fibros. 2019. PMID: 29937318 Free PMC article.
137 results