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Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough.
Lee RE, Lewis CA, He L, Bulik-Sullivan EC, Gallant SC, Mascenik TM, Dang H, Cholon DM, Gentzsch M, Morton LC, Minges JT, Theile JW, Castle NA, Knowles MR, Kimple AJ, Randell SH. Lee RE, et al. Among authors: knowles mr. J Clin Invest. 2022 Sep 15;132(18):e154571. doi: 10.1172/JCI154571. J Clin Invest. 2022. PMID: 35900863 Free PMC article.
Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes.
O'Neal WK, Gallins P, Pace RG, Dang H, Wolf WE, Jones LC, Guo X, Zhou YH, Madar V, Huang J, Liang L, Moffatt MF, Cutting GR, Drumm ML, Rommens JM, Strug LJ, Sun W, Stonebraker JR, Wright FA, Knowles MR. O'Neal WK, et al. Among authors: knowles mr. Am J Hum Genet. 2015 Feb 5;96(2):318-28. doi: 10.1016/j.ajhg.2014.12.022. Epub 2015 Jan 29. Am J Hum Genet. 2015. PMID: 25640674 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: knowles mr. Nat Commun. 2015 Sep 29;6:8382. doi: 10.1038/ncomms9382. Nat Commun. 2015. PMID: 26417704 Free PMC article.
Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.
Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, Rosenfeld M, Olivier KN, Milla C, Daniel SJ, Kimple AJ, Manion M, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Shapiro AJ, et al. Among authors: knowles mr. Pediatr Pulmonol. 2016 Feb;51(2):115-32. doi: 10.1002/ppul.23304. Epub 2015 Sep 29. Pediatr Pulmonol. 2016. PMID: 26418604 Free PMC article. Review.
Novel variation at chr11p13 associated with cystic fibrosis lung disease severity.
Dang H, Gallins PJ, Pace RG, Guo XL, Stonebraker JR, Corvol H, Cutting GR, Drumm ML, Strug LJ, Knowles MR, O'Neal WK. Dang H, et al. Among authors: knowles mr. Hum Genome Var. 2016 Jul 7;3:16020. doi: 10.1038/hgv.2016.20. eCollection 2016. Hum Genome Var. 2016. PMID: 27408752 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: knowles mr. 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.
309 results