Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: CFTR: 2739T>A; Tyr913Ter
Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.
Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Human Mutation
Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S
Publication Date: 2021-09
Variant appearance in text: CFTR: 2739T>A; Tyr913*
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D
Effectiveness of ivacaftor in cystic fibrosis patients with non-G551D gating mutations.
Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Guimbellot, Jennifer J; Solomon, George M GM; Baines, Arthur A; Heltshe, Sonya L SL; VanDalfsen, Jill J; Joseloff, Elizabeth E; Sagel, Scott D SD; Rowe, Steven M SM; ,
Hypertonic saline has a prolonged effect on mucociliary clearance in adults with cystic fibrosis.
Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Trimble, Aaron T AT; Whitney Brown, A A; Laube, Beth L BL; Lechtzin, Noah N; Zeman, Kirby L KL; Wu, Jihong J; Ceppe, Agathe A; Waltz, David D; Bennett, William D WD; Donaldson, Scott H SH