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: FBN1: 4710G>T; Trp1570Cys
A disease-associated mutation in fibrillin-1 differentially regulates integrin-mediated cell adhesion.
The Journal Of Biological Chemistry
Del Cid, Joselyn S JS; Reed, Nilgun Isik NI; Molnar, Kathleen K; Liu, Sean S; Dang, Bobo B; Jensen, Sacha A SA; DeGrado, William W; Handford, Penny A PA; Sheppard, Dean D; Sundaram, Aparna B AB
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
Science Translational Medicine
Loeys, B L BL; Gerber, E E EE; Riegert-Johnson, D D; Iqbal, S S; Whiteman, P P; McConnell, V V; Chillakuri, C R CR; Macaya, D D; Coucke, P J PJ; De Paepe, A A; Judge, D P DP; Wigley, F F; Davis, E C EC; Mardon, H J HJ; Handford, P P; Keene, D R DR; Sakai, L Y LY; Dietz, H C HC
Publication Date: 2010-03-17
Variant appearance in text: FBN1: 4710G>T; Trp1570Cys