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: KCTD7: 295C>T; Arg99Ter
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
American Journal Of Human Genetics
Staropoli, John F JF; Karaa, Amel A; Lim, Elaine T ET; Kirby, Andrew A; Elbalalesy, Naser N; Romansky, Stephen G SG; Leydiker, Karen B KB; Coppel, Scott H SH; Barone, Rosemary R; Xin, Winnie W; MacDonald, Marcy E ME; Abdenur, Jose E JE; Daly, Mark J MJ; Sims, Katherine B KB; Cotman, Susan L SL
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
Journal Of Medical Genetics
Kousi, Maria M; Anttila, Verneri V; Schulz, Angela A; Calafato, Stella S; Jakkula, Eveliina E; Riesch, Erik E; Myllykangas, Liisa L; Kalimo, Hannu H; Topçu, Meral M; Gökben, Sarenur S; Alehan, Fusun F; Lemke, Johannes R JR; Alber, Michael M; Palotie, Aarno A; Kopra, Outi O; Lehesjoki, Anna-Elina AE