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: KCNMA1: 1301A>G; Asp434Gly
BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models.
Elife
Park, Su Mi SM; Roache, Cooper E CE; Iffland, Philip H PH; Moldenhauer, Hans J HJ; Matychak, Katia K KK; Plante, Amber E AE; Lieberman, Abby G AG; Crino, Peter B PB; Meredith, Andrea A
Publication Date: 2022-07-12
Variant appearance in text: KCNMA1: D434G; rs137853333
Impaired Pre-Motor Circuit Activity and Movement in a Drosophila Model of KCNMA1-Linked Dyskinesia.
Movement Disorders : Official Journal Of The Movement Disorder Society
Kratschmer, Patrick P; Lowe, Simon A SA; Buhl, Edgar E; Chen, Ko-Fan KF; Kullmann, Dimitri M DM; Pittman, Alan A; Hodge, James J L JJL; Jepson, James E C JEC
A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.
Movement Disorders : Official Journal Of The Movement Disorder Society
Zhang, Guohui G; Gibson, Rebecca A RA; McDonald, Marie M; Liang, Pengfei P; Kang, Po Wei PW; Shi, Jingyi J; Yang, Huanghe H; Cui, Jianmin J; Mikati, Mohamad A MA
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.
Human Molecular Genetics
Choi, Elliot H EH; Suh, Susie S; Sander, Christopher L CL; Hernandez, Christian J Ortiz CJO; Bulman, Elizabeth R ER; Khadka, Nimesh N; Dong, Zhiqian Z; Shi, Wuxian W; Palczewski, Krzysztof K; Kiser, Philip D PD