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: UBIAD1: 524C>T; Thr175Ile
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.
Scientific Reports
Dong, Fei F; Jin, Xueting X; Boettler, Michelle A MA; Sciulli, Harrison H; Abu-Asab, Mones M; Del Greco, Christina C; Wang, Shurong S; Hu, Yueh-Chiang YC; Campos, Maria M MM; Jackson, Shelley N SN; Muller, Ludovic L; Woods, Amina S AS; Combs, Christian A CA; Zhang, Jianhua J; Nickerson, Michael L ML; Kruth, Howard S HS; Weiss, Jayne S JS; Kao, Winston W WW
The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.
Human Mutation
Nickerson, Michael L ML; Bosley, Allen D AD; Weiss, Jayne S JS; Kostiha, Brittany N BN; Hirota, Yoshihisa Y; Brandt, Wolfgang W; Esposito, Dominic D; Kinoshita, Shigeru S; Wessjohann, Ludger L; Morham, Scott G SG; Andresson, Thorkell T; Kruth, Howard S HS; Okano, Toshio T; Dean, Michael M
The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression.
Dna And Cell Biology
Fredericks, William J WJ; McGarvey, Terry T; Wang, Huiyi H; Lal, Priti P; Puthiyaveettil, Raghunath R; Tomaszewski, John J; Sepulveda, Jorge J; Labelle, Ed E; Weiss, Jayne S JS; Nickerson, Michael L ML; Kruth, Howard S HS; Brandt, Wolfgang W; Wessjohann, Ludger A LA; Malkowicz, S Bruce SB
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
Plos One
Nickerson, Michael L ML; Kostiha, Brittany N BN; Brandt, Wolfgang W; Fredericks, William W; Xu, Ke-Ping KP; Yu, Fu-Shin FS; Gold, Bert B; Chodosh, James J; Goldberg, Marc M; Lu, Da Wen DW; Yamada, Masakazu M; Tervo, Timo M TM; Grutzmacher, Richard R; Croasdale, Chris C; Hoeltzenbein, Maria M; Sutphin, John J; Malkowicz, S Bruce SB; Wessjohann, Ludger L; Kruth, Howard S HS; Dean, Michael M; Weiss, Jayne S JS
The IC3D classification of the corneal dystrophies.
Cornea
Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK
Publication Date: 2008-12
Variant appearance in text: UBIAD1: 524C>T; Thr175Ile