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: LRP6: 1831C>T; Arg611Cys
RNF43/ZNRF3 loss predisposes to hepatocellular-carcinoma by impairing liver regeneration and altering the liver lipid metabolic ground-state.
Nature Communications
Belenguer, Germán G; Mastrogiovanni, Gianmarco G; Pacini, Clare C; Hall, Zoe Z; Dowbaj, Anna M AM; Arnes-Benito, Robert R; Sljukic, Aleksandra A; Prior, Nicole N; Kakava, Sofia S; Bradshaw, Charles R CR; Davies, Susan S; Vacca, Michele M; Saeb-Parsy, Kourosh K; Koo, Bon-Kyoung BK; Huch, Meritxell M
RNF43/ZNRF3 loss predisposes to hepatocellular-carcinoma by impairing liver regeneration and altering the liver lipid metabolic ground-state.
Nature Communications
Belenguer, Germán G; Mastrogiovanni, Gianmarco G; Pacini, Clare C; Hall, Zoe Z; Dowbaj, Anna M AM; Arnes-Benito, Robert R; Sljukic, Aleksandra A; Prior, Nicole N; Kakava, Sofia S; Bradshaw, Charles R CR; Davies, Susan S; Vacca, Michele M; Saeb-Parsy, Kourosh K; Koo, Bon-Kyoung BK; Huch, Meritxell M
Unique Role of Caffeine Compared to Other Methylxanthines (Theobromine, Theophylline, Pentoxifylline, Propentofylline) in Regulation of AD Relevant Genes in Neuroblastoma SH-SY5Y Wild Type Cells.
International Journal Of Molecular Sciences
Janitschke, Daniel D; Lauer, Anna A AA; Bachmann, Cornel M CM; Seyfried, Martin M; Grimm, Heike S HS; Hartmann, Tobias T; Grimm, Marcus O W MOW
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Role and mechanisms of action of microRNA‑21 as regards the regulation of the WNT/β‑catenin signaling pathway in the pathogenesis of non‑alcoholic fatty liver disease.
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: LRP6: 1831C>T; Arg611Cys; rs121918313
Cardiovascular disease and cancer: Evidence for shared disease pathways and pharmacologic prevention.
Atherosclerosis
Masoudkabir, Farzad F; Sarrafzadegan, Nizal N; Gotay, Carolyn C; Ignaszewski, Andrew A; Krahn, Andrew D AD; Davis, Margot K MK; Franco, Christopher C; Mani, Arya A
Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6) Is a Novel Nutritional Therapeutic Target for Hyperlipidemia, Non-Alcoholic Fatty Liver Disease, and Atherosclerosis.
Low density lipoprotein receptor related protein 1 and 6 gene variants and ischaemic stroke risk.
European Journal Of Neurology
Harriott, A M AM; Heckman, M G MG; Rayaprolu, S S; Soto-Ortolaza, A I AI; Diehl, N N NN; Kanekiyo, T T; Liu, C-C CC; Bu, G G; Malik, R R; , ; Cole, J W JW; Meschia, J F JF; Ross, O A OA
The combined hyperlipidemia caused by impaired Wnt-LRP6 signaling is reversed by Wnt3a rescue.
Cell Metabolism
Go, Gwang-Woong GW; Srivastava, Roshni R; Hernandez-Ono, Antonio A; Gang, Gyoungok G; Smith, Stephen B SB; Booth, Carmen J CJ; Ginsberg, Henry N HN; Mani, Arya A
Proceedings Of The National Academy Of Sciences Of The United States Of America
Keramati, Ali R AR; Singh, Rajvir R; Lin, Aiping A; Faramarzi, Saeed S; Ye, Zhi-jia ZJ; Mane, Shrikant S; Tellides, George G; Lifton, Richard P RP; Mani, Arya A
Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease.
Proceedings Of The National Academy Of Sciences Of The United States Of America
De Ferrari, Giancarlo V GV; Papassotiropoulos, Andreas A; Biechele, Travis T; Wavrant De-Vrieze, Fabienne F; Avila, Miguel E ME; Major, Michael B MB; Myers, Amanda A; Sáez, Katia K; Henríquez, Juan P JP; Zhao, Alice A; Wollmer, M Axel MA; Nitsch, Roger M RM; Hock, Christoph C; Morris, Chris M CM; Hardy, John J; Moon, Randall T RT
LRP6 mutation in a family with early coronary disease and metabolic risk factors.
Science (New York, N.Y.)
Mani, Arya A; Radhakrishnan, Jayaram J; Wang, He H; Mani, Alaleh A; Mani, Mohammad-Ali MA; Nelson-Williams, Carol C; Carew, Khary S KS; Mane, Shrikant S; Najmabadi, Hossein H; Wu, Dan D; Lifton, Richard P RP