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: PSEN1: 1297C>T; Pro433Ser
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Molecular Psychiatry
Petit, Dieter D; Fernández, Sara Gutiérrez SG; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Ryan, Natalie S NS; O'Connor, Antoinette A; Szaruga, Maria M; Hill, Elizabeth E; Vandenberghe, Rik R; Fox, Nick C NC; Chávez-Gutiérrez, Lucía L
A Coordinated Approach by Public Domain Bioinformatics Resources to Aid the Fight Against Alzheimer's Disease Through Expert Curation of Key Protein Targets.
Journal Of Alzheimer'S Disease : Jad
Breuza, Lionel L; Arighi, Cecilia N CN; Argoud-Puy, Ghislaine G; Casals-Casas, Cristina C; Estreicher, Anne A; Famiglietti, Maria Livia ML; Georghiou, George G; Gos, Arnaud A; Gruaz-Gumowski, Nadine N; Hinz, Ursula U; Hyka-Nouspikel, Nevila N; Kramarz, Barbara B; Lovering, Ruth C RC; Lussi, Yvonne Y; Magrane, Michele M; Masson, Patrick P; Perfetto, Livia L; Poux, Sylvain S; Rodriguez-Lopez, Milagros M; Stoeckert, Christian C; Sundaram, Shyamala S; Wang, Li-San LS; Wu, Elizabeth E; Orchard, Sandra S; ,