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: ANLN: 1291C>T; Arg431Cys
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Genome Medicine
Bowling, Kevin M KM; Thompson, Michelle L ML; Kelly, Melissa A MA; Scollon, Sarah S; Slavotinek, Anne M AM; Powell, Bradford C BC; Kirmse, Brian M BM; Hendon, Laura G LG; Brothers, Kyle B KB; Korf, Bruce R BR; Cooper, Gregory M GM; Greally, John M JM; Hurst, Anna C E ACE
Publication Date: 2022-11-21
Variant appearance in text: ANLN: 1291C>T; Arg431Cys
Urine-Derived Epithelial Cells as Models for Genetic Kidney Diseases.
Cells
Bondue, Tjessa T; Arcolino, Fanny O FO; Veys, Koenraad R P KRP; Adebayo, Oyindamola C OC; Levtchenko, Elena E; van den Heuvel, Lambertus P LP; Elmonem, Mohamed A MA
A Functional Landscape of CKD Entities From Public Transcriptomic Data.
Kidney International Reports
Tajti, Ferenc F; Kuppe, Christoph C; Antoranz, Asier A; Ibrahim, Mahmoud M MM; Kim, Hyojin H; Ceccarelli, Francesco F; Holland, Christian H CH; Olauson, Hannes H; Floege, Jürgen J; Alexopoulos, Leonidas G LG; Kramann, Rafael R; Saez-Rodriguez, Julio J
The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes.
Journal Of The American Society Of Nephrology : Jasn
Hall, Gentzon G; Lane, Brandon M BM; Khan, Kamal K; Pediaditakis, Igor I; Xiao, Jianqiu J; Wu, Guanghong G; Wang, Liming L; Kovalik, Maria E ME; Chryst-Stangl, Megan M; Davis, Erica E EE; Spurney, Robert F RF; Gbadegesin, Rasheed A RA