The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Cancer Research Communications
Magistri, Marco M; Happ, Lanie E LE; Ramdial, Jeremy J; Lu, XiaoQing X; Stathias, Vasileios V; Kunkalla, Kranthi K; Agarwal, Nitin N; Jiang, Xiaoyu X; Schürer, Stephan C SC; Dubovy, Sander R SR; Chapman, Jennifer R JR; Vega, Francisco F; Dave, Sandeep S; Lossos, Izidore S IS
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022
Variant appearance in text: CARD10: 983C>T; rs139006752
Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.
International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15
Variant appearance in text: CARD10: Ala328Val; rs139006752
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.
Molecular Genetics & Genomic Medicine
Zhou, Tiger T; Souzeau, Emmanuelle E; Sharma, Shiwani S; Siggs, Owen M OM; Goldberg, Ivan I; Healey, Paul R PR; Graham, Stuart S; Hewitt, Alex W AW; Mackey, David A DA; Casson, Robert J RJ; Landers, John J; Mills, Richard R; Ellis, Jonathan J; Leo, Paul P; Brown, Matthew A MA; MacGregor, Stuart S; Burdon, Kathryn P KP; Craig, Jamie E JE
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: CARD10: A328V; rs139006752