Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: ACVRL1: 1232G>A; R411Q; rs121909284
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: ACVRL1: 1232G>A; Arg411Gln
Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.
Journal Of Clinical Medicine
Major, Tamás T; Bereczky, Zsuzsanna Z; Gindele, Réka R; Balogh, Gábor G; Rácz, Benedek B; Bora, László L; Kézsmárki, Zsolt Z; Brúgós, Boglárka B; Pfliegler, György G
Spatially interacting phosphorylation sites and mutations in cancer.
Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.
Orphanet Journal Of Rare Diseases
Sánchez-Martínez, Rosario R; Iriarte, Adriana A; Mora-Luján, José María JM; Patier, José Luis JL; López-Wolf, Daniel D; Ojeda, Ana A; Torralba, Miguel Angel MA; Juyol, María Coloma MC; Gil, Ricardo R; Añón, Sol S; Salazar-Mendiguchía, Joel J; Riera-Mestre, Antoni A; ,
Publication Date: 2020-06-05
Variant appearance in text: ACVRL1: 1232G>A; Arg411Gln
Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review.
Neurointervention
Kim, Donghyun D; Seo, Eul-Ju EJ; Song, Yun Sun YS; Suh, Chong Hyun CH; Kim, Jong Won JW; Kim, Dong Joon DJ; Suh, Dae Chul DC
Association of the gene polymorphisms of BMPR2, ACVRL1, SMAD9 and their interactions with the risk of essential hypertension in the Chinese Han population.
Bioscience Reports
Chen, Yunpeng Y; Ye, Chenxi C; Chen, Jingwen J; Lin, Dongming D; Wang, Hao H; Wang, Shen S
Activin receptor-like kinase 1 is associated with immune cell infiltration and regulates CLEC14A transcription in cancer.
Angiogenesis
Bocci, Matteo M; Sjölund, Jonas J; Kurzejamska, Ewa E; Lindgren, David D; Marzouka, Nour-Al-Dain NA; Bartoschek, Michael M; Höglund, Mattias M; Pietras, Kristian K
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28
Variant appearance in text: ACVRL1: 1232G>A; R411Q
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Human Mutation
Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
Bmc Medical Genetics
Fontalba, Ana A; Fernandez-L, Africa A; García-Alegria, Eva E; Albiñana, Virginia V; Garrido-Martin, Eva M EM; Blanco, Francisco J FJ; Zarrabeitia, Roberto R; Perez-Molino, Alfonso A; Bernabeu-Herrero, Maria E ME; Ojeda, Maria-Luisa ML; Fernandez-Luna, Jose L JL; Bernabeu, Carmelo C; Botella, Luisa M LM