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: NFKBIA: 95G>T; Ser32Ile
A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.
Genes
Chear, Chai Teng CT; El Farran, Bader Abdul Kader BAK; Sham, Marina M; Ramalingam, Kavetha K; Noh, Lokman Mohd LM; Ismail, Intan Hakimah IH; Chiow, Mei Yee MY; Baharin, Mohd Farid MF; Ripen, Adiratna Mat AM; Mohamad, Saharuddin Bin SB
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Frontiers In Immunology
Suratannon, Narissara N; van Wijck, Rogier T A RTA; Broer, Linda L; Xue, Laixi L; van Meurs, Joyce B J JBJ; Barendregt, Barbara H BH; van der Burg, Mirjam M; Dik, Willem A WA; Chatchatee, Pantipa P; Langerak, Anton W AW; Swagemakers, Sigrid M A SMA; Goos, Jacqueline A C JAC; Mathijssen, Irene M J IMJ; Dalm, Virgil A S H VASH; Suphapeetiporn, Kanya K; Heezen, Kim C KC; Drabwell, Jose J; Uitterlinden, André G AG; van der Spek, Peter J PJ; van Hagen, P Martin PM; ,
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA.
Journal Of Clinical Immunology
Staples, Emily E; Morillo-Gutierrez, Beatriz B; Davies, Jessica J; Petersheim, Daniel D; Massaad, Michel M; Slatter, Mary M; Dimou, Dimitra D; Doffinger, Rainer R; Hackett, Scott S; Kumararatne, Dinkantha D; Hadfield, James J; Eldridge, Matthew D MD; Geha, Raif S RS; Abinun, Mario M; Thaventhiran, James E D JED
Heterozygous Mutation in IκBNS Leads to Reduced Levels of Natural IgM Antibodies and Impaired Responses to T-Independent Type 2 Antigens.
Frontiers In Immunology
Pedersen, Gabriel K GK; Ádori, Monika M; Stark, Julian M JM; Khoenkhoen, Sharesta S; Arnold, Carrie C; Beutler, Bruce B; Karlsson Hedestam, Gunilla B GB
Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.
The Journal Of Experimental Medicine
Mooster, Jana L JL; Le Bras, Severine S; Massaad, Michel J MJ; Jabara, Haifa H; Yoon, Juhan J; Galand, Claire C; Heesters, Balthasar A BA; Burton, Oliver T OT; Mattoo, Hamid H; Manis, John J; Geha, Raif S RS