Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.

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Title: Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Authors: Sharma M; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada., Fu MP; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.; Genome Science and Technology Program, Faculty of Science, The University of British Columbia, Vancouver, BC, Canada., Lu HY; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada., Sharma AA; Department of Pathology, Emory University, Atlanta, GA., Modi BP; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Michalski C; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada., Lin S; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Dalmann J; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Salman A; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Del Bel KL; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Waqas M; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Terry J; Department of Pathology and Laboratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Setiadi A; Department of Pathology and Laboratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Lavoie PM; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada., Wasserman WW; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.; Centre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, BC, Canada., Mwenifumbo J; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada., Kobor MS; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.; Genome Science and Technology Program, Faculty of Science, The University of British Columbia, Vancouver, BC, Canada.; Centre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, BC, Canada., Lee AF; Department of Pathology and Laboratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Kuchenbauer F; Terry Fox Laboratory, BC Cancer Agency, The University of British Columbia, Vancouver, BC, Canada., Lehman A; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada., Cheng S; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada., Cooper A; Department of Orthopaedics, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada., Patel MS; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada., Turvey SE; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada.
Source: Blood [Blood] 2022 Oct 27; Vol. 140 (17), pp. 1858-1874.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1528-0020
DOI:10.1182/blood.2022015674