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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
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  Data: Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
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  Data: <searchLink fieldCode="AU" term="%22Sharma+M%22">Sharma M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fu+MP%22">Fu MP</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lu+HY%22">Lu HY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sharma+AA%22">Sharma AA</searchLink>; Department of Pathology, Emory University, Atlanta, GA.<br /><searchLink fieldCode="AU" term="%22Modi+BP%22">Modi BP</searchLink>; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Michalski+C%22">Michalski C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lin+S%22">Lin S</searchLink>; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Dalmann+J%22">Dalmann J</searchLink>; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Salman+A%22">Salman A</searchLink>; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Del+Bel+KL%22">Del Bel KL</searchLink>; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Waqas+M%22">Waqas M</searchLink>; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Terry+J%22">Terry J</searchLink>; Department of Pathology and Laboratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Setiadi+A%22">Setiadi A</searchLink>; Department of Pathology and Laboratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Lavoie+PM%22">Lavoie PM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Wasserman+WW%22">Wasserman WW</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mwenifumbo+J%22">Mwenifumbo J</searchLink>; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Kobor+MS%22">Kobor MS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lee+AF%22">Lee AF</searchLink>; Department of Pathology and Laboratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Kuchenbauer+F%22">Kuchenbauer F</searchLink>; Terry Fox Laboratory, BC Cancer Agency, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Lehman+A%22">Lehman A</searchLink>; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Cheng+S%22">Cheng S</searchLink>; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Cooper+A%22">Cooper A</searchLink>; Department of Orthopaedics, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Patel+MS%22">Patel MS</searchLink>; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Turvey+SE%22">Turvey SE</searchLink>; 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.
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        Value: 10.1182/blood.2022015674
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