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Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
Sharma, Mehul; Fu, Maggie P; Lu, Henry Y; Sharma, Ashish A; Modi, Bhavi P; Michalski, Christina; Lin, Susan; Dalmann, Joshua; Salman, Areesha; Del Bel, Kate L; Waqas, Meriam; Terry, Jefferson; Setiadi, Audi; Lavoie, Pascal M; Wasserman, Wyeth W; Mwenifumbo, Jill; Kobor, Michael S; Lee, Anna F; Kuchenbauer, Florian; Lehman, Anna; Cheng, Sylvia; Cooper, Anthony; Patel, Millan S; Turvey, Stuart E.
  • Sharma M; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.
  • Fu MP; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada.
  • Lu HY; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada.
  • Sharma AA; Genome Science and Technology Program, Faculty of Science, The University of British Columbia, Vancouver, BC, Canada.
  • Modi BP; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.
  • Michalski C; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada.
  • Lin S; Department of Pathology, Emory University, Atlanta, GA.
  • 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; Experimental Medicine Program, Faculty of Medicine, 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 Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.
  • Setiadi A; Department of Pediatrics, 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.
  • Wasserman WW; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.
  • Mwenifumbo J; Department of Pathology and Laboratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.
  • Kobor MS; Department of Pathology and Laboratory Medicine, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.
  • Lee AF; Department of Pediatrics, BC Children's Hospital, The University of British Columbia, Vancouver, BC, Canada.
  • Kuchenbauer F; Experimental Medicine Program, Faculty of Medicine, 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; Centre for Molecular Medicine and Therapeutics, The University of British Columbia, Vancouver, BC, Canada.
  • Cooper A; Department of Medical Genetics, BC Children's Hospital Research Institute, 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; Genome Science and Technology Program, Faculty of Science, The University of British Columbia, Vancouver, BC, Canada.
Blood ; 140(17): 1858-1874, 2022 10 27.
Article en En | MEDLINE | ID: mdl-35789258
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Leucemia de Células B / Osteocondroma / Contractura Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Leucemia de Células B / Osteocondroma / Contractura Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article