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De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Srivastava, Anshika; Ritesh, K C; Tsan, Yao-Chang; Liao, Rosy; Su, Fengyun; Cao, Xuhong; Hannibal, Mark C; Keegan, Catherine E; Chinnaiyan, Arul M; Martin, Donna M; Bielas, Stephanie L.
Affiliation
  • Srivastava A; Department of Human Genetics.
  • Ritesh KC; Department of Human Genetics.
  • Tsan YC; Department of Human Genetics.
  • Liao R; Department of Human Genetics.
  • Su F; Howard Hughes Medical Institute, Department of Pathology, Departments of Urology, Computational Medicine and Bioinformatics, and.
  • Cao X; Howard Hughes Medical Institute, Department of Pathology, Departments of Urology, Computational Medicine and Bioinformatics, and.
  • Hannibal MC; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Keegan CE; Department of Human Genetics, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Chinnaiyan AM; Howard Hughes Medical Institute, Department of Pathology, Departments of Urology, Computational Medicine and Bioinformatics, and.
  • Martin DM; Department of Human Genetics, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Bielas SL; Department of Human Genetics, sbielas@umich.edu.
Hum Mol Genet ; 25(3): 597-608, 2016 Feb 01.
Article in En | MEDLINE | ID: mdl-26647312

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Histones / Developmental Disabilities / Failure to Thrive / Language Development Disorders / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2016 Document type: Article

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Histones / Developmental Disabilities / Failure to Thrive / Language Development Disorders / Intellectual Disability / Mutation Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Male Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2016 Document type: Article