De novo mutation in <i>RING1</i> with epigenetic effects on neurodevelopment.

Pierce, Sarah B; Stewart, Mikaela D; Gulsuner, Suleyman; Walsh, Tom; Dhall, Abhinav; McClellan, Jon M; Klevit, Rachel E; King, Mary-Claire

De novo mutation in RING1 with epigenetic effects on neurodevelopment.

Pierce, Sarah B; Stewart, Mikaela D; Gulsuner, Suleyman; Walsh, Tom; Dhall, Abhinav; McClellan, Jon M; Klevit, Rachel E; King, Mary-Claire.

Afiliación

Pierce SB; Department of Medicine, University of Washington, Seattle, WA 98195.
Stewart MD; Department of Biochemistry, University of Washington, Seattle, WA 98195.
Gulsuner S; Department of Medicine, University of Washington, Seattle, WA 98195.
Walsh T; Department of Medicine, University of Washington, Seattle, WA 98195.
Dhall A; Department of Chemistry, University of Washington, Seattle, WA 98195.
McClellan JM; Department of Psychiatry, University of Washington, Seattle, WA 98195.
Klevit RE; Department of Biochemistry, University of Washington, Seattle, WA 98195.
King MC; Department of Medicine, University of Washington, Seattle, WA 98195; mcking@uw.edu.

Proc Natl Acad Sci U S A ; 115(7): 1558-1563, 2018 02 13.

Article en En | MEDLINE | ID: mdl-29386386

Asunto(s)

Caenorhabditis elegans/crecimiento & desarrollo; Epigénesis Genética; Regulación del Desarrollo de la Expresión Génica; Mutación; Trastornos del Neurodesarrollo/genética; Complejo Represivo Polycomb 1/genética; Secuencia de Aminoácidos; Animales; Caenorhabditis elegans/genética; Estudios de Casos y Controles; Histonas/genética; Histonas/metabolismo; Humanos; Trastornos del Neurodesarrollo/patología; Nucleosomas/metabolismo; Ubiquitina/metabolismo; Ubiquitina-Proteína Ligasas/metabolismo; Ubiquitinación

Palabras clave

CRISPR/Cas9; RING1; histone H2A; psychosis; ubiquitin

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Caenorhabditis elegans / Regulación del Desarrollo de la Expresión Génica / Epigénesis Genética / Complejo Represivo Polycomb 1 / Trastornos del Neurodesarrollo / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Animals / Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2018 Tipo del documento: Article

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