Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.

Hong, Sungkook; Hu, Ping; Jang, Jae Hee; Carrington, Blake; Sood, Raman; Berger, Seth I; Roessler, Erich; Muenke, Maximilian

Hong, Sungkook; Hu, Ping; Jang, Jae Hee; Carrington, Blake; Sood, Raman; Berger, Seth I; Roessler, Erich; Muenke, Maximilian.

Afiliación

Hong S; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Hu P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Jang JH; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Carrington B; College of Computer, Mathematical, and Natural Sciences, University of Maryland, College Park, Maryland, USA.
Sood R; Zebrafish Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Berger SI; Zebrafish Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Roessler E; Children's National Hospital, Center for Genetic Medicine Research and Rare Disease Institute, Washington DC, USA.
Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Hum Mutat ; 41(12): 2155-2166, 2020 12.

Article en En | MEDLINE | ID: mdl-32939873

Asunto(s)

Sistemas CRISPR-Cas/genética; Variación Genética; Proteínas Hedgehog/genética; Holoprosencefalia/genética; Proteínas de Pez Cebra/genética; Pez Cebra/genética; Alelos; Animales; Modelos Animales de Enfermedad; Familia; Estudios de Asociación Genética; Guías como Asunto; Humanos; Mutación con Pérdida de Función/genética; Mutación/genética; Fenotipo; ARN Mensajero/genética; ARN Mensajero/metabolismo; Sociedades Científicas

Palabras clave

CRISPR/Cas9; hedgehog signaling; holoprosencephaly; variant reinterpretation; zebrafish

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variación Genética / Pez Cebra / Holoprosencefalia / Proteínas de Pez Cebra / Proteínas Hedgehog / Sistemas CRISPR-Cas Tipo de estudio: Guideline / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article

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