A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.

Crane-Smith, Zoe; De Castro, Sandra C P; Nikolopoulou, Evanthia; Wolujewicz, Paul; Smedley, Damian; Lei, Yunping; Mather, Emma; Santos, Chloe; Hopkinson, Mark; Pitsillides, Andrew A; Finnell, Richard H; Ross, M Elisabeth; Copp, Andrew J; Greene, Nicholas D E

Crane-Smith, Zoe; De Castro, Sandra C P; Nikolopoulou, Evanthia; Wolujewicz, Paul; Smedley, Damian; Lei, Yunping; Mather, Emma; Santos, Chloe; Hopkinson, Mark; Pitsillides, Andrew A; Finnell, Richard H; Ross, M Elisabeth; Copp, Andrew J; Greene, Nicholas D E.

Afiliación

Crane-Smith Z; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
De Castro SCP; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
Nikolopoulou E; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
Wolujewicz P; Center for Neurogenetics, Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York 10065, USA.
Smedley D; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Lei Y; Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA.
Mather E; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
Santos C; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
Hopkinson M; Department of Comparative Biomedical Sciences, Royal Veterinary College, London NW1 0TU, UK.
Pitsillides AA; Department of Comparative Biomedical Sciences, Royal Veterinary College, London NW1 0TU, UK.
Finnell RH; Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA.
Ross ME; Center for Neurogenetics, Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York 10065, USA.
Copp AJ; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
Greene NDE; Developmental Biology and Cancer Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.

Hum Mol Genet ; 32(17): 2681-2692, 2023 08 26.

Article en En | MEDLINE | ID: mdl-37364051

Asunto(s)

Anomalías Múltiples; Labio Leporino; Fisura del Paladar; Defectos del Tubo Neural; Disrafia Espinal; Animales; Humanos; Ratones; Anomalías Múltiples/genética; Labio Leporino/genética; Fisura del Paladar/genética; Encefalocele/genética; Mutación; Defectos del Tubo Neural/genética; Disrafia Espinal/genética

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Múltiples / Disrafia Espinal / Labio Leporino / Fisura del Paladar / Defectos del Tubo Neural Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido

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