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.

Afiliação

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 em En | MEDLINE | ID: mdl-37364051

Assuntos

Anormalidades Múltiplas; Fenda Labial; Fissura Palatina; Defeitos do Tubo Neural; Disrafismo Espinal; Animais; Humanos; Camundongos; Anormalidades Múltiplas/genética; Fenda Labial/genética; Fissura Palatina/genética; Encefalocele/genética; Mutação; Defeitos do Tubo Neural/genética; Disrafismo Espinal/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Disrafismo Espinal / Fenda Labial / Fissura Palatina / Defeitos do Tubo Neural Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Reino Unido

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