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Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
Hodgson, Joshua; Ruiz-Llorente, Lidia; McDonald, Jamie; Quarrell, Oliver; Ugonna, Kelechi; Bentham, James; Mason, Rebecca; Martin, Jennifer; Moore, David; Bergstrom, Katie; Bayrak-Toydemir, Pinar; Wooderchak-Donahue, Whitney; Morrell, Nicholas W; Condliffe, Robin; Bernabeu, Carmelo; Upton, Paul D.
Afiliação
  • Hodgson J; Department of Medicine, University of Cambridge, Cambridge, UK.
  • Ruiz-Llorente L; Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • McDonald J; Department of Systems Biology, School of Medicine and Health Sciences, University of Alcalá, Madrid, Spain.
  • Quarrell O; HHT Center, Department of Pathology, University of Utah, Salt Lake City, UT, USA.
  • Ugonna K; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
  • Bentham J; Department of Respiratory Medicine, Sheffield Children's Hospital, Sheffield, UK.
  • Mason R; Department of Paediatric Congenital Heart Disease, Leeds Children's Hospital, Leeds, UK.
  • Martin J; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
  • Moore D; Department of Medicine, University of Cambridge, Cambridge, UK.
  • Bergstrom K; NHS Lothian Molecular Genetics Service, Western General Hospital, Edinburgh, UK.
  • Bayrak-Toydemir P; Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.
  • Wooderchak-Donahue W; ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Morrell NW; ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Condliffe R; Department of Medicine, University of Cambridge, Cambridge, UK.
  • Bernabeu C; Sheffield Pulmonary Vascular Disease Unit, Royal Hallamshire Hospital, Sheffield, UK.
  • Upton PD; Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Mol Genet Genomic Med ; 9(12): e1685, 2021 12.
Article em En | MEDLINE | ID: mdl-33834622
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Códon sem Sentido / Proteínas Morfogenéticas Ósseas / Fator 2 de Diferenciação de Crescimento / Hipertensão Arterial Pulmonar / Homozigoto Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Códon sem Sentido / Proteínas Morfogenéticas Ósseas / Fator 2 de Diferenciação de Crescimento / Hipertensão Arterial Pulmonar / Homozigoto Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article