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-Reference-Cited by-同舟云学术

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

Published:2021-04-09 Issue:12 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Hodgson Joshua¹^ORCID,Ruiz‐Llorente Lidia²³^ORCID,McDonald Jamie⁴^ORCID,Quarrell Oliver⁵^ORCID,Ugonna Kelechi⁶,Bentham James⁷,Mason Rebecca⁵,Martin Jennifer¹^ORCID,Moore David⁸^ORCID,Bergstrom Katie⁹^ORCID,Bayrak‐Toydemir Pinar¹⁰^ORCID,Wooderchak‐Donahue Whitney¹⁰^ORCID,Morrell Nicholas W.¹^ORCID,Condliffe Robin¹¹^ORCID,Bernabeu Carmelo²^ORCID,Upton Paul D.¹^ORCID

Affiliation:

1. Department of Medicine University of Cambridge Cambridge UK

2. 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

3. Department of Systems Biology School of Medicine and Health Sciences University of Alcalá Madrid Spain

4. HHT Center Department of Pathology University of Utah Salt Lake City UT USA

5. Department of Clinical Genetics Sheffield Children’s Hospital Sheffield UK

6. Department of Respiratory Medicine Sheffield Children’s Hospital Sheffield UK

7. Department of Paediatric Congenital Heart Disease Leeds Children’s Hospital Leeds UK

8. NHS Lothian Molecular Genetics Service Western General Hospital Edinburgh UK

9. Department of Pediatrics Baylor College of Medicine and Texas Children’s Hospital Houston TX USA

10. ARUP Laboratories University of Utah School of Medicine Salt Lake City UT USA

11. Sheffield Pulmonary Vascular Disease Unit Royal Hallamshire Hospital Sheffield UK

Funder

British Heart Foundation

Consejo Superior de Investigaciones Científicas

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1685

Reference47 articles.

1. Basic Science of Pulmonary Arterial Hypertension for Clinicians

2. Primary Pulmonary Hypertension Is Associated With Reduced Pulmonary Vascular Expression of Type II Bone Morphogenetic Protein Receptor

3. A homozygous variant in growth and differentiation factor 2 ( GDF2 ) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis

4. BMP9 is produced by hepatocytes and circulates mainly in an active mature form complexed to its prodomain

5. In Search of “Hepatic Factor”: Lack of Evidence for ALK1 Ligands BMP9 and BMP10

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