Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension
Open Access
- 1 May 2004
- Vol. 59 (5), 446-448
- https://doi.org/10.1136/thx.2003.11890
Abstract
Dexfenfluramine associated pulmonary arterial hypertension occurring in a patient with hereditary haemorrhagic telangiectasia related to a mutation within the endoglin gene is described. This report highlights the critical role of the TGF-β signalling pathway in this condition.Keywords
This publication has 16 references indexed in Scilit:
- BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivativesEuropean Respiratory Journal, 2002
- Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic TelangiectasiaNew England Journal of Medicine, 2001
- Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta familyJournal of Medical Genetics, 2000
- Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertensionNature Genetics, 2000
- Familial Primary Pulmonary Hypertension (Gene PPH1) Is Caused by Mutations in the Bone Morphogenetic Protein Receptor–II GeneAmerican Journal of Human Genetics, 2000
- Rare diseases bullet 4: Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanismsThorax, 1999
- Primary Pulmonary HypertensionNew England Journal of Medicine, 1997
- Appetite-Suppressant Drugs and the Risk of Primary Pulmonary HypertensionNew England Journal of Medicine, 1996
- Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1Nature Genetics, 1994
- Identification of human activin and TGFβ type I receptors that form heteromeric kinase complexes with type II receptorsCell, 1993