Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function
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Title
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function
Authors
Keywords
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Journal
HUMAN MOLECULAR GENETICS
Volume 24, Issue 4, Pages 1142-1154
Publisher
Oxford University Press (OUP)
Online
2014-10-14
DOI
10.1093/hmg/ddu531
References
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- (2014) Tassilo Förg et al. PLoS One
- BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia
- (2013) Whitney L. Wooderchak-Donahue et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Endoglin regulates the activation and quiescence of endothelium by participating in canonical and non-canonical TGF- signaling pathways
- (2013) S. Park et al. JOURNAL OF CELL SCIENCE
- Review: The enigmatic role of endoglin in the placenta
- (2013) A.L. Gregory et al. PLACENTA
- Endoglin inhibits ERK-induced c-Myc and cyclin D1 expression to impede endothelial cell proliferation
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- Structural and Functional Insights into Endoglin Ligand Recognition and Binding
- (2012) Aaron Alt et al. PLoS One
- Endoglin Requirement for BMP9 Signaling in Endothelial Cells Reveals New Mechanism of Action for Selective Anti-Endoglin Antibodies
- (2012) Olivier Nolan-Stevaux et al. PLoS One
- A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia
- (2012) Atsuo Suzuki et al. THROMBOSIS RESEARCH
- Soluble Endoglin Specifically Binds Bone Morphogenetic Proteins 9 and 10 via Its Orphan Domain, Inhibits Blood Vessel Formation, and Suppresses Tumor Growth
- (2011) Roselyne Castonguay et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia
- (2011) Bassam R. Ali et al. PLoS One
- Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations
- (2010) N. Ricard et al. BLOOD
- Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment
- (2010) Claire L. Shovlin BLOOD REVIEWS
- Update on molecular diagnosis of hereditary hemorrhagic telangiectasia
- (2010) Jennifer Richards-Yutz et al. HUMAN GENETICS
- Hereditary hemorrhagic telangiectasia: from molecular biology to patient care
- (2010) S. DUPUIS-GIROD et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Bone Morphogenetic Protein-9 Is a Circulating Vascular Quiescence Factor
- (2008) Laurent David et al. CIRCULATION RESEARCH
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