Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

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

Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations

(2012) Alistair N. Hume et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Endoplasmic Reticulum Quality Control Is Involved in the Mechanism of Endoglin-Mediated Hereditary Haemorrhagic Telangiectasia

(2011) Bassam R. Ali et al.   PLoS One

Overlapping spectra ofSMAD4mutations in juvenile polyposis (JP) and JP-HHT syndrome

(2010) Carol Gallione et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Involvement of the TGF-β superfamily signalling pathway in hereditary haemorrhagic telangiectasia

(2010) Carmelo Bernabéu et al.   Journal of Applied Biomedicine

Hereditary haemorrhagic telangiectasia: a clinical and scientific review

(2009) Fatima S Govani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Transforming Growth Factor β Can Stimulate Smad1 Phosphorylation Independently of Bone Morphogenic Protein Receptors

(2009) Katharine H. Wrighton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Endoglin in angiogenesis and vascular diseases

(2008) Peter ten Dijke et al.   ANGIOGENESIS

Bone Morphogenetic Protein-9 Is a Circulating Vascular Quiescence Factor

(2008) Laurent David et al.   CIRCULATION RESEARCH