Associated Papers
Familial multiple fetal cerebral arteriovenous malformations: a case report of maternal genetic susceptibility and fetal manifestation.
Wang H et al.
Frontiers in Genetics, 2025
The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.
Gariballa N et al.
Journal of Biomedical Science, 2024
Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele.
Gariballa N et al.
Traffic (copenhagen, Denmark), 2024
Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia.
Gaetani E et al.
Journal of Clinical Medicine, 2022
Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.
Ruiz-Llorente L et al.
Gene, 2019
Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1.
Saito T et al.
Cell Reports, 2017
Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.
Ali BR et al.
Plos One, 2011
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL et al.
Journal of Medical Genetics, 2006
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
Hereditary hemorrhagic telangiectasia: an update on transforming growth factor beta signaling in vasculogenesis and angiogenesis.
van den Driesche S et al.
Cardiovascular Research, 2003
Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function.
Paquet ME et al.
Human Molecular Genetics, 2001
Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.
Bayrak-Toydemir P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Select a paper to view details