Associated Papers
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
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1.
Saito T et al.
Cell Reports, 2017
Investigation of endoglin wild-type and missense mutant protein heterodimerisation using fluorescence microscopy based IF, BiFC and FRET analyses.
Förg T et al.
Plos One, 2014
Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.
Ali BR et al.
Plos One, 2011
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J et al.
Human Genetics, 2010
Structural model of human endoglin, a transmembrane receptor responsible for hereditary hemorrhagic telangiectasia.
Llorca O et al.
Journal of Molecular Biology, 2007
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
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
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
Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.
Lux A et al.
Human Molecular Genetics, 2000
Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1.
Pece-Barbara N et al.
Human Molecular Genetics, 1999
Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms.
Shovlin CL et al.
Thorax, 1999
Genetic abnormalities in hereditary hemorrhagic telangiectasia.
Marchuk DA
Current Opinion in Hematology, 1998
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
Gallione CJ et al.
Human Mutation, 1998
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