Associated Papers
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
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K et al.
Bmc Medical Genomics, 2021
Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1.
Saito T et al.
Cell Reports, 2017
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J et al.
Human Genetics, 2010
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.
Brakensiek K et al.
Clinical Genetics, 2008
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.
Gedge F et al.
The Journal of Molecular Diagnostics : Jmd, 2007
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
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients.
Schulte C et al.
Human Mutation, 2005
Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.
Kuehl HK et al.
Human Mutation, 2005
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 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