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
Case Report: Clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia.
Wang QY et al.
Frontiers in Genetics, 2022
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K et al.
Bmc Medical Genomics, 2021
34872578 (PubMed )
Supplement: 12920_2021_1139_MOESM1_ESM.xlsx › ENG
Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1.
Saito T et al.
Cell Reports, 2017
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
Mallet C et al.
Human Molecular Genetics, 2015
A case of delayed-onset hereditary hemorrhagic telangiectasia with a frameshift ENG mutation.
Akagawa H et al.
Neurology India, 0
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