Associated Papers
Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.
Proust C et al.
Communications Biology, 2025
40681766 (PubMed )
Supplement: 42003_2025_8461_MOESM4_ESM.xlsx › Supp._Data_3_mult._consequences
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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