Associated Papers
Targeting a Pathogenic Variant Creating an Upstream AUG in the ENG 5' Untranslated Region with Antisense Oligonucleotides Fails to Restore Protein Expression.
Doisy M et al.
Nucleic Acid Therapeutics, 2025
Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.
Proust C et al.
Communications Biology, 2025
The ENG/VEGFα Pathway Is Likely Affected by a Nonsense Variant of Endoglin (ENG)/CD105, Causing Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) in a Chinese Family.
Liu K et al.
Genes, 2024
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Soukarieh O et al.
Npj Genomic Medicine, 2023
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
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