Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia

Abstract Hereditary Hemorrhagic Telangiectasia (HHT) is a rare vascular disease mainly caused by pathogenic mutations in ACVRL1 and ENG genes. Despite advances in HHT diagnosis, the molecular origin of some cases remains unclear. Recently, we observed a high prevalence of HHT-causing 5’UTR variants...

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Main Authors: Carole Proust, Clémence Deiber, Caroline Meguerditchian, Maud Tusseau, Alexandre Guilhem, Shirine Mohamed, Aurélie Goyenvalle, Béatrice Jaspard-Vinassa, Sophie Dupuis-Girod, David-Alexandre Trégouët, Omar Soukarieh
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-025-08461-6
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https://doi.org/10.1038/s42003-025-08461-6

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