Article

Unveiling Endoglin non canonical regulation: spotlight on the new role of the uPAR pathway

2024-01-30

Abstract excerpt

Endoglin, encoded by ENG , is a transmembrane glycoprotein crucial for endothelial cell biology. Loss-of-function ENG variants cause Hereditary Hemorrhagic Telangiectasia (HHT). Despite advances in HHT diagnosis and management, the molecular origin of some cases and the source of clinical heterogeneity remain unclear. We propose a comprehensive in silico analysis of all 5’UTR ENG single nucleotide variants that co...

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Literature Corpus work: c1ad03a2-79e1-598c-ac25-4848096d8a1e
DOI: 10.1101/2024.01.28.24301864

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