Article
Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.
Blood - 30 May 2024
Bernabéu-Herrero Maria E, Patel Dilipkumar, Bielowka Adrianna, Zhu JiaYi, Jain Kinshuk, Mackay Ian S, Chaves Guerrero Patricia, Emanuelli Giulia, Jovine Luca, Noseda Michela, Marciniak Stefan J, Aldred Micheala A, Shovlin Claire L
Abstract excerpt
ABSTRACT: For monogenic diseases caused by pathogenic loss-of-function DNA variants, attention focuses on dysregulated gene-specific pathways, usually considering molecular subtypes together within causal genes. To better understand phenotypic variability in hereditary hemorrhagic telangiectasia (HHT), we subcategorized pathogenic DNA variants in ENG/endoglin, ACVRL1/ALK1, and SMAD4 if they generated premature...
Topics
- Humans
- Codon, Nonsense
- Telangiectasia, Hereditary Hemorrhagic
- Endoglin
- Activin Receptors, Type II
- Smad4 Protein
- Endothelial Cells
- Mutation
- Male
- Female