Anthony R. Anzell

Hereditary hemorrhagic telangiectasia prevalence estimates calculated from gnomAD allele frequencies of predicted pathogenic variants in ENG and ACVRL1

The paper estimates HHT prevalence using gnomAD variant frequencies and three methods, finding it 2-12 times higher than current estimates.

Blood flow regulates acvrl1 transcription via ligand-dependent Alk1 activity

The paper shows that blood flow and Bmp10 regulate acvrl1 transcription in zebrafish and human endothelial cells through Alk1 signaling.