Anna Di Rienzo

The paper investigates the role of the EPAS1 enhancer ENH5 in adipocytes, showing its conditional effects on thermogenesis and adipocyte differentiation under hypoxia and thermogenic stimulation.

The paper compares transcriptomes of iPSC-derived cardiomyocytes from Tibetan and Han Chinese populations under hypoxia, identifying pathway differences linked to high-altitude adaptation.

This study identifies a genetic variant at 1p32.2 that regulates endothelial responses to hemodynamics by modulating an enhancer region in vascular endothelium.

The paper analyzes ancient DNA from the Andes to reveal genetic adaptations and population dynamics over 7,000 years, showing a split between high and lowland populations and a severe post-European-contact collapse.

The paper identifies genetic evidence of positive and negative selection in Tibetan women from Nepal related to reproductive traits and offspring survival.