Fernando Abaitua

Loss of RREB1 reduces adipogenesis and improves insulin sensitivity in mouse and human adipocytes

This study shows that reducing RREB1 in mice and humans decreases adipogenesis and improves insulin sensitivity, linking RREB1 to type 2 diabetes risk.

PAX4 loss of function alters human endocrine cell development and influences diabetes risk

This study shows that PAX4 variants reduce beta cell function and increase diabetes risk by impairing insulin secretion and hormone gene expression in human cells.

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

This study identifies 277 T2D loci using diverse populations and improves fine-mapping to assess causal genes and mechanisms, enhancing clinical translation.

Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals

The paper uses deep learning models to predict regulatory variants in pancreatic islets and refines T2D association signals by integrating epigenomic data with genetic fine-mapping.

Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

The paper shows that a loss-of-function variant in ZnT8 improves insulin secretion and protects against type 2 diabetes by enhancing glucose responsiveness and proinsulin conversion.