Gaurav D. Diwan

The paper identifies primary cilia as a signaling platform for c-KIT in pancreatic alpha cells, showing that c-KIT signaling via SCF promotes proliferation and may contribute to hyperglucagonemia in obesity and diabetes.

The paper integrates phylogenomics and functional annotations to trace gene function evolution across species, revealing convergent adaptations in multicellular and terrestrial transitions.

Proteorizer contextualizes variants of unknown significance by integrating functional knowledge from related proteins and their 3D structures to predict functional consequences.

This study shows DLG1 regulates ciliary protein trafficking in kidney cells, with loss of DLG1 causing ciliary elongation and cysts, and a specific DLG1 variant linked to kidney disease.

The paper investigates the role of BBS1 in suppressing mesenchymal cell identities in epithelial cells, showing clonal variability and dysregulation of EMT genes across tissues.