Mariam G. Aslanyan

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.

This study shows that loss of INPP5E in human retinal organoids disrupts photoreceptor outer segment membrane biogenesis and alters protein localization.

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 identifies homozygous mutations in PIK3C2A causing a new Mendelian disorder with short stature, skeletal abnormalities, cataracts, and ciliary dysfunction.