NIH R01 · 2024
Molecular Basis of Coats Plus Disease
The Coats plus syndrome is a rare and life-threatening genetic disorder characterized by multi-system developmental defects that lead to bilateral exudative retinopathy, retinal telangiectasias, growth retardation, intracranial calcifications, bone abnormalities, gastrointestinal vascular ectasias, and common early-aging pathological features. Like many other developmental disorders, Coats plus is caused by defects in genes involved in maintaining global genome integrity. Specifically, it is caused by loss-of-function mutations in the human CTC1/STN1/TEN1 (CST) complex, which is a trimeric complex that preferentially binds to G-rich ssDNA or ss-ds DNA junctions and is critical for…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.