NIH R01 · 2025
The role of primary cilia and C2cd3 in craniofacial skeletogenesis
ABSTRACT: Primary cilia are ubiquitous, microtubule-based extensions that transduce molecular signals within a cell. Defects in primary cilia result in ciliopathies, a pleiotropic group of debilitating, and sometimes life-threatening disorders. One third of ciliopathies are defined by severe craniofacial anomalies. Currently there are no recognized treatments for these patients, mostly because we have an incomplete understanding of how the cilium integrates cellular/molecular signals and influences cell behaviors. Oral-facial-digital syndrome 14 (OFD14) is a human ciliopathy that is caused by mutations in the centriolar protein, C2 Calcium-Dependent Domain Containing 3 (C2CD3) and is…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.