Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis.

ABSTRACT: Craniosynostosis (CS) is the second most prevalent inborn craniofacial malformation; it results from the premature fusion of cranial sutures and leads to dimorphisms of variable severity. CS is clinically heterogeneous, as it can be either a sporadic isolated defect, more frequently, or part of a syndromic phenotype with mendelian inheritance. The genetic basis of CS is also extremely heterogeneous, with nearly a hundred genes associated so far, mostly mutated in syndromic forms. Several genes can be categorised within partially overlapping pathways, including those causing defects of the primary cilium. The primary cilium is a cellular antenna serving as a signalling hub implicated in mechanotransduction, housing key molecular signals expressed on the ciliary membrane and in the cilioplas

SUBMITTER: Tiberio F 

PROVIDER: S-EPMC8306115 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature