2021/09/28 by Sara P. Abraham, Alexandru Niţă, Alexandru Nita +4
Biochemistry, Genetics and Molecular Biology · #Genetic and Kidney Cyst Diseases #Hedgehog Signaling Pathway Studies #Renal and related cancers
paper · pdf · doi:10.1002/dvdy.426
openalex publication_date 2021/09/28 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
Primary cilia are dynamic compartments that regulate multiple aspects of cellular signaling. The production, maintenance, and function of cilia involve more than 1000 genes in mammals, and their mutations disrupt the ciliary signaling which manifests in a plethora of pathological conditions-the ciliopathies. Skeletal ciliopathies are genetic disorders affecting the development and homeostasis of the skeleton, and encompass a broad spectrum of pathologies ranging from isolated polydactyly to lethal syndromic dysplasias. The recent advances in forward genetics allowed for the identification of novel regulators of skeletogenesis, and revealed a growing list of ciliary proteins that are critical for signaling pathways implicated in bone physiology. Among these, a group of protein kinases involved in cilia assembly, maintenance, signaling, and disassembly has emerged. In this review, we summarize the functions of cilia kinases in skeletal development and disease, and discuss the available and upcoming treatment options.