A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH.
Activation of sonic hedgehog signaling by a Smoothened agonist restores congenital defects in mouse models of endocrine-cerebro-osteodysplasia syndrome.
Shin JO, Song J, Choi HS, Lee J, Lee K, Ko HW, Bok J.
EBioMedicine. 2019 Nov;49:305-317. doi: 10.1016/j.ebiom.2019.10.016. Epub 2019 Oct 26.
PMID:31662288
Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling.
Moon H, Song J, Shin JO, Lee H, Kim HK, Eggenschwiller JT, Bok J, Ko HW.
Proc Natl Acad Sci U S A. 2014 Jun 10;111(23):8541-6. doi: 10.1073/pnas.1323161111. Epub 2014 May 22.
PMID:24853502
Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice.