Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.
Sezer A et al.
European Journal of Human Genetics : Ejhg, 2025
An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling.
Limerick A et al.
Cells, 2024
An epilepsy-associated CILK1 variant compromises KATNIP regulation and impairs primary cilia and Hedgehog signaling.
Limerick A et al.
Biorxiv : the Preprint Server for Biology, 2024
Modulation of Primary Cilia by Alvocidib Inhibition of CILK1.
Wang EX et al.
International Journal of Molecular Sciences, 2022
Cilia kinases in skeletal development and homeostasis.
Abraham SP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
Post-translational modification enzymes as key regulators of ciliary protein trafficking.
Chaya T et al.
Journal of Biochemistry, 2021
Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK.
Salvati KA et al.
International Journal of Molecular Sciences, 2021
Phosphosite T674A mutation in kinesin family member 3A fails to reproduce tissue and ciliary defects characteristic of CILK1 loss of function.
Gailey CD et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021
Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy.
Wang EJ et al.
Cells, 2020
Ciliogenesis associated kinase 1: targets and functions in various organ systems.
Fu Z et al.
Febs Letters, 2019
Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis.
Oh YS et al.
Cells, 2019
Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase.
Kunova Bosakova M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy.
Gilsoul M et al.
Frontiers in Cellular Neuroscience, 2019
Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice.
Tsutsumi R et al.
Gene Expression Patterns : Gep, 2018
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
Bailey JN et al.
The New England Journal of Medicine, 2018
A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development.
Ding M et al.
Calcified Tissue International, 2018
An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human ECO syndrome.
Tong Y et al.
Febs Letters, 2017
Ick Ciliary Kinase Is Essential for Planar Cell Polarity Formation in Inner Ear Hair Cells and Hearing Function.
Okamoto S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
Paige Taylor S et al.
Human Molecular Genetics, 2016
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.
Oud MM et al.
Cilia, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling.
Moon H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport.
Chaya T et al.
The Embo Journal, 2014
Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing.
Lahiry P et al.
Plos One, 2011
The promoter for intestinal cell kinase is head-to-head with F-Box 9 and contains functional sites for TCF7L2 and FOXA factors.
Sturgill TW et al.
Molecular Cancer, 2010
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.
Lahiry P et al.
American Journal of Human Genetics, 2009