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Cilia kinases in skeletal development and homeostasis
SP. Abraham, A. Nita, P. Krejci, M. Bosakova
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, přehledy, práce podpořená grantem
Medline Complete (EBSCOhost) od 2012-07-01 do Před 1 rokem
Odkazy
PubMed
34582081
DOI
10.1002/dvdy.426
Knihovny.cz E-zdroje
- MeSH
- cilie metabolismus MeSH
- ciliopatie * genetika patologie MeSH
- homeostáza MeSH
- polydaktylie * genetika MeSH
- proteiny genetika MeSH
- savci MeSH
- zvířata MeSH
- Check Tag
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
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.
Department of Biology Faculty of Medicine Masaryk University Brno Czech Republic
Institute of Animal Physiology and Genetics of the CAS Brno Czech Republic
International Clinical Research Center St Anne's University Hospital Brno Czech Republic
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- $a 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.
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