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@article{1809357,
author = {Poovakulathu Abraham, Sara and Nită, Alexandru and Krejčí, Pavel and Bosáková, Michaela},
article_location = {United States},
article_number = {4},
doi = {http://dx.doi.org/10.1002/dvdy.426},
keywords = {cilia kinase; ciliopathy; endochondral bone formation; primary cilia; skeletal ciliopathy; skeletal dysplasia; skeletogenesis},
language = {eng},
issn = {1058-8388},
journal = {Developmental dynamics},
title = {Cilia kinases in skeletal development and homeostasis},
url = {https://anatomypubs.onlinelibrary.wiley.com/doi/10.1002/dvdy.426},
volume = {251},
year = {2022}
}
TY - JOUR
ID - 1809357
AU - Poovakulathu Abraham, Sara - Nită, Alexandru - Krejčí, Pavel - Bosáková, Michaela
PY - 2022
TI - Cilia kinases in skeletal development and homeostasis
JF - Developmental dynamics
VL - 251
IS - 4
SP - 577-608
EP - 577-608
PB - Wiley-Liss
SN - 10588388
KW - cilia kinase
KW - ciliopathy
KW - endochondral bone formation
KW - primary cilia
KW - skeletal ciliopathy
KW - skeletal dysplasia
KW - skeletogenesis
UR - https://anatomypubs.onlinelibrary.wiley.com/doi/10.1002/dvdy.426
N2 - 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.
ER -
POOVAKULATHU ABRAHAM, Sara, Alexandru NIT$\backslash$U A, Pavel KREJČÍ a Michaela BOSÁKOVÁ. Cilia kinases in skeletal development and homeostasis. \textit{Developmental dynamics}. United States: Wiley-Liss, 2022, roč.~251, č.~4, s.~577-608. ISSN~1058-8388. Dostupné z: https://dx.doi.org/10.1002/dvdy.426.
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