Cilia kinases in skeletal development and homeostasis

J 2022

Cilia kinases in skeletal development and homeostasis

POOVAKULATHU ABRAHAM, Sara, Alexandru NITĂ, Pavel KREJČÍ and Michaela BOSÁKOVÁ

Basic information

Original name

Cilia kinases in skeletal development and homeostasis

Authors

POOVAKULATHU ABRAHAM, Sara (356 India, belonging to the institution), Alexandru NITĂ (642 Romania, belonging to the institution), Pavel KREJČÍ (203 Czech Republic, belonging to the institution) and Michaela BOSÁKOVÁ (203 Czech Republic, guarantor, belonging to the institution)

Edition

Developmental dynamics, United States, Wiley-Liss, 2022, 1058-8388

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30106 Anatomy and morphology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 2.500

RIV identification code

RIV/00216224:14110/22:00125089

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1002/dvdy.426

UT WoS

000708091000001

Keywords in English

cilia kinase; ciliopathy; endochondral bone formation; primary cilia; skeletal ciliopathy; skeletal dysplasia; skeletogenesis

Abstract

V originále

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.

Links

EF19_073/0016943, research and development project

Name: Interní grantová agentura Masarykovy univerzity

MUNI/A/1418/2021, interní kód MU

Name: Biomedicínské vědy II (Acronym: BIOMED)

Investor: Masaryk University

Citovat

POOVAKULATHU ABRAHAM, Sara, Alexandru NITĂ, Pavel KREJČÍ and Michaela BOSÁKOVÁ. Cilia kinases in skeletal development and homeostasis. Developmental dynamics. United States: Wiley-Liss, 2022, vol. 251, No 4, p. 577-608. ISSN 1058-8388. Available from: https://dx.doi.org/10.1002/dvdy.426.

@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 and Michaela BOSÁKOVÁ. Cilia kinases in skeletal development and homeostasis. \textit{Developmental dynamics}. United States: Wiley-Liss, 2022, vol.~251, No~4, p.~577-608. ISSN~1058-8388. Available from: https://dx.doi.org/10.1002/dvdy.426.

Detailed Information on Publication Record