Primary cilia as dynamic and diverse signalling hubs in development and disease

Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt

Standard

Primary cilia as dynamic and diverse signalling hubs in development and disease. / Mill, Pleasantine; Christensen, Søren T; Pedersen, Lotte B.

I: Nature Reviews. Genetics, Bind 24, 2023.

Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt

Harvard

Mill, P, Christensen, ST & Pedersen, LB 2023, 'Primary cilia as dynamic and diverse signalling hubs in development and disease', Nature Reviews. Genetics, bind 24. https://doi.org/10.1038/s41576-023-00587-9

APA

Mill, P., Christensen, S. T., & Pedersen, L. B. (2023). Primary cilia as dynamic and diverse signalling hubs in development and disease. Nature Reviews. Genetics, 24. https://doi.org/10.1038/s41576-023-00587-9

Vancouver

Mill P, Christensen ST, Pedersen LB. Primary cilia as dynamic and diverse signalling hubs in development and disease. Nature Reviews. Genetics. 2023;24. https://doi.org/10.1038/s41576-023-00587-9

Author

Mill, Pleasantine ; Christensen, Søren T ; Pedersen, Lotte B. / Primary cilia as dynamic and diverse signalling hubs in development and disease. I: Nature Reviews. Genetics. 2023 ; Bind 24.

Bibtex

@article{15095a66af934283a65e9a2caee3663e,

title = "Primary cilia as dynamic and diverse signalling hubs in development and disease",

abstract = "Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate cell types, are essential for regulating signalling pathways during development and adult homeostasis. Mutations in genes affecting cilia cause an overlapping spectrum of >30 human diseases and syndromes, the ciliopathies. Given the immense structural and functional diversity of the mammalian cilia repertoire, there is a growing disconnect between patient genotype and associated phenotypes, with variable severity and expressivity characteristic of the ciliopathies as a group. Recent technological developments are rapidly advancing our understanding of the complex mechanisms that control biogenesis and function of primary cilia across a range of cell types and are starting to tackle this diversity. Here, we examine the structural and functional diversity of primary cilia, their dynamic regulation in different cellular and developmental contexts and their disruption in disease.",

author = "Pleasantine Mill and Christensen, {S{\o}ren T} and Pedersen, {Lotte B}",

note = "{\textcopyright} 2023. Springer Nature Limited.",

year = "2023",

doi = "10.1038/s41576-023-00587-9",

language = "English",

volume = "24",

journal = "Nature Reviews. Genetics",

issn = "1471-0056",

publisher = "nature publishing group",

}

RIS

TY - JOUR

T1 - Primary cilia as dynamic and diverse signalling hubs in development and disease

AU - Mill, Pleasantine

AU - Christensen, Søren T

AU - Pedersen, Lotte B

PY - 2023

Y1 - 2023

N2 - Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate cell types, are essential for regulating signalling pathways during development and adult homeostasis. Mutations in genes affecting cilia cause an overlapping spectrum of >30 human diseases and syndromes, the ciliopathies. Given the immense structural and functional diversity of the mammalian cilia repertoire, there is a growing disconnect between patient genotype and associated phenotypes, with variable severity and expressivity characteristic of the ciliopathies as a group. Recent technological developments are rapidly advancing our understanding of the complex mechanisms that control biogenesis and function of primary cilia across a range of cell types and are starting to tackle this diversity. Here, we examine the structural and functional diversity of primary cilia, their dynamic regulation in different cellular and developmental contexts and their disruption in disease.

AB - Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate cell types, are essential for regulating signalling pathways during development and adult homeostasis. Mutations in genes affecting cilia cause an overlapping spectrum of >30 human diseases and syndromes, the ciliopathies. Given the immense structural and functional diversity of the mammalian cilia repertoire, there is a growing disconnect between patient genotype and associated phenotypes, with variable severity and expressivity characteristic of the ciliopathies as a group. Recent technological developments are rapidly advancing our understanding of the complex mechanisms that control biogenesis and function of primary cilia across a range of cell types and are starting to tackle this diversity. Here, we examine the structural and functional diversity of primary cilia, their dynamic regulation in different cellular and developmental contexts and their disruption in disease.

U2 - 10.1038/s41576-023-00587-9

DO - 10.1038/s41576-023-00587-9

M3 - Review

C2 - 37072495

VL - 24

JO - Nature Reviews. Genetics

JF - Nature Reviews. Genetics

SN - 1471-0056

ER -

ID: 343357147

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