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Motile and non-motile cilia in human pathology: from function to phenotypes

Mitchison, HM; Valente, EM; (2017) Motile and non-motile cilia in human pathology: from function to phenotypes. The Journal of Pathology , 241 (2) pp. 294-309. 10.1002/path.4843. Green open access

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Abstract

Ciliopathies are inherited human disorders caused by both motile and non-motile cilia dysfunction that form an important and rapidly expanding disease category. Ciliopathies are complex conditions to diagnose, being multisystem disorders characterized by extensive genetic heterogeneity and clinical variability with high levels of lethality. There is marked phenotypic overlap among distinct ciliopathy syndromes that presents a major challenge for their recognition, diagnosis, and clinical management, in addition to posing an on-going task to develop the most appropriate family counselling. The impact of next-generation sequencing and high-throughput technologies in the last decade has significantly improved our understanding of the biological basis of ciliopathy disorders, enhancing our ability to determine the possible reasons for the extensive overlap in their symptoms and genetic aetiologies. Here, we review the diverse functions of cilia in human health and disease and discuss a growing shift away from the classical clinical definitions of ciliopathy syndromes to a more functional categorization. This approach arises from our improved understanding of this unique organelle, revealed through new genetic and cell biological insights into the discrete functioning of subcompartments of the cilium (basal body, transition zone, intraflagellar transport, motility). Mutations affecting these distinct ciliary protein modules can confer different genetic diseases and new clinical classifications are possible to define, according to the nature and extent of organ involvement. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Type: Article
Title: Motile and non-motile cilia in human pathology: from function to phenotypes
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/path.4843
Publisher version: http://doi.org/10.1002/path.4843
Language: English
Additional information: Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. This is the peer reviewed version of the following article: Mitchison, HM; Valente, EM; (2017) Motile and non-motile cilia in human pathology: from function to phenotypes. The Journal of Pathology , 241 (2) pp. 294-309. 10.1002/path.4843, which has been published in final form at http://doi.org/10.1002/path.4843. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
Keywords: Bardet-Biedl syndrome, Joubert syndrome, Meckel syndrome, cilia, ciliogenesis, ciliopathies, kidney cystic diseases, oral-facial-digital syndrome, signalling, skeletal dysplasia
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1537420
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