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Cilia and Ciliopathies in Congenital Heart Disease

Cold Spring Harbor perspectives in biology, 2017-08, Vol.9 (8), p.a028266 [Peer Reviewed Journal]

Copyright © 2017 Cold Spring Harbor Laboratory Press; all rights reserved. ;2017 ;ISSN: 1943-0264 ;EISSN: 1943-0264 ;DOI: 10.1101/cshperspect.a028266 ;PMID: 28159874

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  • Title:
    Cilia and Ciliopathies in Congenital Heart Disease
  • Author: Klena, Nikolai T ; Gibbs, Brian C ; Lo, Cecilia W
  • Subjects: Animals ; Cilia - physiology ; Ciliopathies - complications ; Heart Defects, Congenital - etiology ; Humans ; PERSPECTIVES
  • Is Part Of: Cold Spring Harbor perspectives in biology, 2017-08, Vol.9 (8), p.a028266
  • Description: A central role for cilia in congenital heart disease (CHD) was recently identified in a large-scale mouse mutagenesis screen. Although the screen was phenotype-driven, the majority of genes recovered were cilia-related, suggesting that cilia play a central role in CHD pathogenesis. This partly reflects the role of cilia as a hub for cell signaling pathways regulating cardiovascular development. Consistent with this, many cilia-transduced cell signaling genes were also recovered, and genes regulating vesicular trafficking, a pathway essential for ciliogenesis and cell signaling. Interestingly, among CHD-cilia genes recovered, some regulate left-right patterning, indicating cardiac left-right asymmetry disturbance may play significant roles in CHD pathogenesis. Clinically, CHD patients show a high prevalence of ciliary dysfunction and show enrichment for de novo mutations in cilia-related pathways. Combined with the mouse findings, this would suggest CHD may be a new class of ciliopathy.
  • Publisher: United States: Cold Spring Harbor Laboratory Press
  • Language: English
  • Identifier: ISSN: 1943-0264
    EISSN: 1943-0264
    DOI: 10.1101/cshperspect.a028266
    PMID: 28159874
  • Source: GFMER Free Medical Journals
    MEDLINE
    PubMed Central
    Alma/SFX Local Collection
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