DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906

Abstract

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Authors/Creators:
Copyright, Publisher and Additional Information: © The Author(s) 2017. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/ 4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: phenotype; situs inversus; mutation; congenital heart disease; adenosine triphosphatases; carrier proteins; cell motility; cytoplasm; dynein atpase; embryo; homozygote; missense mutation; relationship - sibling; zebrafish; arm; cilia; heart; handedness; mice; vesicle; pathogenicity; heart looping; gene complementation; cardiac development
Dates:
  • Published: 1 February 2018
  • Accepted: 1 December 2017
  • Published (online): 7 December 2017
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
Funding Information:
FunderGrant number
Jules Thorn Charitable TrustNOT GIVEN
EU - European UnionHEALTH-F5-2010-241955
MRCMR/K011154/1
British Heart FoundationFS/13/32/30069
MRCMR/m000532/1
Depositing User: Symplectic Publications
Date Deposited: 06 Dec 2017 10:14
Last Modified: 06 Jul 2018 10:17
Status: Published
Publisher: Oxford University Press
Identification Number: https://doi.org/10.1093/hmg/ddx422

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