Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
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Published:2014-10-26
Issue:12
Volume:46
Page:1283-1292
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Martin Carol-Anne, Ahmad Ilyas, Klingseisen Anna, Hussain Muhammad Sajid, Bicknell Louise S, Leitch Andrea, Nürnberg Gudrun, Toliat Mohammad Reza, Murray Jennie E, Hunt David, Khan Fawad, Ali Zafar, Tinschert Sigrid, Ding James, Keith Charlotte, Harley Margaret E, Heyn Patricia, Müller Rolf, Hoffmann Ingrid, Daire Valérie Cormier, Dollfus Hélène, Dupuis Lucie, Bashamboo Anu, McElreavey Kenneth, Kariminejad Ariana, Mendoza-Londono RobertoORCID, Moore Anthony T, Saggar Anand, Schlechter Catie, Weleber Richard, Thiele Holger, Altmüller Janine, Höhne Wolfgang, Hurles Matthew E, Noegel Angelika Anna, Baig Shahid Mahmood, Nürnberg Peter, Jackson Andrew P
Publisher
Springer Science and Business Media LLC
Reference51 articles.
1. Nigg, E.A. & Raff, J.W. Centrioles, centrosomes, and cilia in health and disease. Cell 139, 663–678 (2009). 2. Bettencourt-Dias, M., Hildebrandt, F., Pellman, D., Woods, G. & Godinho, S.A. Centrosomes and cilia in human disease. Trends Genet. 27, 307–315 (2011). 3. Sir, J.H. et al. Loss of centrioles causes chromosomal instability in vertebrate somatic cells. J. Cell Biol. 203, 747–756 (2013). 4. Ganem, N.J., Godinho, S.A. & Pellman, D. A mechanism linking extra centrosomes to chromosomal instability. Nature 460, 278–282 (2009). 5. Gönczy, P. Towards a molecular architecture of centriole assembly. Nat. Rev. Mol. Cell Biol. 13, 425–435 (2012).
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