Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy-Reference-Cited by-同舟云学术

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Published:2014-10-26 Issue:12 Volume:46 Page:1283-1292
ISSN:1061-4036
Container-title:Nature Genetics
language:en
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 Roberto^ORCID,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

Subject

Genetics

Link

http://www.nature.com/articles/ng.3122.pdf

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).

Cited by 153 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Two-Compound Heterozygous Deletions Affecting <i>TUBGCP6</i> in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation;Molecular Syndromology;2024-06-10

2. Loss-of-function of kinesin-5 KIF11 causes microcephaly, chorioretinopathy, and developmental disorders through chromosome instability and cell cycle arrest;Experimental Cell Research;2024-03

3. Therapeutic potential of targeting polo-like kinase 4;European Journal of Medicinal Chemistry;2024-02

4. Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192;Human Genetics and Genomics Advances;2024-01

5. Plk4 Regulates Centriole Duplication in the Embryonic Development of Zebrafish;2024