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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
Nature Genetics, Volume 43, No. 1, Year 2011
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Description
Functional impairment of DNA damage response pathways leads to increased genomic instability. Here we describe the centrosomal protein CEP152 as a new regulator of genomic integrity and cellular response to DNA damage. Using homozygosity mapping and exome sequencing, we identified CEP152 mutations in Seckel syndrome and showed that impaired CEP152 function leads to accumulation of genomic defects resulting from replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation. © 2011 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Kalay, Ersan
Turkey, Trabzon
Karadeniz Technical University
Yigit, Gökhan
Germany, Koln
Universität zu Köln
Aslan, Yakup
Turkey, Trabzon
Karadeniz Technical University
Brown, Karen E.
United Kingdom, London
Hammersmith Hospital
Pohl, Esther
Germany, Koln
Universität zu Köln
Bicknell, Louise S.
United Kingdom, Edinburgh
Western General Hospital
Kayserili, Hülya U.
Turkey, Istanbul
İstanbul Tıp Fakültesi
Li, Yun
Germany, Koln
Universität zu Köln
Tüysüz, Beyhan
Turkey, Istanbul
İstanbul University-cerrahpaşa Cerrahpaşa Faculty of Medicine
Nürnberg, Gudrun
Germany, Koln
Universität zu Köln
Germany, Koln
Medizinische Fakultät
Kiess, Wieland
Germany, Leipzig
Universität Leipzig
Koegl, Manfred
Germany, Heidelberg
German Cancer Research Center
Baessmann, Ingelore
Germany, Koln
Universität zu Köln
Germany, Koln
Medizinische Fakultät
Buruk, Kurtulus
Turkey, Trabzon
Karadeniz Technical University
Toraman, Bayram
Turkey, Trabzon
Karadeniz Technical University
Kayipmaz, Saadettin
Turkey, Trabzon
Karadeniz Technical University
Kul, Sibel
Turkey, Trabzon
Karadeniz Technical University
Ikbal, Mevlit
Turkey, Trabzon
Karadeniz Technical University
Turner, Daniel J.
United Kingdom, Hinxton
Wellcome Sanger Institute
Taylor, Martin S.
United Kingdom, Edinburgh
Western General Hospital
Aerts, Jan A.
United Kingdom, Hinxton
Wellcome Sanger Institute
Scott, Carol E.
United Kingdom, Hinxton
Wellcome Sanger Institute
Milstein, Karen
South Africa, Johannesburg
University of the Witwatersrand
Dollfus, Hélène J.
France, Strasbourg
Les Hôpitaux Universitaires de Strasbourg
Wieczorek, Dagmar
Germany, Essen
Universitätsklinikum Essen
Brunner, Han G.
Netherlands, Nijmegen
Radboud University Medical Center
Hurles, Matthew E.
United Kingdom, Hinxton
Wellcome Sanger Institute
Jackson, Andrew P.
United Kingdom, Edinburgh
Western General Hospital
Rauch, Anita M.
Switzerland, Zurich
Universität Zürich
Nürnberg, Peter
Germany, Koln
Universität zu Köln
Germany, Koln
Medizinische Fakultät
Karaguzel, Ahmet
Turkey, Trabzon
Karadeniz Technical University
Wollnik, Bernd
Germany, Koln
Universität zu Köln
Statistics
Citations: 233
Authors: 32
Affiliations: 15
Identifiers
Doi:
10.1038/ng.725
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics