CEP152 is a genome maintenance protein disrupted in Seckel syndrome

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 i...

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Main Authors: Kalay, Ersan, Yigit, Gökhan, Aslan, Yakup, Brown, Karen E, Pohl, Esther, Bicknell, Louise S, Kayserili, Hülya, Li, Yun, Tüysüz, Beyhan, Nürnberg, Gudrun, Kiess, Wieland, Koegl, Manfred, Baessmann, Ingelore, Buruk, Kurtulus, Toraman, Bayram, Kayipmaz, Saadettin, Kul, Sibel, Ikbal, Mevlit, Turner, Daniel J, Taylor, Martin S, Aerts, Jan, Scott, Carol, Milstein, Karen, Dollfus, Helene, Wieczorek, Dagmar, Brunner, Han G, Hurles, Matthew, Jackson, Andrew P, Rauch, Anita, Nürnberg, Peter, Karagüzel, Ahmet, Wollnik, Bernd
格式: Artigo
語言:Inglês
出版: 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3430850/
https://ncbi.nlm.nih.gov/pubmed/21131973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.725
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