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CEP152 is a genome maintenance protein disrupted in Seckel syndrome

dc.contributor.authorToraman, Bayram
dc.contributor.authorKayipmaz, Saadettin
dc.contributor.authorKul, Sibel
dc.contributor.authorIkbal, Mevlit
dc.contributor.authorTURNER, Daniel J.
dc.contributor.authorTaylor, Martin S.
dc.contributor.authorAerts, Jan
dc.contributor.authorSCOTT, Carol
dc.contributor.authorMilstein, Karen
dc.contributor.authorDollfus, Helene
dc.contributor.authorKayserili, Hulya
dc.contributor.authorTuysuz, Beyhan
dc.contributor.authorWIECZOREK, Dagmar
dc.contributor.authorBRUNNER, Han G.
dc.contributor.authorHURLES, Matthew
dc.contributor.authorJackson, Andrew P.
dc.contributor.authorRauch, Anita
dc.contributor.authorNUERNBERG, Peter
dc.contributor.authorKaraguzel, Ahmet
dc.contributor.authorWollnik, Bernd
dc.contributor.authorKalay, Ersan
dc.contributor.authorYIGIT, Goekhan
dc.contributor.authorASLAN, YAKUP
dc.contributor.authorBROWN, Karen E.
dc.contributor.authorPohl, Esther
dc.contributor.authorBicknell, Louise S.
dc.contributor.authorLi, Yun
dc.contributor.authorNUERNBERG, Gudrun
dc.contributor.authorKIESS, Wieland
dc.contributor.authorKoegl, Manfred
dc.contributor.authorBaessmann, Ingelore
dc.contributor.authorBuruk, Kurtulus
dc.date.accessioned2021-03-05T21:11:08Z
dc.date.available2021-03-05T21:11:08Z
dc.date.issued2011
dc.identifier.citationKalay E., YIGIT G., ASLAN Y., BROWN K. E. , Pohl E., Bicknell L. S. , Kayserili H., Li Y., Tuysuz B., NUERNBERG G., et al., "CEP152 is a genome maintenance protein disrupted in Seckel syndrome", NATURE GENETICS, cilt.43, ss.23-26, 2011
dc.identifier.issn1061-4036
dc.identifier.othervv_1032021
dc.identifier.otherav_d7a85930-1a08-48a8-92dd-f97beb743df3
dc.identifier.urihttp://hdl.handle.net/20.500.12627/142303
dc.identifier.urihttps://doi.org/10.1038/ng.725
dc.description.abstractFunctional 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.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectGENETİK VE HAYAT
dc.titleCEP152 is a genome maintenance protein disrupted in Seckel syndrome
dc.typeMakale
dc.relation.journalNATURE GENETICS
dc.contributor.departmentUniversity of Duisburg Essen , ,
dc.identifier.volume43
dc.identifier.issue1
dc.identifier.startpage23
dc.identifier.endpage26
dc.contributor.firstauthorID9599


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