Please use this identifier to cite or link to this item: http://hdl.handle.net/1942/34325
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dc.contributor.authorKalay, E.-
dc.contributor.authorYigit, G.-
dc.contributor.authorAslan, Y.-
dc.contributor.authorBrown, K.E.-
dc.contributor.authorPohl, E.-
dc.contributor.authorBicknell, L.S.-
dc.contributor.authorKayserili, H.-
dc.contributor.authorLi, Y.-
dc.contributor.authorTüysüz, B.-
dc.contributor.authorNürnberg, G.-
dc.contributor.authorKiess, W.-
dc.contributor.authorKoegl, M.-
dc.contributor.authorBaessmann, I.-
dc.contributor.authorBuruk, K.-
dc.contributor.authorToraman, B.-
dc.contributor.authorKayipmaz, S.-
dc.contributor.authorKul, S.-
dc.contributor.authorIkbal, M.-
dc.contributor.authorTurner, D.J.-
dc.contributor.authorTaylor, M.S.-
dc.contributor.authorAERTS, Jan-
dc.contributor.authorScott, C.-
dc.contributor.authorMilstein, K.-
dc.contributor.authorDollfus, H.-
dc.contributor.authorWieczorek, D.-
dc.contributor.authorBrunner, H.G.-
dc.contributor.authorHurles, M.-
dc.contributor.authorJackson, A.P.-
dc.contributor.authorRauch, A.-
dc.contributor.authorNürnberg, P.-
dc.contributor.authorKaragüzel, A.-
dc.contributor.authorWollnik, B.-
dc.date.accessioned2021-06-23T07:44:36Z-
dc.date.available2021-06-23T07:44:36Z-
dc.date.issued2011-
dc.date.submitted2021-03-25T15:01:12Z-
dc.identifier.citationNATURE GENETICS, 43 (1) , p. 23 -26-
dc.identifier.urihttp://hdl.handle.net/1942/34325-
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.isoen-
dc.publisher-
dc.titleCEP152 is a genome maintenance protein disrupted in Seckel syndrome-
dc.typeJournal Contribution-
dc.identifier.epage26-
dc.identifier.issue1-
dc.identifier.spage23-
dc.identifier.volume43-
local.bibliographicCitation.jcatA1-
local.publisher.place75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA-
local.type.refereedRefereed-
local.type.specifiedArticle-
dc.identifier.doi10.1038/ng.725-
dc.identifier.scopus2-s2.0-78651248502-
dc.identifier.isiWOS:000285683500010-
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local.provider.typeOrcid-
local.uhasselt.uhpubno-
item.fulltextNo Fulltext-
item.contributorKalay, E.-
item.contributorYigit, G.-
item.contributorAslan, Y.-
item.contributorBrown, K.E.-
item.contributorPohl, E.-
item.contributorBicknell, L.S.-
item.contributorKayserili, H.-
item.contributorLi, Y.-
item.contributorTüysüz, B.-
item.contributorNürnberg, G.-
item.contributorKiess, W.-
item.contributorKoegl, M.-
item.contributorBaessmann, I.-
item.contributorBuruk, K.-
item.contributorToraman, B.-
item.contributorKayipmaz, S.-
item.contributorKul, S.-
item.contributorIkbal, M.-
item.contributorTurner, D.J.-
item.contributorTaylor, M.S.-
item.contributorAERTS, Jan-
item.contributorScott, C.-
item.contributorMilstein, K.-
item.contributorDollfus, H.-
item.contributorWieczorek, D.-
item.contributorBrunner, H.G.-
item.contributorHurles, M.-
item.contributorJackson, A.P.-
item.contributorRauch, A.-
item.contributorNürnberg, P.-
item.contributorKaragüzel, A.-
item.contributorWollnik, B.-
item.fullcitationKalay, E.; Yigit, G.; Aslan, Y.; Brown, K.E.; Pohl, E.; Bicknell, L.S.; Kayserili, H.; Li, Y.; Tüysüz, B.; Nürnberg, G.; Kiess, W.; Koegl, M.; Baessmann, I.; Buruk, K.; Toraman, B.; Kayipmaz, S.; Kul, S.; Ikbal, M.; Turner, D.J.; Taylor, M.S.; AERTS, Jan; Scott, C.; Milstein, K.; Dollfus, H.; Wieczorek, D.; Brunner, H.G.; Hurles, M.; Jackson, A.P.; Rauch, A.; Nürnberg, P.; Karagüzel, A. & Wollnik, B. (2011) CEP152 is a genome maintenance protein disrupted in Seckel syndrome. In: NATURE GENETICS, 43 (1) , p. 23 -26.-
item.accessRightsClosed Access-
crisitem.journal.issn1061-4036-
crisitem.journal.eissn1546-1718-
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