Emmert, Steffen

[["dc.bibliographiccitation.firstpage","1085"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Carcinogenesis"],["dc.bibliographiccitation.lastpage","1090"],["dc.bibliographiccitation.volume","26"],["dc.contributor.author","Blankenburg, S."],["dc.contributor.author","Konig, I. R."],["dc.contributor.author","Moessner, R."],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Thoms, Kai Martin"],["dc.contributor.author","Krueger, Ulrich"],["dc.contributor.author","Khan, Sajjad"],["dc.contributor.author","Westphal, G."],["dc.contributor.author","Berking, Carola"],["dc.contributor.author","Volkenandt, Matthias"],["dc.contributor.author","Reich, Kristian"],["dc.contributor.author","Neumann, C."],["dc.contributor.author","Ziegler, Andreas"],["dc.contributor.author","Kraemer, Kenneth H."],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T10:29:15Z"],["dc.date.available","2018-11-07T10:29:15Z"],["dc.date.issued","2005"],["dc.description.abstract","Individuals with the rare DNA repair deficiency syndrome xeroderma pigmentosum (XP) are sensitive to the sun and exhibit a 1000-fold increased risk for developing skin cancers, including cutaneous melanoma. Inherited polymorphisms of XP genes may contribute to subtle variations in DNA repair capacity and genetic susceptibility to melanoma. We investigated the role of three polymorphic alleles of the DNA repair gene XPC in a hospital-based case-control study of 294 Caucasian patients from Germany who had cutaneous melanoma and 375 healthy cancer-free sex-matched Caucasian control subjects from the same area. We confirmed that the XPC intron 9 PAT+, intron 11 -6A, and the exon 15 2920C polymorphisms are in a linkage disequilibrium. Only 1.6% of the 669 donors genotyped were discordant for these three polymorphisms. The allele frequencies (cases: controls) were for intron 9 PAT+ 41.7%:36.9%, for intron 11 -6A 41.8%:37.0% and for exon 15 2920C 41.3%:37.3%. Using multivariate logistic regression analyses to control for age, skin type and number of nevi, the three polymorphisms were significantly associated with increased risks of melanoma: OR 1.87 (95% CI: 1.10-3.19; P = 0.022), OR 1.83 (95% CI: 1.07-3.11; P = 0.026), and OR 1.82 (95% CI: 1.07-3.08; P = 0.026), respectively. Exploratory multivariate analyses of distinct subgroups revealed that these polymorphisms were associated with increased risks for the development of multiple primary melanomas (n = 28). The results of our case-control study support the hypothesis that the intron 9 PAT+, intron 11 -6A and exon 15 2920C haplotype may contribute to the risk of developing cutaneous melanoma by increasing the rate of an alternatively spliced XPC mRNA isoform that skips exon 12 and leads to reduced DNA repair. Our results should be validated in independent samples in order to guard against false positive findings."],["dc.description.sponsorship","Intramural NIH HHS [Z01 BC004517-31]"],["dc.identifier.doi","10.1093/carcin/bgi055"],["dc.identifier.isi","000229700100008"],["dc.identifier.pmid","15731165"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/43601"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Oxford Univ Press"],["dc.relation.issn","0143-3334"],["dc.title","Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2055"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","Journal of Investigative Dermatology"],["dc.bibliographiccitation.lastpage","2068"],["dc.bibliographiccitation.volume","128"],["dc.contributor.author","Inui, Hiroki"],["dc.contributor.author","Oh, Kyu-Seon"],["dc.contributor.author","Nadem, Carine"],["dc.contributor.author","Ueda, Takahiro"],["dc.contributor.author","Khan, Sikandar C."],["dc.contributor.author","Metin, Ahmet"],["dc.contributor.author","Gozukara, Engm"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Slor, Hanoch"],["dc.contributor.author","Busch, David B."],["dc.contributor.author","Baker, Carl C."],["dc.contributor.author","DiGiovanna, John J."],["dc.contributor.author","Tamura, Deborah"],["dc.contributor.author","Seitz, Cornelia S."],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Wu, W."],["dc.contributor.author","Chung, Kee Yang"],["dc.contributor.author","Chung, Hye Jin"],["dc.contributor.author","Azizi, Esther"],["dc.contributor.author","Woodgate, Roger"],["dc.contributor.author","Schneider, Thomas D."],["dc.contributor.author","Kraemer, Kenneth H."],["dc.date.accessioned","2018-11-07T11:12:33Z"],["dc.date.available","2018-11-07T11:12:33Z"],["dc.date.issued","2008"],["dc.description.abstract","Xeroderma pigmentosum-variant (XP-V) patients have sun sensitivity and increased skin cancer risk. Their cells have normal nucleotide excision repair, but have defects in the POLH gene encoding an error-prone polymerase, DNA polymerase eta (pol eta). To survey the molecular basis of XP-V worldwide, we measured pol eta protein in skin fibroblasts from putative XP-V patients (aged 8-66 years) from 10 families in North America, Turkey, Israel, Germany, and Korea. Pol eta was undetectable in cells from patients in eight families, whereas two showed faint bands. DNA sequencing identified 10 different POLH mutations. There were two splicing, one nonsense, five frameshift (3 deletion and 2 insertion), and two missense mutations. Nine of these mutations involved the catalytic domain. Although affected siblings had similar clinical features, the relation between the clinical features and the mutations was not clear. POLH mRNA levels were normal or reduced by 50% in three cell strains with undetectable levels of pol eta protein, indicating that nonsense-mediated message decay was limited. We found a wide spectrum of mutations in the POLH gene among XP-V patients in different countries, suggesting that many of these mutations arose independently."],["dc.description.sponsorship","Intramural NIH HHS [Z01 BC008396-18, Z01 HD001500-25]"],["dc.identifier.doi","10.1038/jid.2008.48"],["dc.identifier.isi","258031700027"],["dc.identifier.pmid","18368133"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/53695"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","0022-202X"],["dc.title","Xeroderma pigmentosum-variant patients from America, Europe, and Asia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1092"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Human Mutation"],["dc.bibliographiccitation.lastpage","1103"],["dc.bibliographiccitation.volume","27"],["dc.contributor.author","Oh, Kyu-Seon"],["dc.contributor.author","Khan, Sikandar G."],["dc.contributor.author","Jaspers, N.G.J."],["dc.contributor.author","Raams, Anja"],["dc.contributor.author","Ueda, Takahiro"],["dc.contributor.author","Lehmann, Alan"],["dc.contributor.author","Friedmann, Peter S."],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Gratchev, Alexi"],["dc.contributor.author","Lachlan, Katherine"],["dc.contributor.author","Kraemer, Kenneth H."],["dc.date.accessioned","2021-12-08T12:30:35Z"],["dc.date.available","2021-12-08T12:30:35Z"],["dc.date.issued","2006"],["dc.identifier.doi","10.1002/humu.20392"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/96484"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-476"],["dc.relation.eissn","1098-1004"],["dc.relation.issn","1059-7794"],["dc.rights.uri","http://doi.wiley.com/10.1002/tdm_license_1.1"],["dc.title","Phenotypic heterogeneity in the XPB DNA helicase gene ( ERCC3 ): xeroderma pigmentosum without and with Cockayne syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Experimental Dermatology"],["dc.bibliographiccitation.volume","15"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Ueda, Takahiro"],["dc.contributor.author","Zumsteg, Urs"],["dc.contributor.author","Khan, Sajjad"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Zachmann, Karolin"],["dc.contributor.author","Leibeling, Diana"],["dc.contributor.author","Bircher, A."],["dc.contributor.author","Kraemer, Kenneth H."],["dc.date.accessioned","2018-11-07T10:12:14Z"],["dc.date.available","2018-11-07T10:12:14Z"],["dc.date.issued","2006"],["dc.format.extent","230"],["dc.identifier.isi","000235370600146"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/40191"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Blackwell Publishing"],["dc.publisher.place","Oxford"],["dc.relation.conference","33rd Annual Meeting of the Arbeitsgemeinschaft-Dermatologische-Forschung (ADF)"],["dc.relation.eventlocation","Aachen, GERMANY"],["dc.relation.issn","0906-6705"],["dc.title","The common R683W rather than a new fs670 -> 693ter mutation in the XPD gene determines the xeroderma pigmentosum phenotype in a 15-year-old boy"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Journal of Investigative Dermatology"],["dc.bibliographiccitation.volume","123"],["dc.contributor.author","Blankenburg, S."],["dc.contributor.author","Konig, I. R."],["dc.contributor.author","Moessner, R."],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Thoms, Kai Martin"],["dc.contributor.author","Krueger, Ulrich"],["dc.contributor.author","Khan, G."],["dc.contributor.author","Westphal, G."],["dc.contributor.author","Volkenandt, Matthias"],["dc.contributor.author","Reich, Kristian"],["dc.contributor.author","Ziegler, Andreas"],["dc.contributor.author","Kraemer, Kenneth H."],["dc.contributor.author","Neumann, C."],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T10:46:48Z"],["dc.date.available","2018-11-07T10:46:48Z"],["dc.date.issued","2004"],["dc.identifier.isi","000222483400325"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/47829"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Blackwell Publishing Inc"],["dc.publisher.place","Malden"],["dc.relation.conference","34th Annual Meeting of the European-Society-for-Dermatological-Research"],["dc.relation.eventlocation","Vienna, AUSTRIA"],["dc.relation.issn","0022-202X"],["dc.title","Assessment of 4 xeroderma pigmentosum group C and G gene polymorphisms and risk of cutaneous malignant melanoma: A case-control study"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","729"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Photochemistry and Photobiology"],["dc.bibliographiccitation.lastpage","733"],["dc.bibliographiccitation.volume","87"],["dc.contributor.author","Oh, Kyu-Seon"],["dc.contributor.author","Imoto, Kyoko"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Tamura, Deborah"],["dc.contributor.author","DiGiovanna, John J."],["dc.contributor.author","Kraemer, Kenneth H."],["dc.date.accessioned","2018-11-07T08:56:40Z"],["dc.date.available","2018-11-07T08:56:40Z"],["dc.date.issued","2011"],["dc.description.abstract","The xeroderma pigmentosum (XP-E) DNA damage binding protein (DDB2) is involved in early recognition of global genome DNA damage during DNA nucleotide excision repair (NER). We found that skin fibroblasts from four newly reported XP-E patients with numerous skin cancers and DDB2 mutations had slow repair of 6-4 photoproducts (6-4PP) and markedly reduced repair of cyclobutane pyrimidine dimers (CPD). NER proteins (XPC, XPB, XPG, XPA and XPF) colocalized to CPD and 6-4PP positive regions immediately (<0.1 h) after localized UV irradiation in cells from the XP-E patients and normal controls. While these proteins persist in normal cells, surprisingly, within 0.5 h these repair proteins were no longer detectable at the sites of DNA damage in XP-E cells. Our results indicate that DDB2 is not required for the rapid recruitment of NER proteins to sites of UV photoproducts or for partial repair of 6-4PP but is essential for normal persistence of these proteins for CPD photoproduct removal."],["dc.identifier.doi","10.1111/j.1751-1097.2011.00909.x"],["dc.identifier.isi","000289774200031"],["dc.identifier.pmid","21388382"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/23206"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","0031-8655"],["dc.title","Nucleotide Excision Repair Proteins Rapidly Accumulate but Fail to Persist in Human XP-E (DDB2 Mutant) Cells"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Journal of Investigative Dermatology"],["dc.bibliographiccitation.volume","126"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Ueda, Takahiro"],["dc.contributor.author","Zumsteg, Urs"],["dc.contributor.author","Khan, Sajjad"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Zachmann, Karolin"],["dc.contributor.author","Leibeling, Diana"],["dc.contributor.author","Bircher, A."],["dc.contributor.author","Kraemer, Kenneth H."],["dc.date.accessioned","2018-11-07T10:02:37Z"],["dc.date.available","2018-11-07T10:02:37Z"],["dc.date.issued","2006"],["dc.format.extent","73"],["dc.identifier.isi","000242891500434"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/38268"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.publisher.place","New york"],["dc.relation.conference","67th Annual Meeting of the Society-for-Investigative-Dermatology"],["dc.relation.eventlocation","Philadelphia, PA"],["dc.relation.issn","0022-202X"],["dc.title","The common C2125T rather than a new del2084G mutation in the XPD gene determines the xeroderma pigmentosum phenotype in a 15y old boy"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2542"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Journal of Investigative Dermatology"],["dc.bibliographiccitation.lastpage","2544"],["dc.bibliographiccitation.volume","126"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Wetzig, Tino"],["dc.contributor.author","Imoto, Kyoko"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Zachmann, Karolin"],["dc.contributor.author","Simon, J. C."],["dc.contributor.author","Kraemer, Kenneth H."],["dc.contributor.author","Khan, Sikandar G."],["dc.contributor.author","Oh, Kyu-Seon"],["dc.date.accessioned","2018-11-07T09:29:08Z"],["dc.date.available","2018-11-07T09:29:08Z"],["dc.date.issued","2006"],["dc.description.sponsorship","Intramural NIH HHS [Z01 BC004517-31]"],["dc.format.extent","35"],["dc.identifier.doi","10.1038/sj.jid.5700452"],["dc.identifier.isi","000242891900193"],["dc.identifier.pmid","16794584"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/30947"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.conference","36th Annual Meeting of the European-Society-of-Dermatology-Research (ESDR)"],["dc.relation.eventlocation","Paris, FRANCE"],["dc.relation.issn","0022-202X"],["dc.title","A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1713"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Journal of Investigative Dermatology"],["dc.bibliographiccitation.lastpage","1717"],["dc.bibliographiccitation.volume","133"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Kraemer, Kenneth H."],["dc.date.accessioned","2018-11-07T09:23:25Z"],["dc.date.available","2018-11-07T09:23:25Z"],["dc.date.issued","2013"],["dc.description.abstract","Nucleotide excision repair (NER) removes UV-induced DNA damage and other bulky DNA lesions, thereby maintaining genomic integrity. Dr Qingyi Wei's group demonstrated over the last decade that NER fidelity and single-nucleotide polymorphisms (SNPs) in NER genes constitute melanoma risk biomarkers. In this issue, Li et al. provide evidence that SNPs in NER genes may also predict melanoma survival."],["dc.description.sponsorship","Intramural NIH HHS [Z01 BC004517-31]"],["dc.identifier.doi","10.1038/jid.2013.72"],["dc.identifier.isi","000320428400006"],["dc.identifier.pmid","23760049"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29575"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1523-1747"],["dc.relation.issn","0022-202X"],["dc.title","Do Not Underestimate Nucleotide Excision Repair: It Predicts Not Only Melanoma Risk but Also Survival Outcome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1443"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Nucleic Acids Research"],["dc.bibliographiccitation.lastpage","1452"],["dc.bibliographiccitation.volume","29"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Schneider, Thomas D."],["dc.contributor.author","Kraemer, Kenneth H."],["dc.contributor.author","Khan, Sikandar G."],["dc.date.accessioned","2018-11-07T09:14:51Z"],["dc.date.available","2018-11-07T09:14:51Z"],["dc.date.issued","2001"],["dc.description.abstract","Defects in the XPG DNA repair endonuclease gene can result in the cancer-prone disorders xeroderma pigmentosum (XP) or the XP-Cockayne syndrome complex. While the XPG cDNA sequence was known, determination of the genomic sequence was required to understand its different functions. In cells from normal donors, we found that the genomic sequence of the human XPG gene spans 30 kb, contains 15 exons that range from 61 to 1074 bp and 14 introns that range from 250 to 5763 bp, Analysis of the splice donor and acceptor sites using an information theory-based approach revealed three splice sites with low information content, which are components of the minor (U12) spliceosome, We identified six alternatively spliced XPG mRNA isoforms in cells from normal donors and from XPG patients: partial deletion of exon 8, partial retention of intron 8, two with alternative exons tin introns 1 and 6) and two that retained complete introns (introns 3 and 9), The amount of alternatively spliced XPG mRNA isoforms varied in different tissues. Most alternative splice donor and acceptor sites had a relatively high information content, but one has the U12 spliceosome sequence. A single nucleotide polymorphism has allele frequencies of 0.74 for 3507G and 0.26 for 3507C in 91 donors. The human XPG gene contains multiple splice sites with low information content in association with multiple alternatively spliced isoforms of XPG mRNA."],["dc.description.sponsorship","Intramural NIH HHS [Z01 BC004517-31]"],["dc.format.mimetype","application/pdf"],["dc.identifier.doi","10.1093/nar/29.7.1443"],["dc.identifier.fs","10209"],["dc.identifier.isi","000167970300006"],["dc.identifier.pmid","11266544"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?goescholar/4101"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/27524"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Oxford Univ Press"],["dc.relation.issn","0305-1048"],["dc.relation.issn","1362-4962"],["dc.rights","Goescholar"],["dc.rights.access","openAccess"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.subject","nucleic acids"],["dc.subject.ddc","610"],["dc.title","The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]