Emmert, Steffen

[["dc.bibliographiccitation.firstpage","486"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Experimental Dermatology"],["dc.bibliographiccitation.lastpage","489"],["dc.bibliographiccitation.volume","22"],["dc.contributor.author","Schaefer, Annika"],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Seebode, Christina"],["dc.contributor.author","Hofmann, Lars"],["dc.contributor.author","Schubert, Steffen"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Apel, Antje"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Tzvetkov, Mladen"],["dc.contributor.author","Weishaupt, Carsten"],["dc.contributor.author","Oji, Vinzenz"],["dc.contributor.author","Schoen, Michael Peter"],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T09:23:16Z"],["dc.date.available","2018-11-07T09:23:16Z"],["dc.date.issued","2013"],["dc.description.abstract","The xeroderma pigmentosum (XP) group D protein is involved in nucleotide excision repair (NER) as well as in basal transcription. Determined by the type of XPD mutation, six different clinical entities have been distinguished: XP, XP with neurological symptoms, trichothiodystrophy (TTD), XP/TTD complex, XP/Cockayne syndrome (CS) complex or the cerebro-oculo-facio-skeletal syndrome (COFS). We identified nine new XPD-deficient patients. Their fibroblasts showed reduced post-UV cell survival, reduced NER capacity, normal XPD mRNA expression and partly reduced XPD protein expression. Six patients exhibited a XP phenotype in accordance with established XP-causing mutations (c.2079G>A, p.R683Q; c.2078G>T, p.R683W; c.1833G>T, p.R601L; c.1878G>C, p.R616P; c.1878G>A, p.R616Q). One TTD patient was homozygous for the known TTD-causing mutation p.R722W (c.2195C>T). Two patients were compound heterozygous for a TTD-causing mutation (c.366G>A, p.R112H) and a novel p.D681H (c.2072G>C) amino acid exchange, but exhibited different TTD and XP/CS complex phenotypes, respectively. Interestingly, the XP/CS patient's cells exhibited a reduced but well detectable XPD protein expression compared with hardly detectable XPD expression of the TTD patient's cells. Same mutations with different clinical outcomes in NER-defective patients demonstrate the complexity of phenotype-genotype correlations, for example relating to additional genetic variations (parental consanguinity), different allelic expression due to SNPs or differences in the methylation status."],["dc.identifier.doi","10.1111/exd.12166"],["dc.identifier.isi","000320935600012"],["dc.identifier.pmid","23800062"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29540"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1600-0625"],["dc.relation.issn","0906-6705"],["dc.title","Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","JDDG Journal der Deutschen Dermatologischen Gesellschaft"],["dc.bibliographiccitation.volume","10"],["dc.contributor.author","Schaefer, Annika"],["dc.contributor.author","Schubert, Steffen"],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Apel, Antje"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Hofmann, Lars"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Mori, Toshio"],["dc.contributor.author","Kobayashi, Nobuhiko"],["dc.contributor.author","Schuerer, Anke"],["dc.contributor.author","Schoen, Michael Peter"],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T09:06:46Z"],["dc.date.available","2018-11-07T09:06:46Z"],["dc.date.issued","2012"],["dc.format.extent","678"],["dc.identifier.isi","000307881400026"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/25630"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.publisher.place","Hoboken"],["dc.relation.issn","1610-0379"],["dc.title","Characterization of five novel XPG mutations in three XP-G patients: Missense mutations impair repair and transcription"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","87"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Contact Dermatitis"],["dc.bibliographiccitation.lastpage","93"],["dc.bibliographiccitation.volume","82"],["dc.contributor.author","Schnuch, Axel"],["dc.contributor.author","Schubert, Steffen"],["dc.contributor.author","Lessmann, Holger"],["dc.contributor.author","Geier, Johannes"],["dc.contributor.author","Beiteke, Ulrike"],["dc.contributor.author","Dissemond, Joachim"],["dc.contributor.author","Buhl, Timo"],["dc.contributor.author","Schäkel, Knut"],["dc.contributor.author","Pföhler, Claudia"],["dc.contributor.author","Dietrich, Cecilia"],["dc.contributor.author","Worm, Margitta"],["dc.contributor.author","Bauer, Andrea"],["dc.contributor.author","Kreft, Burkhard"],["dc.contributor.author","Schliemann, Sibylle"],["dc.contributor.author","Brockow, Knut"],["dc.contributor.author","Becker, Detlef"],["dc.contributor.author","Forchhammer, Stephan"],["dc.contributor.author","Recke, Andreas"],["dc.contributor.author","Witte, Jana"],["dc.contributor.author","Pfützner, Wolfgang"],["dc.contributor.author","Coras‐Stepanek, Brigitte"],["dc.contributor.author","Skudlik, Christoph"],["dc.contributor.author","Wagner, Nicola"],["dc.contributor.author","Aberer, Werner"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Baron, Jens Malte"],["dc.contributor.author","Siedlecki, Katharina"],["dc.contributor.author","Baur, Vera"],["dc.contributor.author","Schmieder, Astrid"],["dc.contributor.author","Weisshaar, Elke"],["dc.contributor.author","Grunwald‐Delitz, Heidrun"],["dc.contributor.author","Trautmann, Axel"],["dc.contributor.author","Hofmeier, Kathrin Scherer"],["dc.contributor.author","Szliska, Christiane"],["dc.contributor.author","Weiß, Johannes"],["dc.contributor.author","Effendy, Isaak"],["dc.contributor.author","Jünger, Michael"],["dc.contributor.author","Brehler, Randolf"],["dc.contributor.author","Rueff, Franziska"],["dc.contributor.author","Werfel, Thomas"],["dc.contributor.author","Dickel, Heinrich"],["dc.contributor.author","Rieker‐Schwienbacher, Juliane"],["dc.contributor.author","Vieluf, Dieter"],["dc.contributor.author","Stadler, Rudolf"],["dc.contributor.author","Simon, Dagmar"],["dc.contributor.author","Fartasch, Manigé"],["dc.contributor.author","Micaletto, Sara"],["dc.contributor.author","Treudler, Regina"],["dc.contributor.author","Nestoris, Stefan"],["dc.contributor.author","Mechtel, Dirk"],["dc.contributor.author","Schröder‐Kraft, Claudia"],["dc.contributor.author","Löffler, Harald"],["dc.contributor.author","Gina, Michal"],["dc.contributor.author","Koch, André"],["dc.contributor.author","Raap, Ulrike"],["dc.contributor.author","Grabbe, Jürgen"],["dc.contributor.author","Spring, Philipp"],["dc.contributor.author","Prager, Welf"],["dc.contributor.author","Wilfinger, Daniel"],["dc.date.accessioned","2020-12-10T18:27:13Z"],["dc.date.available","2020-12-10T18:27:13Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1111/cod.v82.2"],["dc.identifier.eissn","1600-0536"],["dc.identifier.issn","0105-1873"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/76277"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","The methylisothiazolinone epidemic goes along with changing patients' characteristics – After cosmetics, industrial applications are the focus"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1841"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Journal of Investigative Dermatology"],["dc.bibliographiccitation.lastpage","1849"],["dc.bibliographiccitation.volume","133"],["dc.contributor.author","Schaefer, Annika"],["dc.contributor.author","Schubert, Steffen"],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Seebode, Christina"],["dc.contributor.author","Apel, Antje"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Hofmann, Lars"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Mori, Toshio"],["dc.contributor.author","Kobayashi, Nobuhiko"],["dc.contributor.author","Schuerer, Anke"],["dc.contributor.author","Schoen, Michael Peter"],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T09:23:26Z"],["dc.date.available","2018-11-07T09:23:26Z"],["dc.date.issued","2013"],["dc.description.abstract","Only 16 XPG-defective patients with 20 different mutations have been described. The current hypothesis is that missense mutations impair repair (xeroderma pigmentosum (XP) symptoms), whereas truncating mutations impair both repair and transcription (XP and Cockayne syndrome (CS) symptoms). We identified three cell lines of XPG-defective patients (XP40GO, XP72MA, and XP165MA). Patients' fibroblasts showed a reduced post-UVC cell survival. The reduced repair capability, assessed by host cell reactivation, could be complemented by XPG cDNA. XPG mRNA expression of XP165MA, XP72MA, and XP40GO was 83%, 97%, and 82.5%, respectively, compared with normal fibroblasts. XP165MA was homozygous for a p.G805R mutation; XP72MA and XP40GO were both compound heterozygous (p.W814S and p.E727X, and p.L778P and p.Q150X, respectively). Allele-specific complementation analysis of these five mutations revealed that p.L778P and p.W814S retained considerable residual repair activity. In line with the severe XP/CS phenotypes of XP72MA and XP165MA, even the missense mutations failed to interact with the transcription factor IIH subunits XPD and to some extent cdk7 in coimmunoprecipitation assays. Immunofluorescence techniques revealed that the mutations destabilized early recruitment of XP proteins to localized photodamage and delayed their redistribution in vivo. Thus, we identified three XPG missense mutations in the I-region of XPG that impaired repair and transcription and resulted in severe XP/CS."],["dc.identifier.doi","10.1038/jid.2013.54"],["dc.identifier.isi","000320428400023"],["dc.identifier.pmid","23370536"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29576"],["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","Characterization of Three XPG-Defective Patients Identifies Three Missense Mutations that Impair Repair and Transcription"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e1006248"],["dc.bibliographiccitation.issue","8"],["dc.bibliographiccitation.journal","PLOS Genetics"],["dc.bibliographiccitation.volume","12"],["dc.contributor.author","Rump, Andreas"],["dc.contributor.author","Benet-Pages, Anna"],["dc.contributor.author","Schubert, Steffen"],["dc.contributor.author","Kuhlmann, Jan Dominik"],["dc.contributor.author","Janavičius, Ramūnas"],["dc.contributor.author","Macháčková, Eva"],["dc.contributor.author","Foretová, Lenka"],["dc.contributor.author","Kleibl, Zdenek"],["dc.contributor.author","Lhota, Filip"],["dc.contributor.author","Zemankova, Petra"],["dc.contributor.author","Betcheva-Krajcir, Elitza"],["dc.contributor.author","Mackenroth, Luisa"],["dc.contributor.author","Hackmann, Karl"],["dc.contributor.author","Lehmann, Janin"],["dc.contributor.author","Nissen, Anke"],["dc.contributor.author","DiDonato, Nataliya"],["dc.contributor.author","Opitz, Romy"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Kast, Karin"],["dc.contributor.author","Wimberger, Pauline"],["dc.contributor.author","Holinski-Feder, Elke"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Schröck, Evelin"],["dc.contributor.author","Klink, Barbara"],["dc.date.accessioned","2019-07-09T11:42:49Z"],["dc.date.available","2019-07-09T11:42:49Z"],["dc.date.issued","2016"],["dc.description.abstract","The increasing application of gene panels for familial cancer susceptibility disorders will probably lead to an increased proposal of susceptibility gene candidates. Using ERCC2 DNA repair gene as an example, we show that proof of a possible role in cancer susceptibility requires a detailed dissection and characterization of the underlying mutations for genes with diverse cellular functions (in this case mainly DNA repair and basic cellular transcription). In case of ERCC2, panel sequencing of 1345 index cases from 587 German, 405 Lithuanian and 353 Czech families with breast and ovarian cancer (BC/OC) predisposition revealed 25 mutations (3 frameshift, 2 splice-affecting, 20 missense), all absent or very rare in the ExAC database. While 16 mutations were unique, 9 mutations showed up repeatedly with population-specific appearance. Ten out of eleven mutations that were tested exemplarily in cell-based functional assays exert diminished excision repair efficiency and/or decreased transcriptional activation capability. In order to provide evidence for BC/OC predisposition, we performed familial segregation analyses and screened ethnically matching controls. However, unlike the recently published RECQL example, none of our recurrent ERCC2 mutations showed convincing co-segregation with BC/OC or significant overrepresentation in the BC/OC cohort. Interestingly, we detected that some deleterious founder mutations had an unexpectedly high frequency of > 1% in the corresponding populations, suggesting that either homozygous carriers are not clinically recognized or homozygosity for these mutations is embryonically lethal. In conclusion, we provide a useful resource on the mutational landscape of ERCC2 mutations in hereditary BC/OC patients and, as our key finding, we demonstrate the complexity of correct interpretation for the discovery of “bonafide” breast cancer susceptibility genes."],["dc.identifier.doi","10.1371/journal.pgen.1006248"],["dc.identifier.pmid","27504877"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/13771"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/58754"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.relation.issn","1553-7404"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","European Journal of Human Genetics"],["dc.bibliographiccitation.volume","22"],["dc.contributor.author","Schubert, Steffen"],["dc.contributor.author","Lehmann, Janin"],["dc.contributor.author","Kalfon, Limor"],["dc.contributor.author","Slor, Hanoch"],["dc.contributor.author","Falik-Zaccai, Tzipora C."],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T09:38:17Z"],["dc.date.available","2018-11-07T09:38:17Z"],["dc.date.issued","2014"],["dc.identifier.doi","10.1038/ejhg.2013.233"],["dc.identifier.isi","000338342700001"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/33037"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1476-5438"],["dc.relation.issn","1018-4813"],["dc.title","Clinical utility gene card for: Xeroderma pigmentosum"],["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","222"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Contact Dermatitis"],["dc.bibliographiccitation.lastpage","227"],["dc.bibliographiccitation.volume","80"],["dc.contributor.author","Bauer, Andrea"],["dc.contributor.author","Geier, Johannes"],["dc.contributor.author","Schreiber, Sophie"],["dc.contributor.author","Schubert, Steffen"],["dc.contributor.author","Beiteke, Ulrike"],["dc.contributor.author","Dissemond, Joachim"],["dc.contributor.author","Buhl, Timo"],["dc.contributor.author","Schäkel, Knut"],["dc.contributor.author","Pföhler, Claudia"],["dc.contributor.author","Brasch, Jochen"],["dc.contributor.author","Worm, Margitta"],["dc.contributor.author","Kreft, Burkhard"],["dc.contributor.author","Schliemann, Sibylle"],["dc.contributor.author","Darsow, Ulf"],["dc.contributor.author","Becker, Detlef"],["dc.contributor.author","Forchhammer, Stephan"],["dc.contributor.author","Hartmann, Karin"],["dc.contributor.author","Witte, Jana"],["dc.contributor.author","Pfützner, Wolfgang"],["dc.contributor.author","Coras‐Stepanek, Brigitte"],["dc.contributor.author","Skudlik, Christoph"],["dc.contributor.author","Wagner, Nicola"],["dc.contributor.author","Aberer, Werner"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Baron, Jens Malte"],["dc.contributor.author","Siedlecki, Katharina"],["dc.contributor.author","Baur, Vera"],["dc.contributor.author","Schmieder, Astrid"],["dc.contributor.author","Weisshaar, Elke"],["dc.contributor.author","Grunwald‐Delitz, Heidrun"],["dc.contributor.author","Trautmann, Axel"],["dc.contributor.author","Bircher, Andreas"],["dc.contributor.author","Szliska, Christiane"],["dc.contributor.author","Weiß, Johannes"],["dc.contributor.author","Effendy, Isaak"],["dc.contributor.author","Jünger, Michael"],["dc.contributor.author","Brehler, Randolf"],["dc.contributor.author","Molin, Sonja"],["dc.contributor.author","Werfel, Thomas"],["dc.contributor.author","Dickel, Heinrich"],["dc.contributor.author","Rieker‐Schwienbacher, Juliane"],["dc.contributor.author","Vieluf, Dieter"],["dc.contributor.author","Stadler, Rudolf"],["dc.contributor.author","Simon, Dagmar"],["dc.contributor.author","Fartasch, Manigé"],["dc.contributor.author","Navarini, Alexander"],["dc.contributor.author","Treudler, Regina"],["dc.contributor.author","Nestoris, Stefan"],["dc.contributor.author","Mechtel, Dirk"],["dc.contributor.author","Schröder‐Kraft, Claudia"],["dc.contributor.author","Löffler, Harald"],["dc.contributor.author","Fischer, Matthias"],["dc.contributor.author","Koch, André"],["dc.contributor.author","Raap, Ulrike"],["dc.contributor.author","Grabbe, Jürgen"],["dc.contributor.author","Lucca, Julie"],["dc.contributor.author","Zutt, Markus"],["dc.contributor.author","Spring, Philipp"],["dc.contributor.author","Prager, Welf"],["dc.date.accessioned","2020-12-10T18:27:12Z"],["dc.date.available","2020-12-10T18:27:12Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1111/cod.13169"],["dc.identifier.eissn","1600-0536"],["dc.identifier.issn","0105-1873"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/76272"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Contact sensitization to plants of the Compositae family: Data of the Information Network of Departments of Dermatology (IVDK) from 2007 to 2016"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2081"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Cellular and Molecular Life Sciences"],["dc.bibliographiccitation.lastpage","2094"],["dc.bibliographiccitation.volume","74"],["dc.contributor.author","Lehmann, Janin"],["dc.contributor.author","Seebode, Christina"],["dc.contributor.author","Smolorz, Sabine"],["dc.contributor.author","Schubert, Steffen"],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T10:23:28Z"],["dc.date.available","2018-11-07T10:23:28Z"],["dc.date.issued","2017"],["dc.description.abstract","The XPF/ERCC1 heterodimeric complex is essentially involved in nucleotide excision repair (NER), interstrand crosslink (ICL), and double-strand break repair. Defects in XPF lead to severe diseases like xeroderma pigmentosum (XP). Up until now, XP-F patient cells have been utilized for functional analyses. Due to the multiple roles of the XPF/ERCC1 complex, these patient cells retain at least one full-length allele and residual repair capabilities. Despite the essential function of the XPF/ERCC1 complex for the human organism, we successfully generated a viable immortalised human XPF knockout cell line with complete loss of XPF using the CRISPR/Cas9 technique in fetal lung fibroblasts (MRC5Vi cells). These cells showed a markedly increased sensitivity to UVC, cisplatin, and psoralen activated by UVA as well as reduced repair capabilities for NER and ICL repair as assessed by reporter gene assays. Using the newly generated knockout cells, we could show that human XPF is markedly involved in homologous recombination repair (HRR) but dispensable for non-homologous end-joining (NHEJ). Notably, ERCC1 was not detectable in the nucleus of the XPF knockout cells indicating the necessity of a functional XPF/ERCC1 heterodimer to allow ERCC1 to enter the nucleus. Overexpression of wild-type XPF could reverse this effect as well as the repair deficiencies."],["dc.identifier.doi","10.1007/s00018-017-2455-7"],["dc.identifier.isi","000400856800010"],["dc.identifier.pmid","28130555"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/42461"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.publisher.place","Basel"],["dc.relation.issn","1420-9071"],["dc.relation.issn","1420-682X"],["dc.title","XPF knockout via CRISPR/Cas9 reveals that ERCC1 is retained in the cytoplasm without its heterodimer partner XPF"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","276"],["dc.bibliographiccitation.issue","5-6"],["dc.bibliographiccitation.journal","Photodermatology Photoimmunology & Photomedicine"],["dc.bibliographiccitation.lastpage","283"],["dc.bibliographiccitation.volume","32"],["dc.contributor.author","Schubert, Steffen"],["dc.contributor.author","Rieper, Petra"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Seebode, Christina"],["dc.contributor.author","Lehmann, Janin"],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T10:08:56Z"],["dc.date.available","2018-11-07T10:08:56Z"],["dc.date.issued","2016"],["dc.description.abstract","BackgroundThe nucleotide excision repair (NER) pathway, defective in xeroderma pigmentosum (XP) patients, removes DNA photolesions in order to prevent carcinogenesis. Complementation group C (XP-C) is the most frequent group of XP patients worldwide. MethodsWe analyzed seven XP-C patients clinically and molecular-genetically applying: post-UV cell survival (MTT-assay), quantitative Real-time PCR, sequencing on chromosomal as well as cDNA level, and in silico interpretation of sequencing data. ResultsAll cases displayed diminished post-UV cell survival as well as reduced XPCmRNA levels. Five homozygous and two heterozygous disease causing mutations were identified. A large chromosomal deletion of similar to 5.8 kb identified in XP174MA leads to an unique in frame deletion of XPC exon 2 and exon 3. In silico analysis revealed the deletion of 102 amino acids in the N-terminal part of XPC while leaving the C-terminal domain intact. The novel c.361delA mutation in XP168MA leads to a frameshift in exon 3 resulting in a premature stop codon 27 codons downstream of the deleted adenine. ConclusionOur analysis confirms that XP-C patients without increased sun sensitivity develop non-melanoma skin cancers earlier than sun-sensitive XP-C patients. Reduced cellular mRNA levels are characteristic for XP complementation group C and qRT-PCR represents a rapid diagnostic tool."],["dc.identifier.doi","10.1111/phpp.12251"],["dc.identifier.isi","000388315900006"],["dc.identifier.pmid","27387384"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/39567"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1600-0781"],["dc.relation.issn","0905-4383"],["dc.title","A unique chromosomal in-frame deletion identified among seven XP-C patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","353"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Archives of Dermatological Research"],["dc.bibliographiccitation.lastpage","361"],["dc.bibliographiccitation.volume","304"],["dc.contributor.author","Schaefer, Annika"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Kruppa, Jochen"],["dc.contributor.author","Schubert, Steffen"],["dc.contributor.author","Tzvetkov, Mladen"],["dc.contributor.author","Moessner, Rotraut"],["dc.contributor.author","Reich, Kristian"],["dc.contributor.author","Berking, Carola"],["dc.contributor.author","Volkenandt, Matthias"],["dc.contributor.author","Pfoehler, Claudia"],["dc.contributor.author","Schoen, Michael Peter"],["dc.contributor.author","Vogt, Thomas"],["dc.contributor.author","Koenig, Inke R."],["dc.contributor.author","Reichrath, Joerg"],["dc.date.accessioned","2018-11-07T09:08:44Z"],["dc.date.available","2018-11-07T09:08:44Z"],["dc.date.issued","2012"],["dc.description.abstract","Melanoma is one of the most aggressive human cancers. The vitamin D system contributes to the pathogenesis and prognosis of malignancies including cutaneous melanoma. An expression of the vitamin D receptor (VDR) and an anti-proliferative effect of vitamin D in melanocytes and melanoma cells have been shown in vitro. Studies examining associations of polymorphisms in genes coding for vitamin D metabolism-related proteins (1 alpha-hydroxylase [CYP27B1], 1,25(OH)(2)D-24hydroxylase [CYP24A1], vitamin D-binding protein [VDBP]) and cancer risk are scarce, especially with respect to melanoma. Mainly VDR polymorphisms regarding melanoma risk and prognosis were examined although other vitamin D metabolism-related genes may also be crucial. In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. Except VDR rs731236 and VDR rs2107301, the other six polymorphisms have not been analyzed regarding melanoma before. To further improve the prevention as well as the treatment of melanoma, it is important to identify further genetic markers for melanoma risk as well as prognosis in addition to the crude phenotypic, demographic, and environmental markers used in the clinic today. A panel of genetic risk markers could help to better identify individuals at risk for melanoma development or worse prognosis. We, however, found that none of the polymorphisms tested was associated with melanoma risk as well as prognosis in logistic and linear regression models in our study population."],["dc.identifier.doi","10.1007/s00403-012-1243-3"],["dc.identifier.isi","000305680200003"],["dc.identifier.pmid","22576141"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/8093"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/26096"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0340-3696"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","No association of vitamin D metabolism-related polymorphisms and melanoma risk as well as melanoma prognosis: a case-control study"],["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"]]