Ohlenbusch, Andreas

[["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.journal","JDDG Journal der Deutschen Dermatologischen Gesellschaft"],["dc.bibliographiccitation.volume","12"],["dc.contributor.author","Lehmann, J."],["dc.contributor.author","Schubert, S."],["dc.contributor.author","Schaefer, A."],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Haenssle, Holger Andreas"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T09:36:16Z"],["dc.date.available","2018-11-07T09:36:16Z"],["dc.date.issued","2014"],["dc.format.extent","40"],["dc.identifier.isi","000340532500112"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/32577"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.publisher.place","Hoboken"],["dc.relation.issn","1610-0387"],["dc.relation.issn","1610-0379"],["dc.title","A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["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.issue","3"],["dc.bibliographiccitation.journal","Experimental Dermatology"],["dc.bibliographiccitation.volume","23"],["dc.contributor.author","Lehmann, J."],["dc.contributor.author","Schubert, S."],["dc.contributor.author","Schaefer, A."],["dc.contributor.author","Apel, Antje"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Schiller, S."],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T09:43:01Z"],["dc.date.available","2018-11-07T09:43:01Z"],["dc.date.issued","2014"],["dc.format.extent","E22"],["dc.identifier.isi","000332335500148"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/34087"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.publisher.place","Hoboken"],["dc.relation.conference","41st Annual Meeting of the Arbeitsgemeinschaft-Dermatologische-Forschung (ADF)"],["dc.relation.eventlocation","Cologne, GERMANY"],["dc.relation.issn","1600-0625"],["dc.relation.issn","0906-6705"],["dc.title","An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Anticancer Research"],["dc.bibliographiccitation.volume","35"],["dc.contributor.author","Lehmann, J."],["dc.contributor.author","Schubert, S."],["dc.contributor.author","Schaefer, A."],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T09:56:39Z"],["dc.date.available","2018-11-07T09:56:39Z"],["dc.date.issued","2015"],["dc.format.extent","3610"],["dc.identifier.isi","000355273800086"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37000"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Int Inst Anticancer Research"],["dc.publisher.place","Athens"],["dc.relation.issn","1791-7530"],["dc.relation.issn","0250-7005"],["dc.title","A NOVEL MUTATION IN THE XPA GENE RESULTS IN TWO TRUNCATED PROTEIN VARIANTS AND LEADS TO A SEVERE XP/NEUROLOGICAL SYMPTOMS PHENOTYPE"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Experimental Dermatology"],["dc.bibliographiccitation.volume","21"],["dc.contributor.author","Schaefer, A."],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Schubert, S."],["dc.contributor.author","Schoen, Michael Peter"],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T09:12:41Z"],["dc.date.available","2018-11-07T09:12:41Z"],["dc.date.issued","2012"],["dc.format.extent","e22"],["dc.identifier.isi","000300931700130"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/26999"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.publisher.place","Malden"],["dc.relation.conference","39th Annual Meeting of the Arbeitsgemeinschaft-Dermatologische-Forschung (ADF)"],["dc.relation.eventlocation","Marburg, GERMANY"],["dc.relation.issn","0906-6705"],["dc.title","Characterization of novel XP-G patients: prognostic assessment on the basis of mutational analysis"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","903"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","British Journal of Dermatology"],["dc.bibliographiccitation.lastpage","905"],["dc.bibliographiccitation.volume","171"],["dc.contributor.author","Lehmann, J."],["dc.contributor.author","Schubert, S."],["dc.contributor.author","Schaefer, A."],["dc.contributor.author","Apel, Antje"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Schiller, S."],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T09:34:22Z"],["dc.date.available","2018-11-07T09:34:22Z"],["dc.date.issued","2014"],["dc.identifier.doi","10.1111/bjd.13035"],["dc.identifier.isi","000344007500039"],["dc.identifier.pmid","24702031"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/32156"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1365-2133"],["dc.relation.issn","0007-0963"],["dc.title","An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype"],["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","261"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Human Mutation"],["dc.bibliographiccitation.lastpage","272"],["dc.bibliographiccitation.volume","15"],["dc.contributor.author","Kugler, Wilfried"],["dc.contributor.author","Willaschek, C."],["dc.contributor.author","Holtz, C."],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Krugener, R."],["dc.contributor.author","Muirhead, H."],["dc.contributor.author","Schroter, W."],["dc.contributor.author","Lakomek, Max"],["dc.date.accessioned","2018-11-07T11:07:18Z"],["dc.date.available","2018-11-07T11:07:18Z"],["dc.date.issued","2000"],["dc.description.abstract","Pyruvate kinase (PK) deficiency (PKD) is an autosomal recessive disorder with the typical manifestation of nonspherocytic hemolytic anemia. We analyzed the mutant enzymes of 10 unrelated patients with PKD, whose symptoms ranged from a mild, chronic hemolytic anemia to a severe anemia, by sequence analysis for the presence of alterations in the PKLR gene. In all cases the patients were shown to be compound heterozygous. Eight novel mutations were identified: 458T-->C (Ile153Thr), 656T-->C (Ile219Thr), 877G-->A (Asp293Asn), 991G-->A (Asp331Asn), 1055C-->A (Ala352Asp), 1483G-->A (Ala495Thr), 1649A-->T (Asp550Val), and 183-184ins16bp. This 16 bp duplication produces a frameshift and subsequent stop codon resulting in a drastically reduced mRNA level, and probably in an unstable gene product. Surprisingly, the existence of M2-type PK could be demonstrated in the patient's red blood cells. The study of different polymorphic sites revealed, with one exception, a strict linkage of the 1705C, 1738T, IVS5(+51)T, T(10) polymorphisms and the presence of 14 ATT repeats in intron ii. Our analyses show the consequences of a distorted structure on enzyme function and we discuss the correlations between the mutations identified and the parameters indicative for enzyme function. Hum Mutat 15:261-272, 2000, (C) 2000 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/(SICI)1098-1004(200003)15:3<261::AID-HUMU7>3.0.CO;2-T"],["dc.identifier.isi","000085682600007"],["dc.identifier.pmid","10679942"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52524"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1059-7794"],["dc.title","Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia"],["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","133"],["dc.contributor.author","Schaefer, A."],["dc.contributor.author","Schubert, S."],["dc.contributor.author","Gratchev, Alexei"],["dc.contributor.author","Apel, Antje"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Hofmann, L."],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Mori, T."],["dc.contributor.author","Kobayashi, Nobuhiko"],["dc.contributor.author","Schuerer, Anke"],["dc.contributor.author","Schoen, Michael Peter"],["dc.contributor.author","Emmert, Steffen"],["dc.date.accessioned","2018-11-07T09:25:32Z"],["dc.date.available","2018-11-07T09:25:32Z"],["dc.date.issued","2013"],["dc.format.extent","S130"],["dc.identifier.isi","000317698901055"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/30088"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.publisher.place","New york"],["dc.relation.conference","International Investigative Dermatology Meeting"],["dc.relation.eventlocation","Edinburgh, SCOTLAND"],["dc.relation.issn","0022-202X"],["dc.title","Characterization of 3 novel XPG-defective patients identifies 3 missense mutations that impair repair and transcription"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]