Emmert, Steffen

[["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.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","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"]]

[["dc.bibliographiccitation.firstpage","64"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Experimental Dermatology"],["dc.bibliographiccitation.lastpage","68"],["dc.bibliographiccitation.volume","18"],["dc.contributor.author","Emmert, Steffen"],["dc.contributor.author","Ueda, Takahiro"],["dc.contributor.author","Zumsteg, Urs"],["dc.contributor.author","Weber, Peter"],["dc.contributor.author","Khan, Sikandar G."],["dc.contributor.author","Oh, Kyu-Seon"],["dc.contributor.author","Boyle, Jennifer"],["dc.contributor.author","Laspe, Petra"],["dc.contributor.author","Zachmann, Karolin"],["dc.contributor.author","Boeckmann, Lars"],["dc.contributor.author","Kuschal, Christiane"],["dc.contributor.author","Bircher, Andreas J."],["dc.contributor.author","Kraemer, Kenneth H."],["dc.date.accessioned","2018-11-07T08:34:28Z"],["dc.date.available","2018-11-07T08:34:28Z"],["dc.date.issued","2009"],["dc.description.abstract","We examined the clinical, molecular and genetic features of a 16-year-old boy (XP2GO) with xeroderma pigmentosum (XP) and progressive neurological symptoms. The parents are not consanguineous. Increased sun sensitivity led to the diagnosis of XP at 2 years of age and a strict UV protection scheme was implemented. Besides recurrent conjunctivitis and bilateral pterygium, only mild freckling was present on his lips. He shows absent deep tendon reflexes, progressive sensorineural deafness and progressive mental retardation. MRI shows diffuse frontal cerebral atrophy and dilated ventricles. Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, cataracts, pigmentary retinopathy and spasticity) were absent. XP2GO fibroblasts showed reduced post-UV cell survival (D(37) = 3.8 J/m(2)), reduced nucleotide excision repair, reduced expression of XPD mRNA and an undetectable level of XPD protein. Mutational analysis of the XPD gene in XP2GO revealed two different mutations: a common p.Arg683Trp amino acid change (c.2047C > T) known to be associated with XP and a novel frameshift mutation c.2009delG (p.Gly670Alafs 39). The latter mutation potentially behaves as a null allele. While not preventing neurological degeneration, early diagnosis and rigorous sun protection can result in minimal skin disease without cancer in XP patients."],["dc.identifier.doi","10.1111/j.1600-0625.2008.00763.x"],["dc.identifier.isi","000261622300009"],["dc.identifier.pmid","18637129"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17821"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell Publishing, Inc"],["dc.relation.issn","0906-6705"],["dc.title","Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2)"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]