Thiel, Carsten

[["dc.bibliographiccitation.firstpage","593"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","597"],["dc.bibliographiccitation.volume","77"],["dc.contributor.author","Auber, Bernd"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Thiels, C."],["dc.contributor.author","Alsat, E. A."],["dc.contributor.author","Shoukier, Moneef"],["dc.contributor.author","Liehr, Thomas"],["dc.contributor.author","Nelle, H."],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Salinas-Riester, Gabriela"],["dc.contributor.author","Laccone, Franco A."],["dc.date.accessioned","2018-11-07T08:42:29Z"],["dc.date.available","2018-11-07T08:42:29Z"],["dc.date.issued","2010"],["dc.identifier.doi","10.1111/j.1399-0004.2009.01363.x"],["dc.identifier.isi","000277523400012"],["dc.identifier.pmid","20236119"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/19711"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","0009-9163"],["dc.title","An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient"],["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","472"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","The American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","481"],["dc.bibliographiccitation.volume","74"],["dc.contributor.author","Schwarz, M."],["dc.contributor.author","Thiel, C."],["dc.contributor.author","Lubbehusen, J."],["dc.contributor.author","Dorland, B."],["dc.contributor.author","de Koning, T."],["dc.contributor.author","von Figura, Kurt"],["dc.contributor.author","Lehle, L."],["dc.contributor.author","Korner, C."],["dc.date.accessioned","2018-11-07T10:50:25Z"],["dc.date.available","2018-11-07T10:50:25Z"],["dc.date.issued","2004"],["dc.description.abstract","The molecular nature of a severe multisystemic disorder with a recurrent nonimmune hydrops fetalis was identified as deficiency of GDP-Man: GlcNAc(2)-PP-dolichol mannosyltransferase, the human orthologue of the yeast ALG1 gene (MIM 605907). The disease belongs to the group of congenital disorders of glycosylation (CDG) and is designated as subtype CDG-Ik. In patient-derived serum, the total amount of the glycoprotein transferrin was reduced. Moreover, a partial loss of N-glycan chains was observed, a characteristic feature of CDG type I forms. Metabolic labeling with [6-H-3] glucosamine revealed an accumulation of GlcNAc(2)-PP-dolichol and GlcNAc(1)-PP-dolichol in skin fibroblasts of the patient. Incubation of fibroblast extracts with [C-14] GlcNAc(2)-PP-dolichol and GDP-mannose indicated a severely reduced activity of the beta1,4- mannosyltransferase, elongating GlcNAc(2)-PP-dol-ichol to Man1 GlcNAc(2)-PP-dolichol at the cytosolic side of the endoplasmic reticulum. Genetic analysis of the patient's hALG1 gene identified a homozygous mutation leading to the exchange of a serine residue to leucine at position 258 in the hALG1 protein. The disease-causing nature of the hALG1 mutation for the glycosylation defect was verified by a retroviral complementation approach in patient-derived primary fibroblasts and was confirmed by the expression of wild-type and mutant hALG1 in the Saccharomyces cerevisiae alg1-1 strain."],["dc.identifier.doi","10.1086/382492"],["dc.identifier.isi","000220118500014"],["dc.identifier.pmid","14973778"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/48645"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Univ Chicago Press"],["dc.relation.issn","0002-9297"],["dc.title","Deficiency of GDP-Man : GlcNAc(2)-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik"],["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 Inherited Metabolic Disease"],["dc.bibliographiccitation.volume","28"],["dc.contributor.author","Thiel, C."],["dc.contributor.author","Rindermann, J."],["dc.contributor.author","Luebke, Torben"],["dc.contributor.author","Matthijs, Gert"],["dc.contributor.author","von Figura, K."],["dc.contributor.author","Koerner, Christian"],["dc.date.accessioned","2018-11-07T08:42:01Z"],["dc.date.available","2018-11-07T08:42:01Z"],["dc.date.issued","2005"],["dc.format.extent","199"],["dc.identifier.isi","000267210400398"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/19603"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.publisher.place","Dordrecht"],["dc.relation.issn","0141-8955"],["dc.title","A MOUSE MODEL FOR CONGENITAL DISORDER OF GLYCOSYLATION IA"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","231"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Bibliothek Forschung und Praxis"],["dc.bibliographiccitation.lastpage","241"],["dc.bibliographiccitation.volume","41"],["dc.contributor.author","Buddenbohm, Stefan"],["dc.contributor.author","Matoni, Markus"],["dc.contributor.author","Schmunk, Stefan"],["dc.contributor.author","Thiel, Carsten"],["dc.date.accessioned","2018-06-19T13:17:22Z"],["dc.date.available","2018-06-19T13:17:22Z"],["dc.date.issued","2017"],["dc.description.abstract","Infrastructure for facilitating access to and reuse of research publications and data is well established nowadays. However, such is not the case for software. In spite of documentation and reusability of software being recognised as good scientific practice, and a growing demand for them, the infrastructure and services necessary for software are still in their infancy. This paper explores how quality assessment may be utilised for evaluating the infrastructure for software, and to ascertain the effort required to archive software and make it available for future use. The paper focuses specifically on digital humanities and related ESFRI projects."],["dc.identifier.doi","10.1515/bfp-2017-0024"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/15119"],["dc.language.iso","en"],["dc.notes.intern","DeepGreen Import"],["dc.notes.status","final"],["dc.publisher","De Gruyter"],["dc.relation.eissn","1865-7648"],["dc.relation.issn","0341-4183"],["dc.relation.orgunit","Forschung und Entwicklung"],["dc.rights","This content is free."],["dc.title","Quality Assessment for the Sustainable Provision of Software Components and Digital Research Infrastructures for the Arts and Humanities"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.seriesnr","13"],["dc.contributor.author","Meiners, Hanna-Lena"],["dc.contributor.author","Buddenbohm, Stefan"],["dc.contributor.author","Thiel, Carsten"],["dc.date.accessioned","2020-12-16T11:26:01Z"],["dc.date.available","2020-12-16T11:26:01Z"],["dc.date.issued","2015"],["dc.description.abstract","Participatory Design ist ein Ansatz aus der Software-Entwicklung, bei dem Benutzer und Entwickler zusammenarbeiten, um sicherzustellen, dass das zu entwickelnde Produkt den Anforderungen der Zielgruppe entspricht. Ziel ist es, vom Wissen der jeweils anderen Gruppe zu profitieren: Entwickler kennen die Technologien, während auf der anderen Seite die Nutzer über Anwendungswissen und Anforderungen aus dem jeweiligen Arbeits- oder Forschungsfeld verfügen und den späteren Anwendungskontext genau beschreiben können."],["dc.description.abstract","Im vorliegenden Dokument wird die Anwendung des Participatory Designs im Rahmen der Entwicklung einer Virtuellen Forschungsumgebung (VRE) für die Geschichtswissenschaft gezeigt und die dabei gemachten Erfahrungen vorgestellt."],["dc.format.extent","31"],["dc.identifier.ppn","833547305"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/79124"],["dc.publisher","DARIAH-DE"],["dc.publisher.place","Göttingen"],["dc.relation.crisseries","DARIAH-DE Working Papers"],["dc.relation.ispartofseries","DARIAH-DE Working Papers;13"],["dc.relation.orgunit","Forschung und Entwicklung"],["dc.relation.orgunit","Niedersächsische Staats- und Universitätsbibliothek Göttingen"],["dc.rights","CC BY 4.0"],["dc.title","Participatory Design bei der Erstellung einer Virtuellen Forschungsumgebung für die Geschichtswissenschaft"],["dc.type","working_paper"],["dc.type.internalPublication","yes"],["dc.type.version","unpublished"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","195"],["dc.bibliographiccitation.journal","Biochemical Journal"],["dc.bibliographiccitation.lastpage","201"],["dc.bibliographiccitation.volume","367"],["dc.contributor.author","Thiel, C."],["dc.contributor.author","Schwarz, M."],["dc.contributor.author","Hasilik, M."],["dc.contributor.author","Grieben, Ulrike"],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","Lehle, L."],["dc.contributor.author","von Figura, Kurt"],["dc.contributor.author","Korner, C."],["dc.date.accessioned","2018-11-07T09:57:34Z"],["dc.date.available","2018-11-07T09:57:34Z"],["dc.date.issued","2002"],["dc.description.abstract","Deficiency of the endoplasmic reticulum enzyme dolichyl-phosphate mannose (Dol-P-Man): Man(7)GlcNAc(2)-PP-dolichyl mannosyltransferase leads to a new type of congenital disorder of glycosylation, designated type Ig. The patient 1 presented with a multisystemic disorder with microcephaly, developmental retardation, convulsions and dysmorphic signs. The isoelectric focusing pattern of the patient's serum transferrin showed the partial loss of complete N-glycan side chains. In skin fibroblasts from the patient, the activity of Dol-P-Man: Man(7)GlcNAc(2)-PP-Dol mannosyltransferase was severely reduced leading to the accumulation of Man(7)GlcNAc(2)-PP-Dol, which was transferred to newly synthesized glycoproteins. Sequencing of the Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol mannosyltransferase cDNA revealed a compound heterozygosity for two point mutations, leading to the exchange of leucine(158) for a proline residue and a premature translation stop with loss of the C-terminal 74 amino acids. The parents were heterozygous for one of the two mutations. Retroviral expression of the wild-type Dol-P-Man: Man(7)GlcNAc(2)-PP-Dol mannosyltransferase cDNA in patient's fibroblasts normalized the mannosyltransferase activity."],["dc.identifier.doi","10.1042/BJ20020794"],["dc.identifier.isi","000178571200023"],["dc.identifier.pmid","12093361"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37188"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Portland Press"],["dc.relation.issn","0264-6021"],["dc.title","Deficiency of dolichyl-P-Man: Man(7)GlcNAc(2)-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","725"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Journal of Clinical Investigation"],["dc.bibliographiccitation.lastpage","733"],["dc.bibliographiccitation.volume","109"],["dc.contributor.author","Hansske, B."],["dc.contributor.author","Thiel, C."],["dc.contributor.author","Lubke, T."],["dc.contributor.author","Hasilik, M."],["dc.contributor.author","Honing, S."],["dc.contributor.author","Peters, V."],["dc.contributor.author","Heidemann, P. H."],["dc.contributor.author","Hoffmann, Georg F."],["dc.contributor.author","Berger, E. G."],["dc.contributor.author","von Figura, Kurt"],["dc.contributor.author","Korner, C."],["dc.date.accessioned","2018-11-07T10:31:24Z"],["dc.date.available","2018-11-07T10:31:24Z"],["dc.date.issued","2002"],["dc.description.abstract","Deficiency of the Golgi enzyme UDP-Gal:N-acetylglucosamine beta-1,4-galactosyltransferase I (beta4GalT I) (E.C.2.4.1.38) causes a new congenital disorder of glycosylation (CDG), designated type IId (CDG-IId), a severe neurologic disease characterized by a hydrocephalus, myopathy, and blood-clotting defects. Analysis of oligosaccharides from serum transferrin by HPLC, mass spectrometry, and lectin binding revealed the loss of sialic acid and galactose residues. In skin fibroblasts and leukocytes, galactosyltransferase activity was reduced to 5% that of controls. In fibroblasts, a truncated polypeptide was detected that was about 12 kDa smaller in size than wild-type beta4GalT I and that failed to localize to the Golgi apparatus. Sequencing of the beta4GaIT I cDNA and gene revealed an insertion of a single nucleotide (1031-1032insC) leading to premature translation stop and loss of the C-terminal 50 amino acids of the enzyme. The patient was homozygous and his parents hererozygous for this mutation. Expression of a corresponding mutant cDNA in COS-7 cells led to the synthesis of a truncated, inactive polypeptide, which localized to the endoplasmic reticulum."],["dc.identifier.doi","10.1172/JCI200214010"],["dc.identifier.isi","000174490600008"],["dc.identifier.pmid","11901181"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/44099"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Soc Clinical Investigation Inc"],["dc.relation.issn","0021-9738"],["dc.title","Deficiency of UDP-galactose : N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Journal on Computing and Cultural Heritage"],["dc.bibliographiccitation.lastpage","20"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Boukhelifa, Nadia"],["dc.contributor.author","Bryant, Mike"],["dc.contributor.author","Bulatović, Nataša"],["dc.contributor.author","Čukić, Ivan"],["dc.contributor.author","Fekete, Jean-Daniel"],["dc.contributor.author","Knežević, Milica"],["dc.contributor.author","Lehmann, Jörg"],["dc.contributor.author","Stuart, David"],["dc.contributor.author","Thiel, Carsten"],["dc.date.accessioned","2020-12-10T18:37:37Z"],["dc.date.available","2020-12-10T18:37:37Z"],["dc.date.issued","2018"],["dc.identifier.doi","10.1145/3092906"],["dc.identifier.eissn","1556-4711"],["dc.identifier.issn","1556-4673"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/77037"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","The CENDARI Infrastructure"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.contributor.author","Thiel, Carsten"],["dc.date.accessioned","2020-12-16T11:16:31Z"],["dc.date.available","2020-12-16T11:16:31Z"],["dc.date.issued","2015"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/79117"],["dc.relation.conference","DARIAH-DE Metahosting-Workshop"],["dc.relation.date","2015-06-30"],["dc.relation.orgunit","Forschung und Entwicklung"],["dc.title","DevOps für CENDARI: Forschungsinfrastruktur mit puppet und Vagrant"],["dc.type","lecture"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Experimental Dermatology"],["dc.bibliographiccitation.volume","18"],["dc.contributor.author","Hueffmeier, Ulrike"],["dc.contributor.author","Lascorz, Jesus"],["dc.contributor.author","Becker, T."],["dc.contributor.author","Schuermeyer-Horst, F."],["dc.contributor.author","Magener, A."],["dc.contributor.author","Ekici, Arif B."],["dc.contributor.author","Endele, S."],["dc.contributor.author","Thiel, C. T."],["dc.contributor.author","Thoma-Uszynski, S."],["dc.contributor.author","Moessner, R."],["dc.contributor.author","Reich, Kristian"],["dc.contributor.author","Kurrat, Werner"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Traupe, Heiko"],["dc.contributor.author","Reis, A."],["dc.date.accessioned","2018-11-07T08:32:02Z"],["dc.date.available","2018-11-07T08:32:02Z"],["dc.date.issued","2009"],["dc.format.extent","285"],["dc.identifier.isi","000263520200076"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17252"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell Publishing, Inc"],["dc.publisher.place","Malden"],["dc.relation.conference","36th Annual Meeting of the Arbeitsgemeinschaft-Dermatologishche-Forschung"],["dc.relation.eventlocation","Heidelberg, GERMANY"],["dc.relation.issn","0906-6705"],["dc.title","Characterization of Psoriasis Susceptibility Locus 6 (PSORS6) in Patients with Early Onset Psoriasis and Evidence for Interaction with PSORS1"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]