Krawczak, Michael

[["dc.bibliographiccitation.firstpage","1069"],["dc.bibliographiccitation.issue","16"],["dc.bibliographiccitation.journal","European Heart Journal"],["dc.bibliographiccitation.lastpage","1077"],["dc.bibliographiccitation.volume","35"],["dc.contributor.author","Meder, Benjamin"],["dc.contributor.author","Rühle, Frank"],["dc.contributor.author","Weis, Tanja"],["dc.contributor.author","Homuth, Georg"],["dc.contributor.author","Keller, Andreas"],["dc.contributor.author","Franke, Jennifer"],["dc.contributor.author","Peil, Barbara"],["dc.contributor.author","Bermejo, Justo Lorenzo"],["dc.contributor.author","Frese, Karen"],["dc.contributor.author","Huge, Andreas"],["dc.contributor.author","Witten, Anika"],["dc.contributor.author","Vogel, Britta"],["dc.contributor.author","Haas, Jan"],["dc.contributor.author","Völker, Uwe"],["dc.contributor.author","Ernst, Florian"],["dc.contributor.author","Teumer, Alexander"],["dc.contributor.author","Ehlermann, Philipp"],["dc.contributor.author","Zugck, Christian"],["dc.contributor.author","Friedrichs, Frauke"],["dc.contributor.author","Kroemer, Heyo"],["dc.contributor.author","Dörr, Marcus"],["dc.contributor.author","Hoffmann, Wolfgang"],["dc.contributor.author","Maisch, Bernhard"],["dc.contributor.author","Pankuweit, Sabine"],["dc.contributor.author","Ruppert, Volker"],["dc.contributor.author","Scheffold, Thomas"],["dc.contributor.author","Kühl, Uwe"],["dc.contributor.author","Schultheiss, Hans-Peter"],["dc.contributor.author","Kreutz, Reinhold"],["dc.contributor.author","Ertl, Georg"],["dc.contributor.author","Angermann, Christiane"],["dc.contributor.author","Charron, Philippe"],["dc.contributor.author","Villard, Eric"],["dc.contributor.author","Gary, Françoise"],["dc.contributor.author","Isnard, Richard"],["dc.contributor.author","Komajda, Michel"],["dc.contributor.author","Lutz, Matthias"],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Sinner, Moritz F."],["dc.contributor.author","Wichmann, H.-Erich"],["dc.contributor.author","Krawczak, Michael"],["dc.contributor.author","Ivandic, Boris"],["dc.contributor.author","Weichenhan, Dieter"],["dc.contributor.author","Gelbrich, Goetz"],["dc.contributor.author","El-Mokhtari, Nour-Eddine"],["dc.contributor.author","Schreiber, Stefan"],["dc.contributor.author","Felix, Stephan B."],["dc.contributor.author","Hasenfuß, Gerd"],["dc.contributor.author","Pfeufer, Arne"],["dc.contributor.author","Hübner, Norbert"],["dc.contributor.author","Kääb, Stefan"],["dc.contributor.author","Arbustini, Eloisa"],["dc.contributor.author","Rottbauer, Wolfgang"],["dc.contributor.author","Frey, Norbert"],["dc.contributor.author","Stoll, Monika"],["dc.contributor.author","Katus, Hugo A."],["dc.date.accessioned","2017-09-07T11:46:19Z"],["dc.date.available","2017-09-07T11:46:19Z"],["dc.date.issued","2014"],["dc.description.abstract","Aims Dilated cardiomyopathy (DCM) is one of the leading causes for cardiac transplantations and accounts for up to one-third of all heart failure cases. Since extrinsic and monogenic causes explain only a fraction of all cases, common genetic variants are suspected to contribute to the pathogenesis of DCM, its age of onset, and clinical progression. By a large-scale case-control genome-wide association study we aimed here to identify novel genetic risk loci for DCM. Methods and reuslts Applying a three-staged study design, we analysed more than 4100 DCM cases and 7600 controls. We identified and successfully replicated multiple single nucleotide polymorphism on chromosome 6p21. In the combined analysis, the most significant association signal was obtained for rs9262636 (P = 4.90 x 10(-9)) located in HCG22, which could again be replicated in an independent cohort. Taking advantage of expression quantitative trait loci (eQTL) as molecular phenotypes, we identified rs9262636 as an eQTL for several closely located genes encoding class I and class II major histocompatibility complex heavy chain receptors. Conclusion The present study reveals a novel genetic susceptibility locus that clearly underlines the role of genetically driven, inflammatory processes in the pathogenesis of idiopathic DCM."],["dc.identifier.doi","10.1093/eurheartj/eht251"],["dc.identifier.gro","3142146"],["dc.identifier.isi","000335813500015"],["dc.identifier.pmid","23853074"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/5044"],["dc.language.iso","en"],["dc.notes.intern","WoS Import 2017-03-10 / Funder: Bndesministerium fur Bildung und Forschung' (BMBF)"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.eissn","1522-9645"],["dc.relation.issn","0195-668X"],["dc.title","A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1109"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Biology of Reproduction"],["dc.bibliographiccitation.lastpage","1113"],["dc.bibliographiccitation.volume","72"],["dc.contributor.author","Krawczak, Michael"],["dc.contributor.author","Trefilov, Andrea"],["dc.contributor.author","Berard, John"],["dc.contributor.author","Bercovitch, Fred"],["dc.contributor.author","Kessler, Matthew"],["dc.contributor.author","Sauermann, Ulrike"],["dc.contributor.author","Croucher, Peter"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Widdig, Anja"],["dc.contributor.author","Schmidtke, Jörg"],["dc.date.accessioned","2022-10-06T13:35:19Z"],["dc.date.available","2022-10-06T13:35:19Z"],["dc.date.issued","2005"],["dc.identifier.doi","10.1095/biolreprod.104.038059"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/116066"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-602"],["dc.relation.eissn","1529-7268"],["dc.relation.issn","0006-3363"],["dc.relation.orgunit","Deutsches Primatenzentrum"],["dc.title","Male Reproductive Timing in Rhesus Macaques Is Influenced by the 5HTTLPR Promoter Polymorphism of the Serotonin Transporter Gene1"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","24"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Nature Genetics"],["dc.bibliographiccitation.lastpage","26"],["dc.bibliographiccitation.volume","42"],["dc.contributor.author","Mangold, Elisabeth"],["dc.contributor.author","Ludwig, Kerstin U."],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Baluardo, Carlotta"],["dc.contributor.author","Ferrian, Melissa"],["dc.contributor.author","Herms, Stefan"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","de Assis, Nilma Almeida"],["dc.contributor.author","Al Chawa, Taofik"],["dc.contributor.author","Mattheisen, Manuel"],["dc.contributor.author","Steffens, Michael"],["dc.contributor.author","Barth, Sandra"],["dc.contributor.author","Kluck, Nadine"],["dc.contributor.author","Paul, Anna"],["dc.contributor.author","Becker, Jessica"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Schmidt, Guel"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Poetzsch, Simone"],["dc.contributor.author","Blaumeiser, Bettina"],["dc.contributor.author","Moebus, Susanne"],["dc.contributor.author","Krawczak, Michael"],["dc.contributor.author","Schreiber, Stefan"],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Wichmann, Hans-Erich"],["dc.contributor.author","Steegers-Theunissen, Regine P."],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Cichon, Sven"],["dc.contributor.author","Propping, Peter"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Rubini, Michele"],["dc.contributor.author","Mossey, Peter A."],["dc.contributor.author","Hoffmann, Per"],["dc.contributor.author","Noethen, Markus M."],["dc.date.accessioned","2018-11-07T08:48:11Z"],["dc.date.available","2018-11-07T08:48:11Z"],["dc.date.issued","2010"],["dc.description.abstract","We conducted a genome-wide association study for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 NSCL/P triads. We report two new loci associated with NSCL/P at 17q22 (rs227731, combined P = 1.07 x 10(-8), relative risk in homozygotes = 1.84, 95% CI 1.34-2.53) and 10q25.3 (rs7078160, combined P = 1.92 x 10(-8), relative risk in homozygotes = 2.17, 95% CI 1.32-3.56)."],["dc.identifier.doi","10.1038/ng.506"],["dc.identifier.isi","000273055100011"],["dc.identifier.pmid","20023658"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6200"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/21148"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1546-1718"],["dc.relation.issn","1061-4036"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","522"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","European Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","525"],["dc.bibliographiccitation.volume","18"],["dc.contributor.author","Goebel, Juergen W."],["dc.contributor.author","Pickardt, Thomas"],["dc.contributor.author","Bedau, Maren"],["dc.contributor.author","Fuchs, Michael"],["dc.contributor.author","Lenk, Christian"],["dc.contributor.author","Paster, Inga"],["dc.contributor.author","Spranger, Tarde M."],["dc.contributor.author","Stockter, Ulrich"],["dc.contributor.author","Bauer, Ulrike"],["dc.contributor.author","Cooper, David N."],["dc.contributor.author","Krawczak, Michael"],["dc.date.accessioned","2018-11-07T08:43:16Z"],["dc.date.available","2018-11-07T08:43:16Z"],["dc.date.issued","2010"],["dc.description.abstract","The international transfer of human biomaterial and data has become a prerequisite for collaborative biomedical research to be successful. However, although a national legal framework for 'biobanking' has already been formulated in many countries, little is known about how an international exchange of data and samples might affect the legal position of national biobanks and their donors. The German Telematics Platform and the Competence Network 'Congenital Heart Defects' jointly instigated a project(BMB-EUCoop) to (i) identify and assess the legal risks ensuing for biobanks and their donors in the context of Europe-wide research collaborations, (ii) devise practical recommendations to minimize or avoid these risks, and (iii) provide generic informational text, contracts and agreements to facilitate their practical implementation. Four different countries were included in the study; namely, the UK, Netherlands, Austria and Switzerland. The results of the study indicate that the degree of similarity between legal systems in different countries varies according to the respective field of jurisdiction. Although personality and property rights have long been enshrined in virtually identical pieces of law, the applicable medical professional regulations were found to be somewhat heterogeneous. Furthermore, clear-cut differences were often found to be lacking between regulations that reflect either 'soft law' or the nationally binding 'hard law' that has emerged from it. In view of the potential ambiguities, the experts uniformly concluded that the rights and interests of national (in this case, German) biobanks and their donors would be best protected by explicitly addressing any uncertainties in formal contractual agreements. European Journal of Human Genetics (2010) 18, 522-525; doi:10.1038/ejhg.2009.214; published online 2 December 2009"],["dc.description.sponsorship","German Federal Ministry of Education and Research [V010-02]"],["dc.identifier.doi","10.1038/ejhg.2009.214"],["dc.identifier.isi","000276955500003"],["dc.identifier.pmid","19953124"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/19918"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1018-4813"],["dc.title","Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","24"],["dc.bibliographiccitation.journal","Parkinsonism & Related Disorders"],["dc.bibliographiccitation.lastpage","26"],["dc.bibliographiccitation.volume","75"],["dc.contributor.author","Hopfner, Franziska"],["dc.contributor.author","Mueller, Stefanie H."],["dc.contributor.author","Szymczak, Silke"],["dc.contributor.author","Junge, Olaf"],["dc.contributor.author","Tittmann, Lukas"],["dc.contributor.author","May, Sandra"],["dc.contributor.author","Lohmann, Katja"],["dc.contributor.author","Grallert, Harald"],["dc.contributor.author","Lieb, Wolfgang"],["dc.contributor.author","Strauch, Konstantin"],["dc.contributor.author","Müller-Nurasyid, Martina"],["dc.contributor.author","Berger, Klaus"],["dc.contributor.author","Schormair, Barbara"],["dc.contributor.author","Winkelmann, Juliane"],["dc.contributor.author","Mollenhauer, Brit"],["dc.contributor.author","Trenkwalder, Claudia"],["dc.contributor.author","Maetzler, Walter"],["dc.contributor.author","Berg, Daniela"],["dc.contributor.author","Kasten, Meike"],["dc.contributor.author","Klein, Christine"],["dc.contributor.author","Höglinger, Günter U."],["dc.contributor.author","Gasser, Thomas"],["dc.contributor.author","Deuschl, Günther"],["dc.contributor.author","Franke, André"],["dc.contributor.author","Krawczak, Michael"],["dc.contributor.author","Dempfle, Astrid"],["dc.contributor.author","Kuhlenbäumer, Gregor"],["dc.date.accessioned","2021-04-14T08:25:55Z"],["dc.date.available","2021-04-14T08:25:55Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1016/j.parkreldis.2020.05.003"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/81769"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.relation.issn","1353-8020"],["dc.title","Private variants in PRKN are associated with late-onset Parkinson's disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","278"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Medizinische Genetik"],["dc.bibliographiccitation.lastpage","283"],["dc.bibliographiccitation.volume","25"],["dc.contributor.author","Mathieu, N."],["dc.contributor.author","Loehnhardt, B."],["dc.contributor.author","Gruetz, R."],["dc.contributor.author","Weil, P."],["dc.contributor.author","Drepper, J."],["dc.contributor.author","Krawczak, Michael"],["dc.date.accessioned","2018-11-07T09:23:52Z"],["dc.date.available","2018-11-07T09:23:52Z"],["dc.date.issued","2013"],["dc.description.abstract","The development of DNA sequencing technologies challenges human genome research considerably regarding its legal and ethical consequences. The deep insights into the genetic endowment of an individual that are already possible today are of potentially great importance for the current and future health status of the individual. Furthermore, genomic data also allow conclusions about the identity and genetic properties of close blood relatives to be drawn. Owing to their inherently personal nature, genomic data require particularly careful treatment. Alongside appropriate informed consent from all participants, central elements of responsible genomic data management within the framework of a research project include anonymization/pseudonymization of the data and separation of data management responsibilities. Additionally and in keeping with good scientific practice, time constraints and regulations pertaining to the retention of data must be adhered to. These aspects will be highlighted in the present article and discussed in terms of their implementation into scientific practice."],["dc.identifier.doi","10.1007/s11825-013-0380-1"],["dc.identifier.isi","000321323000011"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29687"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","1863-5490"],["dc.title","Ethical and legal implications of storing human genomic data"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e0224082"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","PLoS One"],["dc.bibliographiccitation.volume","14"],["dc.contributor.author","Winkler, Michael"],["dc.contributor.author","Gärtner, Sabine"],["dc.contributor.author","Markus, Lara"],["dc.contributor.author","Hoffmann, Markus"],["dc.contributor.author","Nehlmeier, Inga"],["dc.contributor.author","Krawczak, Michael"],["dc.contributor.author","Sauermann, Ulrike"],["dc.contributor.author","Pöhlmann, Stefan"],["dc.date.accessioned","2019-11-05T08:51:28Z"],["dc.date.accessioned","2021-10-27T13:13:08Z"],["dc.date.available","2019-11-05T08:51:28Z"],["dc.date.available","2021-10-27T13:13:08Z"],["dc.date.issued","2019"],["dc.description.abstract","The experimental infection of rhesus macaques (rh) with simian immunodeficiency virus (SIV) is an important model for human immunodeficiency virus (HIV) infection of humans. The interferon-induced transmembrane protein 3 (IFITM3) inhibits HIV and SIV infection at the stage of host cell entry. However, it is still unclear to what extent the antiviral activity of IFITM3 observed in cell culture translates into inhibition of HIV/SIV spread in the infected host. We have shown previously that although rhIFITM3 inhibits SIV entry into cultured cells, polymorphisms in the rhIFITM3 gene are not strongly associated with viral load or disease progression in SIV infected macaques. Here, we examined whether rhIFITM3(2), which is closely related to rhIFITM3 at the sequence level, exerts antiviral activity and whether polymorphisms in the rhIFITM3(2) gene impact the course of SIV infection. We show that expression of rhIFITM3(2) is interferon-inducible and inhibits SIV entry into cells, although with reduced efficiency as compared to rhIFITM3. We further report the identification of 19 polymorphisms in the rhIFITM3(2) gene. However, analysis of a well characterized cohort of SIV infected macaques revealed that none of the polymorphisms had a significant impact upon the course of SIV infection. These results and our previous work suggest that polymorphisms in the rhIFITM3 and rhIFITM3(2) genes do not strongly modulate the course of SIV infection in macaques."],["dc.identifier.doi","10.1371/journal.pone.0224082"],["dc.identifier.pmid","31682595"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/16596"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/91754"],["dc.language.iso","en"],["dc.notes.intern","Migrated from goescholar"],["dc.relation.eissn","1932-6203"],["dc.relation.issn","1932-6203"],["dc.relation.orgunit","Deutsches Primatenzentrum"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject.ddc","599"],["dc.title","Role of rhesus macaque IFITM3(2) in simian immunodeficiency virus infection of macaques"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","200"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","209"],["dc.bibliographiccitation.volume","45"],["dc.contributor.author","Witsch-Baumgartner, M."],["dc.contributor.author","Schwentner, I."],["dc.contributor.author","Gruber, M."],["dc.contributor.author","Benlian, P."],["dc.contributor.author","Bertranpetit, J."],["dc.contributor.author","Bieth, E."],["dc.contributor.author","Chevy, F."],["dc.contributor.author","Clusellas, N."],["dc.contributor.author","Estivill, X."],["dc.contributor.author","Gasparini, G."],["dc.contributor.author","Giros, M."],["dc.contributor.author","Kelley, R. I."],["dc.contributor.author","Krajewska-Walasek, M."],["dc.contributor.author","Menzel, J."],["dc.contributor.author","Miettinen, T."],["dc.contributor.author","Ogorelkova, M."],["dc.contributor.author","Rossi, M."],["dc.contributor.author","Scala, I."],["dc.contributor.author","Schinzel, A."],["dc.contributor.author","Schmidt, K."],["dc.contributor.author","Schoenitzer, D."],["dc.contributor.author","Seemanova, E."],["dc.contributor.author","Sperling, K."],["dc.contributor.author","Syrrou, M."],["dc.contributor.author","Talmud, P. J."],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Krawczak, M."],["dc.contributor.author","Labuda, D."],["dc.contributor.author","Utermann, G."],["dc.date.accessioned","2017-09-07T11:48:45Z"],["dc.date.available","2017-09-07T11:48:45Z"],["dc.date.issued","2008"],["dc.description.abstract","Background: Smith-Lemli-Opitz syndrome (SLOS) (MIM 270 400) is an autosomal recessive multiple congenital anomalies/mental retardation syndrome caused by mutations in the Delta 7-sterol reductase (DHCR7, E.C.1.3.1.21) gene. The prevalence of SLOS has been estimated to range between 1: 15000 and 1: 60000 in populations of European origin. Methods and results: We have analysed the frequency, origin, and age of DHCR7 mutations in European populations. In 263 SLOS patients 10 common alleles (c.964-1G>C, p.Trp151X, p.Thr93Met, p.Val326Leu, p.Arg352Trp, p.Arg404Cys, p.Phe302Leu, p.Leu157Pro, p.Gly410Ser, p.Arg445Gln) were found to constitute approximately 80% of disease-causing mutations. As reported before, the mutational spectra differed significantly between populations, and frequency peaks of common mutations were observed in North-West (c.9641G>C), North-East (p.Trp151X, p.Val326Leu) and Southern Europe (p.Thr93Met). SLOS was virtually absent from Finland. The analysis of nearly 8000 alleles from 10 different European populations confirmed a geographical distribution of DHCR7 mutations as reported in previous studies. The common Null mutations in Northern Europe (combined ca. 1: 70) occurred at a much higher frequency than expected from the reported prevalence of SLOS. In contrast the most common mutation in Mediterranean SLOS patients (p.Thr93Met) had a low population frequency. Haplotypes were constructed for SLOS chromosomes, and for wild-type chromosomes of African and European origins using eight cSNPs in the DHCR7 gene. The DHCR7 orthologue was sequenced in eight chimpanzees (Pan troglodytes) and three microsatellites were analysed in 50 of the SLOS families in order to estimate the age of the three major SLOS-causing mutations. Conclusions: The results indicate a time of first appearance of c.964-1G>C and p.Trp151X some 3000 years ago in North-West and North-East Europe, respectively. The p.Thr93Met mutations on the J haplotype has probably first arisen approximately 6000 years ago in the Eastern Mediterranean. Together, it appears that a combination of founder effects, recurrent mutations, and drift have shaped the present frequency distribution of DHCR7 mutations in Europe."],["dc.identifier.doi","10.1136/jmg.2007.053520"],["dc.identifier.gro","3143326"],["dc.identifier.isi","000254562600002"],["dc.identifier.pmid","17965227"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/828"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0022-2593"],["dc.title","Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","388"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Medizinische Genetik"],["dc.bibliographiccitation.lastpage","394"],["dc.bibliographiccitation.volume","25"],["dc.contributor.author","Gruetz, R."],["dc.contributor.author","Mathieu, N."],["dc.contributor.author","Loehnhardt, B."],["dc.contributor.author","Weil, P."],["dc.contributor.author","Krawczak, Michael"],["dc.date.accessioned","2018-11-07T09:20:09Z"],["dc.date.available","2018-11-07T09:20:09Z"],["dc.date.issued","2013"],["dc.description.abstract","In view of the increasing amount of data arising from genome research, efficient research data management is becoming increasingly important in this domain. The third, and last, article of the series on \"Research data management for genome data\" describes the general lifecycle of research data-from their planning via the selection and inclusion into storage facilities to preservation measures and final user access. Archives play an important role in nearly all phases of this life cycle, which renders them an important component of genome data processing. Three exemplary public archives for genome data are introduced: the European Molecular Biology Laboratory (EMBL) databank, the Sequence Read Archive, and the Trace Archive. Owing to the high level of specialization of these institutions, however, additional archives are required that allow more generic data storage or, alternatively, easy extension to other genome data types. A generic concept for such archives will be described and recommendations given for their practical implementation."],["dc.identifier.doi","10.1007/s11825-013-0403-y"],["dc.identifier.isi","000328077600009"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/28816"],["dc.identifier.url","https://sfb1002.med.uni-goettingen.de/production/literature/publications/21"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation","SFB 1002: Modulatorische Einheiten bei Herzinsuffizienz"],["dc.relation","SFB 1002 | INF: Unterstützung der SFB 1002 Forschungsdatenintegration, -visualisierung und -nachnutzung"],["dc.relation.issn","1863-5490"],["dc.relation.workinggroup","RG Nußbeck"],["dc.title","Archivierung von Genomdaten"],["dc.title.alternative","Archiving genome data"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original_ja"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e25474"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","PLoS ONE"],["dc.bibliographiccitation.volume","6"],["dc.contributor.author","Siddiqui, Roman A."],["dc.contributor.author","Krawczak, Michael"],["dc.contributor.author","Platzer, Matthias"],["dc.contributor.author","Sauermann, Ulrike"],["dc.date.accessioned","2019-07-09T11:54:02Z"],["dc.date.available","2019-07-09T11:54:02Z"],["dc.date.issued","2011-10-13"],["dc.description.abstract","In HIV infection, TLR7-triggered IFN-a production exerts a direct antiviral effect through the inhibition of viral replication, but may also be involved in immune pathogenesis leading to AIDS. TLR7 could also be an important mediator of vaccine efficacy. In this study, we analyzed polymorphisms in the X-linked TLR7 gene in the rhesus macaque model of AIDS. Upon resequencing of the TLR7 gene in 36 rhesus macaques of Indian origin, 12 polymorphic sites were detected. Next, we identified three tightly linked single nucleotide polymorphisms (SNP) as being associated with survival time. Genotyping of 119 untreated, simian immunodeficiency virus (SIV)-infected male rhesus macaques, including an ‘MHC adjusted’ subset, revealed that the three TLR7 SNPs are also significantly associated with set-point viral load. Surprisingly, this effect was not observed in 72 immunized SIV-infected male monkeys. We hypothesize (i) that SNP c.13G.A in the leader peptide is causative for the observed genotype-phenotype association and that (ii) the underlying mechanism is related to RNA secondary structure formation. Therefore, we investigated a fourth SNP (c.-17C.T), located 17 bp upstream of the ATG translation initiation codon, that is also potentially capable of influencing RNA structure. In c.13A carriers, neither set-point viral load nor survival time were related to the c.-17C.T genotype. In c.13G carriers, by contrast, the c.-17C allele was significantly associated with prolonged survival. Again, no such association was detected among immunized SIV-infected macaques. Our results highlight the dual role of TLR7 in immunodeficiency virus infection and vaccination and imply that it may be important to control human AIDS vaccine trials, not only for MHC genotype, but also for TLR7 genotype."],["dc.format.extent","10"],["dc.identifier.doi","10.1371/journal.pone.0025474"],["dc.identifier.pmid","22022401"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/8344"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/60554"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.relation.issn","1932-6203"],["dc.rights","CC BY 2.5"],["dc.rights.uri","https://creativecommons.org/licenses/by/2.5"],["dc.title","Association of TLR7 Variants with AIDS-Like Disease and AIDS Vaccine Efficacy in Rhesus Macaques"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]