Rebs, Sabine

[["dc.bibliographiccitation.firstpage","9"],["dc.bibliographiccitation.journal","Journal of Molecular and Cellular Cardiology"],["dc.bibliographiccitation.lastpage","21"],["dc.bibliographiccitation.volume","113"],["dc.contributor.author","Streckfuss-Bömeke, Katrin"],["dc.contributor.author","Tiburcy, Malte"],["dc.contributor.author","Fomin, Andrey"],["dc.contributor.author","Luo, Xiaojing"],["dc.contributor.author","Li, Wener"],["dc.contributor.author","Fischer, Claudia"],["dc.contributor.author","Özcelik, Cemil"],["dc.contributor.author","Perrot, Andreas"],["dc.contributor.author","Sossalla, Samuel"],["dc.contributor.author","Haas, Jan"],["dc.contributor.author","Vidal, Ramon Oliveira"],["dc.contributor.author","Rebs, Sabine"],["dc.contributor.author","Khadjeh, Sara"],["dc.contributor.author","Meder, Benjamin"],["dc.contributor.author","Bonn, Stefan"],["dc.contributor.author","Linke, Wolfgang A."],["dc.contributor.author","Zimmermann, Wolfram-Hubertus"],["dc.contributor.author","Guan, Kaomei"],["dc.contributor.author","Hasenfuss, Gerd"],["dc.date.accessioned","2018-04-23T11:49:17Z"],["dc.date.available","2018-04-23T11:49:17Z"],["dc.date.issued","2017"],["dc.description.abstract","The ability to generate patient-specific induced pluripotent stem cells (iPSCs) provides a unique opportunity for modeling heart disease in vitro. In this study, we generated iPSCs from a patient with dilated cardiomyopathy (DCM) caused by a missense mutation S635A in RNA-binding motif protein 20 (RBM20) and investigated the functionality and cell biology of cardiomyocytes (CMs) derived from patient-specific iPSCs (RBM20-iPSCs). The RBM20-iPSC-CMs showed abnormal distribution of sarcomeric α-actinin and defective calcium handling compared to control-iPSC-CMs, suggesting disorganized myofilament structure and altered calcium machinery in CMs of the RBM20 patient. Engineered heart muscles (EHMs) from RBM20-iPSC-CMs showed that not only active force generation was impaired in RBM20-EHMs but also passive stress of the tissue was decreased, suggesting a higher visco-elasticity of RBM20-EHMs. Furthermore, we observed a reduced titin (TTN) N2B-isoform expression in RBM20-iPSC-CMs by demonstrating a reduction of exon skipping in the PEVK region of TTN and an inhibition of TTN isoform switch. In contrast, in control-iPSC-CMs both TTN isoforms N2B and N2BA were expressed, indicating that the TTN isoform switch occurs already during early cardiogenesis. Using next generation RNA sequencing, we mapped transcriptome and splicing target profiles of RBM20-iPSC-CMs and identified different cardiac gene networks in response to the analyzed RBM20 mutation in cardiac-specific processes. These findings shed the first light on molecular mechanisms of RBM20-dependent pathological cardiac remodeling leading to DCM. Our data demonstrate that iPSC-CMs coupled with EHMs provide a powerful tool for evaluating disease-relevant functional defects and for a deeper mechanistic understanding of alternative splicing-related cardiac diseases."],["dc.identifier.doi","10.1016/j.yjmcc.2017.09.008"],["dc.identifier.gro","3142517"],["dc.identifier.pmid","28941705"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/16493"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/13672"],["dc.identifier.url","https://sfb1002.med.uni-goettingen.de/production/literature/publications/191"],["dc.language.iso","en"],["dc.notes.intern","lifescience updates Crossref Import"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","final"],["dc.relation","SFB 1002: Modulatorische Einheiten bei Herzinsuffizienz"],["dc.relation","SFB 1002 | A08: Translationale und posttranslationale Kontrolle trunkierter Titinproteine in Kardiomyozyten von Patienten mit dilatativer Kardiomyopathie"],["dc.relation","SFB 1002 | C04: Fibroblasten-Kardiomyozyten Interaktion im gesunden und erkrankten Herzen: Mechanismen und therapeutische Interventionen bei Kardiofibroblastopathien"],["dc.relation","SFB 1002 | D01: Erholung aus der Herzinsuffizienz – Einfluss von Fibrose und Transkriptionssignatur"],["dc.relation.issn","0022-2828"],["dc.relation.workinggroup","RG Guan (Application of patient-specific induced pluripotent stem cells in disease modelling)"],["dc.relation.workinggroup","RG Hasenfuß (Transition zur Herzinsuffizienz)"],["dc.relation.workinggroup","RG Linke (Kardiovaskuläre Physiologie)"],["dc.relation.workinggroup","RG Sossalla (Kardiovaskuläre experimentelle Elektrophysiologie und Bildgebung)"],["dc.relation.workinggroup","RG Tiburcy (Stem Cell Disease Modeling)"],["dc.relation.workinggroup","RG Zimmermann (Engineered Human Myocardium)"],["dc.rights","CC BY-NC-ND 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by-nc-nd/4.0"],["dc.title","Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","no"],["dc.type.subtype","original_ja"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","13"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Basic Research in Cardiology"],["dc.bibliographiccitation.volume","117"],["dc.contributor.author","Haupt, Luis Peter"],["dc.contributor.author","Rebs, Sabine"],["dc.contributor.author","Maurer, Wiebke"],["dc.contributor.author","Hübscher, Daniela"],["dc.contributor.author","Tiburcy, Malte"],["dc.contributor.author","Pabel, Steffen"],["dc.contributor.author","Maus, Andreas"],["dc.contributor.author","Köhne, Steffen"],["dc.contributor.author","Tappu, Rewati"],["dc.contributor.author","Haas, Jan"],["dc.contributor.author","Streckfuss-Bömeke, Katrin"],["dc.date.accessioned","2022-04-01T10:01:09Z"],["dc.date.available","2022-04-01T10:01:09Z"],["dc.date.issued","2022"],["dc.description.abstract","Abstract Cancer therapies with anthracyclines have been shown to induce cardiovascular complications. The aims of this study were to establish an in vitro induced pluripotent stem cell model (iPSC) of anthracycline-induced cardiotoxicity (ACT) from patients with an aggressive form of B-cell lymphoma and to examine whether doxorubicin (DOX)-treated ACT-iPSC cardiomyocytes (CM) can recapitulate the clinical features exhibited by patients, and thus help uncover a DOX-dependent pathomechanism. ACT-iPSC CM generated from individuals with CD20 + B-cell lymphoma who had received high doses of DOX and suffered cardiac dysfunction were studied and compared to control-iPSC CM from cancer survivors without cardiac symptoms. In cellular studies, ACT-iPSC CM were persistently more susceptible to DOX toxicity including augmented disorganized myofilament structure, changed mitochondrial shape, and increased apoptotic events. Consistently, ACT-iPSC CM and cardiac fibroblasts isolated from fibrotic human ACT myocardium exhibited higher DOX-dependent reactive oxygen species. In functional studies, Ca 2+ transient amplitude of ACT-iPSC CM was reduced compared to control cells, and diastolic sarcoplasmic reticulum Ca 2+ leak was DOX-dependently increased. This could be explained by overactive CaMKIIδ in ACT CM. Together with DOX-dependent augmented proarrhythmic cellular triggers and prolonged action potentials in ACT CM, this suggests a cellular link to arrhythmogenic events and contractile dysfunction especially found in ACT engineered human myocardium. CamKIIδ inhibition prevented proarrhythmic triggers in ACT. In contrast, control CM upregulated SERCA2a expression in a DOX-dependent manner, possibly to avoid heart failure conditions. In conclusion, we developed the first human patient-specific stem cell model of DOX-induced cardiac dysfunction from patients with B-cell lymphoma. Our results suggest that DOX-induced stress resulted in arrhythmogenic events associated with contractile dysfunction and finally in heart failure after persistent stress activation in ACT patients."],["dc.identifier.doi","10.1007/s00395-022-00918-7"],["dc.identifier.pii","918"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/105613"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-530"],["dc.relation.eissn","1435-1803"],["dc.relation.issn","0300-8428"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Doxorubicin induces cardiotoxicity in a pluripotent stem cell model of aggressive B cell lymphoma cancer patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","S2666166721008236"],["dc.bibliographiccitation.firstpage","101117"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","STAR Protocols"],["dc.bibliographiccitation.volume","3"],["dc.contributor.author","Rebs, Sabine"],["dc.contributor.author","Buchwald, Tjark Alexander"],["dc.contributor.author","Streckfuss-Bömeke, Katrin"],["dc.date.accessioned","2022-04-01T10:02:33Z"],["dc.date.available","2022-04-01T10:02:33Z"],["dc.date.issued","2022"],["dc.identifier.doi","10.1016/j.xpro.2021.101117"],["dc.identifier.pii","S2666166721008236"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/105942"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-530"],["dc.relation.issn","2666-1667"],["dc.rights.uri","https://www.elsevier.com/tdm/userlicense/1.0/"],["dc.title","A quantitative RT-PCR protocol to adapt and quantify RBM20-dependent exon splicing of targets at the human locus"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","101746"],["dc.bibliographiccitation.journal","Stem Cell Research"],["dc.bibliographiccitation.volume","44"],["dc.contributor.author","Hübscher, Daniela"],["dc.contributor.author","Rebs, Sabine"],["dc.contributor.author","Maurer, Wiebke"],["dc.contributor.author","Ghadri, Jelena R."],["dc.contributor.author","Dressel, Ralf"],["dc.contributor.author","Templin, Christian"],["dc.contributor.author","Streckfuss-Bömeke, Katrin"],["dc.date.accessioned","2020-12-10T15:21:15Z"],["dc.date.available","2020-12-10T15:21:15Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1016/j.scr.2020.101746"],["dc.identifier.issn","1873-5061"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/72964"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Generation of iPSC-lines from two independent Takotsubo syndrome patients with recurrent Takotsubo events"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","136"],["dc.bibliographiccitation.journal","Journal of Molecular and Cellular Cardiology"],["dc.bibliographiccitation.lastpage","147"],["dc.bibliographiccitation.volume","164"],["dc.contributor.author","Emanuelli, Giulia"],["dc.contributor.author","Zoccarato, Anna"],["dc.contributor.author","Reumiller, Christina M."],["dc.contributor.author","Papadopoulos, Angelos"],["dc.contributor.author","Chong, Mei"],["dc.contributor.author","Rebs, Sabine"],["dc.contributor.author","Betteridge, Kai"],["dc.contributor.author","Beretta, Matteo"],["dc.contributor.author","Streckfuss-Bömeke, Katrin"],["dc.contributor.author","Shah, Ajay M."],["dc.date.accessioned","2022-06-01T09:39:03Z"],["dc.date.available","2022-06-01T09:39:03Z"],["dc.date.issued","2022"],["dc.identifier.doi","10.1016/j.yjmcc.2021.12.001"],["dc.identifier.pii","S0022282821002285"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/108375"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-572"],["dc.relation.issn","0022-2828"],["dc.rights.uri","https://www.elsevier.com/tdm/userlicense/1.0/"],["dc.title","A roadmap for the characterization of energy metabolism in human cardiomyocytes derived from induced pluripotent stem cells"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","101901"],["dc.bibliographiccitation.journal","Stem Cell Research"],["dc.bibliographiccitation.volume","47"],["dc.contributor.author","Rebs, Sabine"],["dc.contributor.author","Sedaghat-Hamedani, Farbod"],["dc.contributor.author","Kayvanpour, Elham"],["dc.contributor.author","Meder, Benjamin"],["dc.contributor.author","Streckfuss-Bömeke, Katrin"],["dc.date.accessioned","2021-04-14T08:24:33Z"],["dc.date.available","2021-04-14T08:24:33Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1016/j.scr.2020.101901"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/81329"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.relation.issn","1873-5061"],["dc.title","Generation of pluripotent stem cell lines and CRISPR/Cas9 modified isogenic controls from a patient with dilated cardiomyopathy harboring a RBM20 p.R634W mutation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","102263"],["dc.bibliographiccitation.journal","Stem Cell Research"],["dc.bibliographiccitation.volume","53"],["dc.contributor.author","Rebs, Sabine"],["dc.contributor.author","Beier, Jakob"],["dc.contributor.author","Argyriou, Loukas"],["dc.contributor.author","Schill, Tillmann"],["dc.contributor.author","Hasenfuß, Gerd"],["dc.contributor.author","Vollmann, Dirk"],["dc.contributor.author","Sossalla, Samuel"],["dc.contributor.author","Streckfuss-Bömeke, Katrin"],["dc.date.accessioned","2021-06-01T10:49:55Z"],["dc.date.available","2021-06-01T10:49:55Z"],["dc.date.issued","2021"],["dc.description.sponsorship","Open-Access-Publikationsfonds 2021"],["dc.identifier.doi","10.1016/j.scr.2021.102263"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/86461"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-425"],["dc.relation.issn","1873-5061"],["dc.rights","CC BY-NC-ND 4.0"],["dc.title","Generation and cardiac differentiation of an induced pluripotent stem cell line from a patient with arrhythmia-induced cardiomyopathy"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Basic Research in Cardiology"],["dc.bibliographiccitation.volume","117"],["dc.contributor.author","Kokot, Karoline E."],["dc.contributor.author","Kneuer, Jasmin M."],["dc.contributor.author","John, David"],["dc.contributor.author","Rebs, Sabine"],["dc.contributor.author","Möbius-Winkler, Maximilian N."],["dc.contributor.author","Erbe, Stephan"],["dc.contributor.author","Müller, Marion"],["dc.contributor.author","Andritschke, Michael"],["dc.contributor.author","Gaul, Susanne"],["dc.contributor.author","Sheikh, Bilal N."],["dc.contributor.author","Boeckel, Jes-Niels"],["dc.date.accessioned","2022-07-01T07:35:35Z"],["dc.date.available","2022-07-01T07:35:35Z"],["dc.date.issued","2022"],["dc.description.abstract","Abstract Alterations of RNA editing that affect the secondary structure of RNAs can cause human diseases. We therefore studied RNA editing in failing human hearts. Transcriptome sequencing showed that adenosine-to-inosine (A-to-I) RNA editing was responsible for 80% of the editing events in the myocardium. Failing human hearts were characterized by reduced RNA editing. This was primarily attributable to Alu elements in introns of protein-coding genes. In the failing left ventricle, 166 circRNAs were upregulated and 7 circRNAs were downregulated compared to non-failing controls. Most of the upregulated circRNAs were associated with reduced RNA editing in the host gene. ADAR2, which binds to RNA regions that are edited from A-to-I, was decreased in failing human hearts. In vitro , reduction of ADAR2 increased circRNA levels suggesting a causal effect of reduced ADAR2 levels on increased circRNAs in the failing human heart. To gain mechanistic insight, one of the identified upregulated circRNAs with a high reduction of editing in heart failure, AKAP13, was further characterized. ADAR2 reduced the formation of double-stranded structures in AKAP13 pre-mRNA, thereby reducing the stability of Alu elements and the circularization of the resulting circRNA. Overexpression of circAKAP13 impaired the sarcomere regularity of human induced pluripotent stem cell-derived cardiomyocytes. These data show that ADAR2 mediates A-to-I RNA editing in the human heart. A-to-I RNA editing represses the formation of dsRNA structures of Alu elements favoring canonical linear mRNA splicing and inhibiting the formation of circRNAs. The findings are relevant to diseases with reduced RNA editing and increased circRNA levels and provide insights into the human-specific regulation of circRNA formation."],["dc.description.sponsorship"," Deutsche Gesellschaft für Kardiologie-Herz und Kreislaufforschung. http://dx.doi.org/10.13039/501100010578"],["dc.description.sponsorship"," Deutsche Forschungsgemeinschaft http://dx.doi.org/10.13039/501100001659"],["dc.description.sponsorship"," Universität Leipzig 501100008678"],["dc.identifier.doi","10.1007/s00395-022-00940-9"],["dc.identifier.pii","940"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/112209"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-581"],["dc.relation.eissn","1435-1803"],["dc.relation.issn","0300-8428"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Reduction of A-to-I RNA editing in the failing human heart regulates formation of circular RNAs"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","12230"],["dc.bibliographiccitation.firstpage","12230"],["dc.bibliographiccitation.issue","20"],["dc.bibliographiccitation.journal","International Journal of Molecular Sciences"],["dc.bibliographiccitation.volume","23"],["dc.contributor.affiliation","Sedaghat-Hamedani, Farbod; 1Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany"],["dc.contributor.affiliation","Rebs, Sabine; 4Department of Cardiology and Pneumology, Georg-August-University Göttingen, 37073 Göttingen, Germany"],["dc.contributor.affiliation","Kayvanpour, Elham; 1Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany"],["dc.contributor.affiliation","Zhu, Chenchen; 7Department of Genetics, Stanford University, Stanford, CA 94305, USA"],["dc.contributor.affiliation","Amr, Ali; 1Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany"],["dc.contributor.affiliation","Müller, Marion; 1Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany"],["dc.contributor.affiliation","Haas, Jan; 1Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany"],["dc.contributor.affiliation","Wu, Jingyan; 7Department of Genetics, Stanford University, Stanford, CA 94305, USA"],["dc.contributor.affiliation","Steinmetz, Lars M.; 2DZHK (German Centre for Cardiovascular Research), Partner Site Heidelberg and Mannheim, 69120 Heidelberg, Germany"],["dc.contributor.affiliation","Ehlermann, Philipp; 1Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany"],["dc.contributor.affiliation","Streckfuss-Bömeke, Katrin; 4Department of Cardiology and Pneumology, Georg-August-University Göttingen, 37073 Göttingen, Germany"],["dc.contributor.affiliation","Frey, Norbert; 1Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany"],["dc.contributor.affiliation","Meder, Benjamin; 1Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany"],["dc.contributor.author","Sedaghat-Hamedani, Farbod"],["dc.contributor.author","Rebs, Sabine"],["dc.contributor.author","Kayvanpour, Elham"],["dc.contributor.author","Zhu, Chenchen"],["dc.contributor.author","Amr, Ali"],["dc.contributor.author","Müller, Marion"],["dc.contributor.author","Haas, Jan"],["dc.contributor.author","Wu, Jingyan"],["dc.contributor.author","Steinmetz, Lars M."],["dc.contributor.author","Ehlermann, Philipp"],["dc.contributor.author","Meder, Benjamin"],["dc.contributor.editor","Chandra Janga, Sarath"],["dc.date.accessioned","2022-12-01T08:31:40Z"],["dc.date.available","2022-12-01T08:31:40Z"],["dc.date.issued","2022"],["dc.date.updated","2022-11-11T13:12:19Z"],["dc.description.abstract","Dilated cardiomyopathy (DCM) is a common cause of heart failure (HF) and is of familial origin in 20–40% of cases. Genetic testing by next-generation sequencing (NGS) has yielded a definite diagnosis in many cases; however, some remain elusive. In this study, we used a combination of NGS, human-induced pluripotent-stem-cell-derived cardiomyocytes (iPSC-CMs) and nanopore long-read sequencing to identify the causal variant in a multi-generational pedigree of DCM. A four-generation family with familial DCM was investigated. Next-generation sequencing (NGS) was performed on 22 family members. Skin biopsies from two affected family members were used to generate iPSCs, which were then differentiated into iPSC-CMs. Short-read RNA sequencing was used for the evaluation of the target gene expression, and long-read RNA nanopore sequencing was used to evaluate the relevance of the splice variants. The pedigree suggested a highly penetrant, autosomal dominant mode of inheritance. The phenotype of the family was suggestive of laminopathy, but previous genetic testing using both Sanger and panel sequencing only yielded conflicting evidence for LMNA p.R644C (rs142000963), which was not fully segregated. By re-sequencing four additional affected family members, further non-coding LMNA variants could be detected: rs149339264, rs199686967, rs201379016, and rs794728589. To explore the roles of these variants, iPSC-CMs were generated. RNA sequencing showed the LMNA expression levels to be significantly lower in the iPSC-CMs of the LMNA variant carriers. We demonstrated a dysregulated sarcomeric structure and altered calcium homeostasis in the iPSC-CMs of the LMNA variant carriers. Using targeted nanopore long-read sequencing, we revealed the biological significance of the variant c.356+1G>A, which generates a novel 5′ splice site in exon 1 of the cardiac isomer of LMNA, causing a nonsense mRNA product with almost complete RNA decay and haploinsufficiency. Using novel molecular analysis and nanopore technology, we demonstrated the pathogenesis of the rs794728589 (c.356+1G>A) splice variant in LMNA. This study highlights the importance of precise diagnostics in the clinical management and workup of cardiomyopathies."],["dc.identifier.doi","10.3390/ijms232012230"],["dc.identifier.pii","ijms232012230"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/118233"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-621"],["dc.publisher","MDPI"],["dc.relation.eissn","1422-0067"],["dc.rights","Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/)."],["dc.title","Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1357"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","JACC: Clinical Electrophysiology"],["dc.bibliographiccitation.lastpage","1366"],["dc.bibliographiccitation.volume","8"],["dc.contributor.author","Körtl, Thomas"],["dc.contributor.author","Stehle, Thea"],["dc.contributor.author","Riedl, Dominic"],["dc.contributor.author","Trausel, Johanna"],["dc.contributor.author","Rebs, Sabine"],["dc.contributor.author","Pabel, Steffen"],["dc.contributor.author","Paulus, Michael"],["dc.contributor.author","Holzamer, Andreas"],["dc.contributor.author","Marrouche, Nassir"],["dc.contributor.author","Maier, Lars S."],["dc.contributor.author","Sossalla, Samuel"],["dc.date.accessioned","2022-12-01T08:30:38Z"],["dc.date.available","2022-12-01T08:30:38Z"],["dc.date.issued","2022"],["dc.identifier.doi","10.1016/j.jacep.2022.07.016"],["dc.identifier.pii","S2405500X22006466"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/117940"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-621"],["dc.relation.issn","2405-500X"],["dc.rights.uri","https://www.elsevier.com/tdm/userlicense/1.0/"],["dc.title","Atrial Fibrillation Burden Specifically Determines Human Ventricular Cellular Remodeling"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]