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Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant.

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Title: Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant.
Authors: Wong LY; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., Torfs T; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands., Vanherle SJV; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Janssen J; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Claes GRF; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands., Stroeks SLVM; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands., Willemars MMA; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands., Schianchi F; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., Kapsokalyvas D; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., Weltjens E; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Swinnen A; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Strzelecka A; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands., Heymans SRB; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands.; Centre of Cardiovascular Research, Centre for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium., Glatz J; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Broers J; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., Luiken JFP; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands., Hoes MF; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands., Verdonschot JAJ; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands. job.verdonschot@mumc.nl.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands. job.verdonschot@mumc.nl.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands. job.verdonschot@mumc.nl.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands. job.verdonschot@mumc.nl., Nabben M; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl.
Source: Scientific reports [Sci Rep] 2025 Jul 04; Vol. 15 (1), pp. 23842. Date of Electronic Publication: 2025 Jul 04.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant.
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  Data: <searchLink fieldCode="AU" term="%22Wong+LY%22">Wong LY</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Torfs+T%22">Torfs T</searchLink>; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Vanherle+SJV%22">Vanherle SJV</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Janssen+J%22">Janssen J</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Claes+GRF%22">Claes GRF</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Stroeks+SLVM%22">Stroeks SLVM</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Willemars+MMA%22">Willemars MMA</searchLink>; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Schianchi+F%22">Schianchi F</searchLink>; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kapsokalyvas+D%22">Kapsokalyvas D</searchLink>; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Weltjens+E%22">Weltjens E</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Swinnen+A%22">Swinnen A</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Strzelecka+A%22">Strzelecka A</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Krapels+IPC%22">Krapels IPC</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Heymans+SRB%22">Heymans SRB</searchLink>; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands.; Centre of Cardiovascular Research, Centre for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Glatz+J%22">Glatz J</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+den+Wijngaard+A%22">van den Wijngaard A</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Brunner+HG%22">Brunner HG</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Broers+J%22">Broers J</searchLink>; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Luiken+JFP%22">Luiken JFP</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoes+MF%22">Hoes MF</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Verdonschot+JAJ%22">Verdonschot JAJ</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands. job.verdonschot@mumc.nl.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands. job.verdonschot@mumc.nl.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands. job.verdonschot@mumc.nl.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands. job.verdonschot@mumc.nl.<br /><searchLink fieldCode="AU" term="%22Nabben+M%22">Nabben M</searchLink>; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl.; Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl.; Department of Cardiology, Maastricht University, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl.; CARIM Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, the Netherlands. m.nabben@maastrichtuniversity.nl.
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  Data: <searchLink fieldCode="JN" term="%22101563288%22">Scientific reports</searchLink> [Sci Rep] 2025 Jul 04; Vol. 15 (1), pp. 23842. <i>Date of Electronic Publication: </i>2025 Jul 04.
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