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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

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Title: Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Authors: Lessel D; 1] Institute of Human Genetics, University of Ulm, Ulm, Germany. [2] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Vaz B; Cancer Research UK and Medical Research Council Oxford Institute for Radiation Oncology, Department of Oncology, University of Oxford, Oxford, UK., Halder S; 1] Cancer Research UK and Medical Research Council Oxford Institute for Radiation Oncology, Department of Oncology, University of Oxford, Oxford, UK. [2] Institute of Pharmacology and Toxicology, University of Zürich-Vetsuisse, Zürich, Switzerland., Lockhart PJ; 1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia. [2] Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia., Marinovic-Terzic I; Department of Immunology and Medical Genetics, University of Split, School of Medicine, Split, Croatia., Lopez-Mosqueda J; 1] Buchmann Institute for Molecular Life Sciences, Goethe University, Frankfurt (Main), Germany. [2] Institute of Biochemistry II, Goethe University School of Medicine, Frankfurt (Main), Germany., Philipp M; Department of Biochemistry and Molecular Biology, University of Ulm, Ulm, Germany., Sim JC; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Smith KR; 1] Bioinformatics Division, The Walter and Eliza Hall Institute, Parkville, Victoria, Australia. [2] Department of Medical Biology, The University of Melbourne, Parkville, Victoria, Australia., Oehler J; 1] Cancer Research UK and Medical Research Council Oxford Institute for Radiation Oncology, Department of Oncology, University of Oxford, Oxford, UK. [2] Institute of Pharmacology and Toxicology, University of Zürich-Vetsuisse, Zürich, Switzerland., Cabrera E; Unidad de Investigación, Hospital Universitario de Canarias, Instituto de Tecnologías Biomédicas, La Laguna, Tenerife, Spain., Freire R; Unidad de Investigación, Hospital Universitario de Canarias, Instituto de Tecnologías Biomédicas, La Laguna, Tenerife, Spain., Pope K; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Nahid A; Bioinformatics Division, The Walter and Eliza Hall Institute, Parkville, Victoria, Australia., Norris F; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Leventer RJ; 1] Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia. [2] Neuroscience Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. [3] Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia., Delatycki MB; 1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia. [2] Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia. [3] Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia., Barbi G; Institute of Human Genetics, University of Ulm, Ulm, Germany., von Ameln S; Institute of Human Genetics, University of Ulm, Ulm, Germany., Högel J; Institute of Human Genetics, University of Ulm, Ulm, Germany., Degoricija M; Department of Immunology and Medical Genetics, University of Split, School of Medicine, Split, Croatia., Fertig R; Institute of Pharmacology and Toxicology, University of Zürich-Vetsuisse, Zürich, Switzerland., Burkhalter MD; Leibniz Institute for Age Research, Fritz Lippmann Institute, Jena, Germany., Hofmann K; Institute of Genetics, University of Cologne, Cologne, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Nürnberg G; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Nürnberg P; 1] Cologne Center for Genomics, University of Cologne, Cologne, Germany. [2] Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany. [3] Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany., Bahlo M; 1] Bioinformatics Division, The Walter and Eliza Hall Institute, Parkville, Victoria, Australia. [2] Department of Mathematics and Statistics, The University of Melbourne, Parkville, Victoria, Australia., Martin GM; Department of Pathology, University of Washington, Seattle, Washington, USA., Aalfs CM; Department of Clinical Genetics, Amsterdam Medical Centre, Amsterdam, the Netherlands., Oshima J; Department of Pathology, University of Washington, Seattle, Washington, USA., Terzic J; Department of Immunology and Medical Genetics, University of Split, School of Medicine, Split, Croatia., Amor DJ; 1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia. [2] Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia., Dikic I; 1] Buchmann Institute for Molecular Life Sciences, Goethe University, Frankfurt (Main), Germany. [2] Institute of Biochemistry II, Goethe University School of Medicine, Frankfurt (Main), Germany., Ramadan K; 1] Cancer Research UK and Medical Research Council Oxford Institute for Radiation Oncology, Department of Oncology, University of Oxford, Oxford, UK. [2] Institute of Pharmacology and Toxicology, University of Zürich-Vetsuisse, Zürich, Switzerland., Kubisch C; 1] Institute of Human Genetics, University of Ulm, Ulm, Germany. [2] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Source: Nature genetics [Nat Genet] 2014 Nov; Vol. 46 (11), pp. 1239-44. Date of Electronic Publication: 2014 Sep 28.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
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  Data: Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
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  Data: <searchLink fieldCode="AU" term="%22Lessel+D%22">Lessel D</searchLink>; 1] Institute of Human Genetics, University of Ulm, Ulm, Germany. [2] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.<br /><searchLink fieldCode="AU" term="%22Vaz+B%22">Vaz B</searchLink>; Cancer Research UK and Medical Research Council Oxford Institute for Radiation Oncology, Department of Oncology, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Halder+S%22">Halder S</searchLink>; 1] Cancer Research UK and Medical Research Council Oxford Institute for Radiation Oncology, Department of Oncology, University of Oxford, Oxford, UK. [2] Institute of Pharmacology and Toxicology, University of Zürich-Vetsuisse, Zürich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Lockhart+PJ%22">Lockhart PJ</searchLink>; 1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia. 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[2] Neuroscience Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. [3] Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Delatycki+MB%22">Delatycki MB</searchLink>; 1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia. [2] Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia. [3] Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Barbi+G%22">Barbi G</searchLink>; Institute of Human Genetics, University of Ulm, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22von+Ameln+S%22">von Ameln S</searchLink>; Institute of Human Genetics, University of Ulm, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Högel+J%22">Högel J</searchLink>; Institute of Human Genetics, University of Ulm, Ulm, Germany.<br /><searchLink fieldCode="AU" term="%22Degoricija+M%22">Degoricija M</searchLink>; Department of Immunology and Medical Genetics, University of Split, School of Medicine, Split, Croatia.<br /><searchLink fieldCode="AU" term="%22Fertig+R%22">Fertig R</searchLink>; Institute of Pharmacology and Toxicology, University of Zürich-Vetsuisse, Zürich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Burkhalter+MD%22">Burkhalter MD</searchLink>; Leibniz Institute for Age Research, Fritz Lippmann Institute, Jena, Germany.<br /><searchLink fieldCode="AU" term="%22Hofmann+K%22">Hofmann K</searchLink>; Institute of Genetics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Thiele+H%22">Thiele H</searchLink>; Cologne Center for Genomics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Altmüller+J%22">Altmüller J</searchLink>; Cologne Center for Genomics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Nürnberg+G%22">Nürnberg G</searchLink>; Cologne Center for Genomics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Nürnberg+P%22">Nürnberg P</searchLink>; 1] Cologne Center for Genomics, University of Cologne, Cologne, Germany. 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