Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.

Autor: Vidali S; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria., Gerlini R; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Thompson K; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Urquhart JE; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Meisterknecht J; Functional Proteomics, Institute for Cardiovascular Physiology, Faculty of Medicine, Goethe University Frankfurt, Frankfurt, Germany., Aguilar-Pimentel JA; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Amarie OV; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Becker L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Breen C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Calzada-Wack J; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Chhabra NF; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Cho YL; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., da Silva-Buttkus P; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Feichtinger RG; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria., Gampe K; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Garrett L; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Hoefig KP; Research Unit Molecular Immune Regulation, Helmholtz Zentrum München, German Research Center for Environmental Health, Munich, Germany., Hölter SM; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Chair of Developmental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany., Jameson E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Klein-Rodewald T; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Leuchtenberger S; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Marschall S; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Mayer-Kuckuk P; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Miller G; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Oestereicher MA; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Pfannes K; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Rathkolb B; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Institute of Molecular Animal Breeding and Biotechnology, Ludwig-Maximilians University Munich, Munich, Germany., Rozman J; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Sanders C; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Spielmann N; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Stoeger C; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Szibor M; Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.; Department of Cardiothoracic Surgery, Jena University Hospital, Jena, Germany., Treise I; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Walter JH; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Wurst W; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Chair of Developmental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany.; Deutsches Institut für Neurodegenerative Erkrankungen (DZNE) Site Munich, Munich, Germany., Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University Salzburg, Salzburg, Austria., Fuchs H; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Gärtner U; Institute for Anatomy and Cell Biology, Justus-Liebig-University of Giessen, Giessen, Germany., Wittig I; Functional Proteomics, Institute for Cardiovascular Physiology, Faculty of Medicine, Goethe University Frankfurt, Frankfurt, Germany.; German Center for Cardiovascular Research (DZHK), Partner site RheinMain, Frankfurt, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Newman WG; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK., Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Gailus-Durner V; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Hrabě de Angelis M; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany.

Publikováno v: EMBO molecular medicine [EMBO Mol Med] 2021 Dec 07; Vol. 13 (12), pp. e14397. Date of Electronic Publication: 2021 Nov 08.

PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance.

Autor: Chhabra NF; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Amarie OV; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany., Wu M; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Amend AL; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Rubey M; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Gradinger D; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Irmler M; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany., Beckers J; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Chair of Experimental Genetics, Center of Life and Food Sciences, Weihenstephan, Technische Universität München, Freising, Germany., Rathkolb B; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Ludwig-Maximilians-Universität München, Gene Center, Chair for Molecular Animal Breeding and Biotechnology, Munich, Germany., Wolf E; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Ludwig-Maximilians-Universität München, Gene Center, Chair for Molecular Animal Breeding and Biotechnology, Munich, Germany., Feuchtinger A; Helmholtz Zentrum München, Research Unit Analytical Pathology, Neuherberg, Germany., Huypens P; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Teperino R; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Rozman J; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Przemeck GKH; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Hrabě de Angelis M; Helmholtz Zentrum München, Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany. hrabe@helmholtz-muenchen.de.; German Center for Diabetes Research (DZD), Neuherberg, Germany. hrabe@helmholtz-muenchen.de.; Chair of Experimental Genetics, Center of Life and Food Sciences, Weihenstephan, Technische Universität München, Freising, Germany. hrabe@helmholtz-muenchen.de.

Publikováno v: Communications biology [Commun Biol] 2020 Oct 30; Vol. 3 (1), pp. 628. Date of Electronic Publication: 2020 Oct 30.

TNF and regulatory T cells are critical for sepsis-induced suppression of T cells.

Autor: Stieglitz D; Institute of Immunology University of Regensburg Regensburg Germany., Schmid T; Institute of Immunology University of Regensburg Regensburg Germany., Chhabra NF; Institute of Immunology University of Regensburg Regensburg Germany., Echtenacher B; Institute of Immunology University of Regensburg Regensburg Germany., Männel DN; Institute of Immunology University of Regensburg Regensburg Germany., Mostböck S; Institute of Immunology University of Regensburg Regensburg Germany.

Publikováno v: Immunity, inflammation and disease [Immun Inflamm Dis] 2015 Aug 04; Vol. 3 (4), pp. 374-85. Date of Electronic Publication: 2015 Aug 04 (Print Publication: 2015).