Reply to "letter to the editor: Defining the cardiovascular phenotype of adults with Alström syndrome".

Autor: Roy A; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK. Electronic address: ashwinroy@nhs.net., Patel L; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK., Yuan M; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK., O'Shea C; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK., Alvior AMB; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK., Charalambides M; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Moxon D; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Baig S; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK; Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, UK., Bunting KV; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK., Gehmlich K; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford, Oxford, UK., Geberhiwot T; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, UK., Steeds RP; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK.

Publikováno v: International journal of cardiology [Int J Cardiol] 2024 Nov 01; Vol. 414, pp. 132437. Date of Electronic Publication: 2024 Aug 08.

Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse.

Autor: Sommerfeld LC; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.; University Center of Cardiovascular Science, University Heart and Vascular Center, UKE Hamburg, Hamburg, Germany.; German Center for Cardiovascular Research (DZHK), Standort Hamburg/Kiel/Lübeck, Germany., Holmes AP; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.; School of Biomedical Sciences, Institute of Clinical Sciences, University of Birmingham, Birmingham, UK., Yu TY; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.; Research and Training Centre in Physical Sciences for Health, Birmingham, UK., O'Shea C; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.; Research and Training Centre in Physical Sciences for Health, Birmingham, UK., Kavanagh DM; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.; Centre of Membrane Proteins and Receptors (COMPARE), University of Birmingham, Birmingham, UK., Pike JM; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.; Centre of Membrane Proteins and Receptors (COMPARE), University of Birmingham, Birmingham, UK., Wright T; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK., Syeda F; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK., Aljehani A; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK., Kew T; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK., Cardoso VR; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Kabir SN; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK., Hepburn C; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK., Menon PR; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK., Broadway-Stringer S; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK., O'Reilly M; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK., Witten A; Genetic Epidemiology, Institute for Human Genetics, University of Münster, Münster, Germany.; Core Facility Genomics of the Medical Faculty, University of Münster, Münster, Germany., Fortmueller L; University Center of Cardiovascular Science, University Heart and Vascular Center, UKE Hamburg, Hamburg, Germany.; German Center for Cardiovascular Research (DZHK), Standort Hamburg/Kiel/Lübeck, Germany.; Genetic Epidemiology, Institute for Human Genetics, University of Münster, Münster, Germany., Lutz S; Institute of Pharmacology and Toxicology, University Medical Center Göttingen, Göttingen, Germany., Kulle A; Division of Paediatric Endocrinology and Diabetes, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Gkoutos GV; University Center of Cardiovascular Science, University Heart and Vascular Center, UKE Hamburg, Hamburg, Germany.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Institute of Translational Medicine, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.; MRC Health Data Research UK (HDR), Midlands Site, UK., Pavlovic D; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK., Arlt W; Institute of Metabolism and Systems Research (IMSR), University of Birmingham, Birmingham, UK.; Centre for Endocrinology, Diabetes and Metabolism (CEDAM), Birmingham Health Partners, Birmingham, UK.; Medical Research Council London Institute of Medical Sciences, London UK & Institute of Clinical Sciences, Faculty of Medicine, Imperial College, London, UK., Lavery GG; Institute of Metabolism and Systems Research (IMSR), University of Birmingham, Birmingham, UK.; Centre for Endocrinology, Diabetes and Metabolism (CEDAM), Birmingham Health Partners, Birmingham, UK., Steeds R; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.; Department of Cardiology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK., Gehmlich K; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK., Stoll M; Genetic Epidemiology, Institute for Human Genetics, University of Münster, Münster, Germany.; Core Facility Genomics of the Medical Faculty, University of Münster, Münster, Germany.; Cardiovascular Research Institute Maastricht, Department of Biochemistry, Maastricht University, Maastricht, The Netherlands., Kirchhof P; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.; German Center for Cardiovascular Research (DZHK), Standort Hamburg/Kiel/Lübeck, Germany.; Department of Cardiology, University Heart & Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Fabritz L; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.; University Center of Cardiovascular Science, University Heart and Vascular Center, UKE Hamburg, Hamburg, Germany.; German Center for Cardiovascular Research (DZHK), Standort Hamburg/Kiel/Lübeck, Germany.; Department of Cardiology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.; Department of Cardiology, University Heart & Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Publikováno v: The Journal of physiology [J Physiol] 2024 Sep; Vol. 602 (18), pp. 4409-4436. Date of Electronic Publication: 2024 Feb 12.

PITX2 deficiency leads to atrial mitochondrial dysfunction.

Autor: Reyat JS; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK.; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK., Sommerfeld LC; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK.; Department of Cardiology, University Heart and Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany.; DZHK (German Center for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, University Medical Center Hamburg-Eppendorf, Germany.; University Center of Cardiovascular Sciences, University Medical Center Hamburg-Eppendorf, Germany., O'Reilly M; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK., Cardoso VR; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK.; Institute of Cancer Genomics, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., Thiemann E; Department of Cardiology, University Heart and Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany.; DZHK (German Center for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, University Medical Center Hamburg-Eppendorf, Germany.; Institute of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany., Khan AO; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK., O'Shea C; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK., Harder S; Institut für Klinische Chemie und Laboratoriumsmedizin, Massenspektrometrische Proteomanalytik, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany., Müller C; UKE Bioinformatics Core; University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany., Barlow J; Cellular Health and Metabolism Facility, College of Life and Environmental Sciences, University of Birmingham, Birmingham, UK., Stapley RJ; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK., Chua W; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK., Kabir SN; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK., Grech O; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK., Hummel O; Max Delbrück Centrum for Molecular Medicine, Berlin, Germany, Charite - Universitätsmedizin Berlin, German, and German Center for Cardiovascular Research (DZHK), partner site Berlin., Hübner N; Charite - Universitätsmedizin Berlin, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Berlin, Germany., Kääb S; Department of Medicine I, University Hospital Munich, Ludwig Maximilian University of Munich (LMU), Munich, Germany.; German Centre for Cardiovascular Research (DZHK), partner site Munich Heart Alliance, Munich, Germany., Mont L; Hospital Clínic, Universitat de Barcelona, Catalonia, Spain and Institut de Recerca Biomèdica, August Pi- i Sunyer, Barcelona, Catalonia, Spain.; Centro Investigación Biomedica en Red Cardiovascular, Madrid, Spain., Hatem SN; INSERM UMRS1166, ICAN - Institute of Cardiometabolism and Nutrition, Sorbonne University, Institute of Cardiology, Pitié-Salpêtrière Hospital, Paris, France., Winters J; Cardiovascular Research Institute Maastricht, Department of Physiology, Maastricht University, Maastricht, The Netherlands., Zeemering S; Cardiovascular Research Institute Maastricht, Department of Physiology, Maastricht University, Maastricht, The Netherlands., Morgan NV; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK., Rayes J; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK., Gehmlich K; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK., Stoll M; Institute of Human Genetics, Genetic Epidemiology, WWU Münster, Germany.; Cardiovascular Research Institute Maastricht, Genetic Epidemiology and Statistical Genetics, Maastricht University, Maastricht, Netherlands., Brand T; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany., Schweizer M; Department of Morphology and Electron Microscopy, Center for Molecular Neurobiology, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany., Piasecki A; Institute of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany., Schotten U; Cardiovascular Research Institute Maastricht, Department of Physiology, Maastricht University, Maastricht, The Netherlands., Gkoutos GV; Institute of Cancer Genomics, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., Lorenz K; Institute of Pharmacology and Toxicology, University of Würzburg, Würzburg, Germany.; Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., Dortmund, Germany., Cuello F; DZHK (German Center for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, University Medical Center Hamburg-Eppendorf, Germany.; Institute of Experimental Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany., Kirchhof P; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK.; Department of Cardiology, University Heart and Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany.; DZHK (German Center for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, University Medical Center Hamburg-Eppendorf, Germany., Fabritz L; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Wolfson Drive, Birmingham, UK.; Department of Cardiology, University Heart and Vascular Center Hamburg, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany.; DZHK (German Center for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, University Medical Center Hamburg-Eppendorf, Germany.; University Center of Cardiovascular Sciences, University Medical Center Hamburg-Eppendorf, Germany.

Publikováno v: Cardiovascular research [Cardiovasc Res] 2024 Aug 12. Date of Electronic Publication: 2024 Aug 12.

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy.

Autor: McKay EJ; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK., Luijten I; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK., Broadway-Stringer S; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham B15 2TT, UK., Thomson A; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK., Weng X; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK., Gehmlich K; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham B15 2TT, UK.; Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford, Oxford OX3 9DU, UK., Gray GA; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK., Semple RK; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.

Publikováno v: Disease models & mechanisms [Dis Model Mech] 2024 Jun 01; Vol. 17 (6). Date of Electronic Publication: 2024 Jun 28.

Exploring Syndecan-4 and MLP and Their Interaction in Primary Cardiomyocytes and H9c2 Cells.

Autor: Støle TP; Institute for Experimental Medical Research, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway., Lunde M; Institute for Experimental Medical Research, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; K.G. Jebsen Center for Cardiac Research, University of Oslo, 0313 Oslo, Norway., Gehmlich K; Institute for Cardiovascular Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.; Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford, Oxford OX3 9DU, UK., Christensen G; Institute for Experimental Medical Research, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; K.G. Jebsen Center for Cardiac Research, University of Oslo, 0313 Oslo, Norway., Louch WE; Institute for Experimental Medical Research, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.; K.G. Jebsen Center for Cardiac Research, University of Oslo, 0313 Oslo, Norway., Carlson CR; Institute for Experimental Medical Research, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.

Publikováno v: Cells [Cells] 2024 May 30; Vol. 13 (11). Date of Electronic Publication: 2024 May 30.