Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.

Autor: Saez-Atienzar S; Neuromuscular Diseases Research Section, National Institute on Aging, National Institutes of Health (NIH), Bethesda, MD 20892, USA; Department of Neurology, Ohio State University, Columbus, OH 43210, USA. Electronic address: sara.saezatienzar@osumc.edu., Souza CDS; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK., Chia R; Neuromuscular Diseases Research Section, National Institute on Aging, National Institutes of Health (NIH), Bethesda, MD 20892, USA., Beal SN; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK., Lorenzini I; Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ 85013, USA., Huang R; Division of Pre-clinical Innovation, National Center for Advancing Translational Sciences (NCATS), NIH, Rockville, MD 20850, USA., Levy J; Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ 85013, USA., Burciu C; Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ 85013, USA., Ding J; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA., Gibbs JR; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA., Jones A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Dewan R; Neuromuscular Diseases Research Section, National Institute on Aging, National Institutes of Health (NIH), Bethesda, MD 20892, USA., Pensato V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Peverelli S; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy., Corrado L; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., van Vugt JJFA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Rheenen W; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Tunca C; Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey., Bayraktar E; Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey., Xia M; Division of Pre-clinical Innovation, National Center for Advancing Translational Sciences (NCATS), NIH, Rockville, MD 20850, USA., Iacoangeli A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK; National Institute for Health Research Biomedical Research Centre and Dementia Unit, South London and Maudsley NHS Foundation Trust and King's College London, London, UK., Shatunov A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Tiloca C; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Verde F; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Mazzini L; Amyotrophic Lateral Sclerosis Center, Department of Neurology 'Maggiore della Carità' University Hospital, Novara, Italy., Kenna K; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Al Khleifat A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Opie-Martin S; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Raggi F; Department of Neurosciences, University of Padova, Padova, Italy., Filosto M; NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Piccinelli SC; NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Padovani A; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Gagliardi S; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy., Inghilleri M; Department of Human Neurosciences, Rare Neuromuscular Diseases Centre, Sapienza University, 00185 Rome, Italy; IRCCS Neuromed, Pozzilli, Italy., Ferlini A; Unit of Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy., Vasta R; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy., Calvo A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Moglia C; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Canosa A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy., Manera U; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy., Grassano M; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy., Mandrioli J; Department of Biomedical, Metabolic, and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, Modena, Italy., Mora G; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy., Lunetta C; Department of Neurorehabilitation, Istituti Clinici Scientifici Maugeri IRCCS, Institute of Milan, Milan, Italy; NEMO Clinical Center Milano, Fondazione Serena Onlus, Milan, Italy., Tanel R; Operative Unit of Neurology, S. Chiara Hospital, Trento, Italy., Trojsi F; Department of Advanced Medical and Surgical Sciences, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Cardinali P; Neurology Unit, AST Fermo, Marche, Italy., Gallone S; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy., Brunetti M; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy., Galimberti D; Neurodegenerative Diseases Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy; Department of Biomedical, Surgical, and Dental Sciences, University of Milan, Milan, Italy., Serpente M; Neurodegenerative Diseases Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Fenoglio C; Neurodegenerative Diseases Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy; Department of Biomedical, Surgical, and Dental Sciences, University of Milan, Milan, Italy., Scarpini E; Neurodegenerative Diseases Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Comi GP; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy; Neurology Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Corti S; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy; Neurology Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Del Bo R; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy; Neurology Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Ceroni M; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy., Pinter GL; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy., Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Bella ED; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy., Bersano E; 3rd Neurology Unit, Motor Neuron Diseases Center, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy; 'L. Sacco' Department of Biomedical and Clinical Sciences, Università degli Studi di Milano, Milan, Italy., Curtis CJ; Social Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London, UK; NIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust (SLaM), London, UK., Lee SH; Social Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London, UK; NIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust (SLaM), London, UK., Chung R; Social Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London, UK; NIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust (SLaM), London, UK., Patel H; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK; NIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust (SLaM), London, UK., Morrison KE; School of Medicine, Dentistry, and Biomedical Sciences, Faculty of Medicine Health and Life Sciences, Queen's University, Belfast, UK., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, and the NIHR Sheffield Biomedical Research Centre, Sheffield, UK., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, and the NIHR Sheffield Biomedical Research Centre, Sheffield, UK., Breen G; Social Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London, UK; NIHR BioResource Centre Maudsley, NIHR Maudsley Biomedical Research Centre (BRC) at South London and Maudsley NHS Foundation Trust (SLaM), London, UK., Dobson RJB; Department of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology, and Neuroscience (IoPPN), King's College London, London SE5 8AF, UK; NIHR Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London, London, UK; Health Data Research UK London, University College London, London, UK; Institute of Health Informatics, University College London, London, UK; NIHR Biomedical Research Centre at University College London Hospitals NHS Foundation Trust, London, UK., Dalgard CL; Department of Anatomy, Physiology, & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA; The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA., Scholz SW; Neurodegenerative Diseases Research Section, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD 21287, USA., Al-Chalabi A; Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK; Department of Clinical Neuroscience, King's College Hospital, London SE5 9RS, UK., van den Berg LH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., McLaughlin R; Complex Trait Genomics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland., Hardiman O; Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland; Department of Neurology, Beaumont Hospital, Dublin, Ireland., Cereda C; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy., Sorarù G; Department of Neurosciences, University of Padova, Padova, Italy., D'Alfonso S; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Chandran S; Euan MacDonald Centre for Motor Neurone Disease Research, Edinburgh, UK; UK Dementia Research Institute, University of Edinburgh, Edinburgh, UK., Pal S; Euan MacDonald Centre for Motor Neurone Disease Research, Edinburgh, UK; Centre for Neuroregeneration and Medical Research Council Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK., Ratti A; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Milan, Italy., Gellera C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Johnson K; Bioinformatics Section, Information Technology Program (ITP), Division of Intramural Research (DIR), National Institute of Neurological Disorders & Stroke, NIH, Bethesda, MD 20892, USA., Doucet-O'Hare T; Neuro-oncology Branch, Center for Cancer Research, National Cancer Institute (NCI), NIH, Bethesda, MD 20892, USA., Pasternack N; Translational Neuroscience Center, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD 20892, USA., Wang T; Translational Neuroscience Center, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD 20892, USA., Nath A; Translational Neuroscience Center, National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD 20892, USA., Siciliano G; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Silani V; Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan, Italy., Başak AN; Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey., Veldink JH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Camu W; ALS Center, CHU Gui de Chauliac, University of Montpellier, Montpellier, France., Glass JD; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Chiò A; 'Rita Levi Montalcini' Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Institute of Cognitive Sciences and Technologies, C.N.R., Rome, Italy., Sattler R; Department of Translational Neuroscience, Barrow Neurological Institute, Phoenix, AZ 85013, USA., Shaw CE; United Kingdom Dementia Research Institute, Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK; Centre for Brain Research, University of Auckland, Auckland, New Zealand., Ferraiuolo L; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK., Fogh I; United Kingdom Dementia Research Institute, Maurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK., Traynor BJ; Neuromuscular Diseases Research Section, National Institute on Aging, National Institutes of Health (NIH), Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD 21287, USA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK; National Institute of Neurological Disorders and Stroke (NINDS), NIH, Bethesda, MD 20892, USA; RNA Therapeutics Laboratory, National Center for Advancing Translational Sciences (NCATS), NIH, Rockville, MD 20850, USA. Electronic address: traynorb@mail.nih.gov.

Publikováno v: Cell genomics [Cell Genom] 2024 Oct 19, pp. 100679. Date of Electronic Publication: 2024 Oct 19.

predicTTE: An accessible and optimal tool for time-to-event prediction in neurological diseases.

Autor: Weinreich M; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK.; Department of Clinical Neurobiology at the German Cancer Research Center (DKFZ) and the Medical Faculty of the Heidelberg University, Heidelberg, Germany., McDonough H; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK., Yacovzada N; Department of Molecular Genetics and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel., Magen I; Department of Molecular Genetics and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel., Cohen Y; Department of Molecular Genetics and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel., Harvey C; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK., Gornall S; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK., Boddy S; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK., Alix J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK.; NIHR Sheffield Biomedical Research Centre, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK., Mohseni N; Department of Biology, Lund University, Sweden., Kurz JM; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK., Kenna KP; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Zhang S; Department of Epidemiology, University of Florida, Gainesville, FL, USA., Iacoangeli A; King's College London, Institute of Psychiatry, Psychology and Neuroscience, Department of Basic and Clinical Neuroscience, London, UK., Al-Khleifat A; King's College London, Institute of Psychiatry, Psychology and Neuroscience, Department of Basic and Clinical Neuroscience, London, UK., Snyder MP; Center for Genomics and Personalized Medicine, Stanford University School of Medicine, Stanford, CA, USA., Hobson E; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK., Al-Chalabi A; King's College London, Institute of Psychiatry, Psychology and Neuroscience, Department of Basic and Clinical Neuroscience, London, UK., Hornstein E; Department of Molecular Genetics and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel., Elhaik E; Department of Biology, Lund University, Sweden., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK.; NIHR Sheffield Biomedical Research Centre, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK., McDermott C; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK.; NIHR Sheffield Biomedical Research Centre, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, UK.; NIHR Sheffield Biomedical Research Centre, Royal Hallamshire Hospital, Glossop Road, Sheffield S10 2JF, UK.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jul 23. Date of Electronic Publication: 2024 Jul 23.

Deconvolution of polygenic risk score in single cells unravels cellular and molecular heterogeneity of complex human diseases.

Autor: Zhang S; Department of Epidemiology, University of Florida, Gainesville, FL, USA.; Departments of Biostatistics & Biomedical Engineering, Genetics Institute, McKnight Brain Institute, University of Florida, Gainesville, FL, USA.; Department of Genetics, Center for Genomics and Personalized Medicine, Stanford University School of Medicine, Stanford, CA, USA.; These authors contributed equally: Sai Zhang, Hantao Shu, and Jingtian Zhou., Shu H; Institute for Interdisciplinary Information Sciences, Tsinghua University, Beijing, China.; These authors contributed equally: Sai Zhang, Hantao Shu, and Jingtian Zhou., Zhou J; Arc Institute, Palo Alto, CA, USA.; Genomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, CA, USA.; Bioinformatics and Systems Biology Program, University of California San Diego, La Jolla, CA, USA.; These authors contributed equally: Sai Zhang, Hantao Shu, and Jingtian Zhou., Rubin-Sigler J; Department of Stem Cell Biology and Regenerative Medicine, Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA., Yang X; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Liu Y; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Cooper-Knock J; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK., Monte E; Department of Genetics, Center for Genomics and Personalized Medicine, Stanford University School of Medicine, Stanford, CA, USA., Zhu C; Department of Genetics, Center for Genomics and Personalized Medicine, Stanford University School of Medicine, Stanford, CA, USA., Tu S; Department of Stem Cell Biology and Regenerative Medicine, Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA., Li H; Institute for Interdisciplinary Information Sciences, Tsinghua University, Beijing, China., Tong M; Department of Genetics, Center for Genomics and Personalized Medicine, Stanford University School of Medicine, Stanford, CA, USA., Ecker JR; Genomic Analysis Laboratory, The Salk Institute for Biological Studies, La Jolla, CA, USA.; Howard Hughes Medical Institute, The Salk Institute for Biological Studies, La Jolla, CA, USA., Ichida JK; Department of Stem Cell Biology and Regenerative Medicine, Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA., Shen Y; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA., Zeng J; School of Engineering, Research Center for Industries of the Future, Westlake University, Hangzhou, Zhejiang, China., Tsao PS; VA Palo Alto Healthcare System, Palo Alto, CA, USA.; Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA., Snyder MP; Department of Genetics, Center for Genomics and Personalized Medicine, Stanford University School of Medicine, Stanford, CA, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 May 14. Date of Electronic Publication: 2024 May 14.

Mendelian Randomization Study With Clinical Follow-Up Links Metabolites to Risk and Severity of Pulmonary Arterial Hypertension.

Autor: Alhathli E; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield Sheffield UK.; Department of Nursing, Faculty of Applied Medical Sciences Taif University Taif Saudi Arabia., Julian T; Division of Evolution, Infection and Genomics, School of Biological Sciences The University of Manchester Manchester UK., Girach ZUA; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield Sheffield UK., Thompson AAR; Department of Infection, Immunity and Cardiovascular Disease University of Sheffield Sheffield UK., Rhodes C; National Heart and Lung Institute, Imperial College London London UK., Gräf S; Department of Respiratory Medicine University of Cambridge Cambridge UK., Errington N; National Heart and Lung Institute, Imperial College London London UK., Wilkins MR; National Heart and Lung Institute, Imperial College London London UK., Lawrie A; National Heart and Lung Institute, Imperial College London London UK., Wang D; Department of Computer Science University of Sheffield Sheffield UK.; National Heart and Lung Institute, Imperial College London London UK.; Singapore Institute for Clinical Sciences, Agency for Science, Technology and Research (A*STAR) Singapore Republic of Singapore., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield Sheffield UK.

Publikováno v: Journal of the American Heart Association [J Am Heart Assoc] 2024 Mar 19; Vol. 13 (6), pp. e032256. Date of Electronic Publication: 2024 Mar 08.

Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis.

Autor: Harvey C; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Weinreich M; Clinical Neurobiology, German Cancer Research Center and University Hospital Heidelberg, Germany., Lee JAK; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Shaw AC; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Ferraiuolo L; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Mortiboys H; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Zhang S; Department of Epidemiology, University of Florida, Gainesville, FL, USA., Hop PJ; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Zwamborn RAJ; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., van Eijk K; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Julian TH; Division of Evolution, Infection and Genomics, School of Biological Sciences, The University of Manchester, Manchester, UK., Moll T; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Iacoangeli A; King's College London, Institute of Psychiatry, Psychology and Neuroscience, Department of Basic and Clinical Neuroscience, London, UK., Al Khleifat A; King's College London, Institute of Psychiatry, Psychology and Neuroscience, Department of Basic and Clinical Neuroscience, London, UK., Quinn JP; Department of Pharmacology and Therapeutics, Institute of Systems, Molecular & Integrative Biology, Liverpool, UK., Pfaff AL; Perron Institute for Neurological and Translational Science, Perth, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, Australia., Kõks S; Perron Institute for Neurological and Translational Science, Perth, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Perth, Australia., Poulton J; Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK., Battle SL; McKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Arking DE; McKusick-Nathans Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Snyder MP; Center for Genomics and Personalized Medicine, Stanford University School of Medicine, Stanford, CA, USA., Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Kenna KP; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Shaw PJ; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Cooper-Knock J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.

Publikováno v: Heliyon [Heliyon] 2024 Jan 24; Vol. 10 (3), pp. e24975. Date of Electronic Publication: 2024 Jan 24 (Print Publication: 2024).