Department of Neuromuscular Research, National Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, 4-1-1 Ogawahigashi, Tokyo 187-8502, Japan; Medical Genome Center, NCNP, Tokyo, Kodaira, Japan. Electronic address: nishino@ncnp.go.jp.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 187-8502 Tokyo, Japan; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, 187-8551 Tokyo, Japan.
From the Department of Learning, Informatics and Medical Education, Karolinska Institutet; Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital, Department of Neurobiology, Care Science and Society, Division of Physiotherapy and Department of Medicine, Karolinska Institutet; Division of Rheumatology, Rheumatology Unit, Department of Medicine, Karolinska Institutet, Solna, Sweden; Division of Rheumatology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA; Division of Rheumatology, Department of Internal Medicine, Medical Research Center, College of Medicine, Department of Molecular Medicine and Biopharmaceutical Sciences, Seoul National University, Seoul, Korea; Division of Rheumatology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, Perth; The Notre Dame University Fremantle, Fremantle, Australia; Amsterdam UMC, University of Amsterdam, Department of Neurology, Amsterdam Neuroscience, Amsterdam, the Netherlands; Center for Global Health, University of Ottawa, Ottawa, Ontario, Canada.
M. Regardt, PhD, Occupational Therapist, Department of Learning, Informatics and Medical Education, Karolinska Institutet, and Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital; C.A. Mecoli, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; J.K. Park, MD, PhD, Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital; I. de Groot, Patient Research Partner; C. Sarver, Patient Research Partner; M. Needham, MD, Division of Rheumatology, Fiona Stanley Hospital, Institute for Immunology and Infectious Diseases, Murdoch University, and The Notre Dame University; M. de Visser, MD, PhD, Amsterdam UMC, University of Amsterdam, Department of Neurology, Amsterdam Neuroscience; B. Shea, MSN, Center for Global Health, University of Ottawa; C.O. Bingham III, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; I.E. Lundberg, MD, PhD, Division of Rheumatology, Rheumatology Unit, Department of Medicine, Karolinska Institutet; Y.W. Song, MD, PhD, Division of Rheumatology, Department of Internal Medicine, Medical Research Center, College of Medicine, Department of Molecular Medicine and Biopharmaceutical Sciences, Seoul National University; L. Christopher-Stine, MD, Division of Rheumatology, Department of Medicine, Johns Hopkins University; H. Alexanderson, PhD, Physiotherapist, Department of Neurobiology, Care Science and Society, Division of Physiotherapy and Department of Medicine Solna, Karolinska Institutet, and Function Area Occupational Therapy and Physical Therapy, Allied Health Professionals Function, Karolinska University Hospital. M. Regardt and Dr. C. Mecoli are co-first authors.
Department of Neuromuscular Research, National Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, 4-1-1 Ogawahigashi, Tokyo 187-8502, Japan; Medical Genome Center, NCNP, Tokyo, Kodaira, Japan; Department of Pediatrics, Showa General Hospital, Tokyo, Kodaira, Japan.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France.
INSERM, GIN-U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, University Grenoble Alpes, Bat EJ Safra, Chemin Fortuné Ferrini, La Tronche, Grenoble, France. isabelle.marty@univ-grenoble-alpes.fr.
Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France. matteo.garibaldi@uniroma1.it.
Unit of Neuromuscular Diseases, Neuromuscular Disease Centre, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, SAPIENZA University of Rome, Sant'Andrea Hospital, Via di Grottarossa 1035-1039, 00189, Rome, Italy. matteo.garibaldi@uniroma1.it.
Service Neurologie Médicale, Centre de Référence Maladies Neuromusculaire Paris-Est-Ile de France, CHU Raymond-Poincaré Paris Ouest, Garches, France.
U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR des sciences de la santé Simone Veil, Université Versailles-Saint-Quentin-en-Yvelines, Versailles, France.
Unit of Neuromuscular Diseases, Neuromuscular Disease Centre, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, SAPIENZA University of Rome, Sant'Andrea Hospital, Via di Grottarossa 1035-1039, 00189, Rome, Italy.
Skeletal muscle development and regeneration is governed by the combined action of Myf5, MyoD, Mrf4 and MyoG, also known as the myogenic regulatory factors (MRFs). These transcription factors are expr...
Regulation of gene expression takes a central place in normal cells to maintain tissue homeostasis but also in cancer cells to respond to intra- and extra-cellular stimuli, such as therapeutic drugs [...
Gene-expression regulation involves multiple processes and a range of regulatory factors. In this review, we describe the key factors that regulate gene expression, including transcription factors (TF...
Viruses have evolved a multitude of mechanisms to combat barriers to productive infection in the host cell. Virally-encoded miRNAs are one such means to regulate host gene expression in ways that bene...
Cellular functions are regulated by signal transduction pathway networks consisting of protein-modifying enzymes that control the activity of many downstream proteins. Protein kinases and phosphatases...
Variation in DNA methylation (DNAm) in adipose tissue is associated with the pathogenesis of obesity and insulin resistance. The activity of enzymes involved in altering DNAm levels is dependent on se...
To understand the role of metabolites as mechanistic regulators of epigenetic marks, we tested the association between selected plasma metabolites and DNAm levels in the adipose tissue of African Amer...
In the AAGMEx cohort (N = 256), plasma levels of metabolites were measured by untargeted liquid chromatography-mass spectrometry; adipose tissue DNAm and transcript levels were measured by reduced rep...
Among the 21 one-carbon metabolism pathway metabolites evaluated, six were associated with gluco-metabolic traits (P...
Our study suggests that a subset of metabolites modulates the methylation levels of CpG sites in specific loci and, in turn, regulates the expression of transcripts involved in obesity and insulin res...
Coronary artery disease (CAD) is the leading cause of death worldwide. Recent meta-analyses of genome-wide association studies have identified over 175 loci associated with CAD. The majority of these ...
We measured gene expression in SMCs isolated from the ascending aortas of 151 heart transplant donors of various genetic ancestries in quiescent or proliferative conditions and calculated the associat...
We identified 4910 expression and 4412 splicing quantitative trait loci (sQTLs) representing regions of the genome associated with transcript abundance and splicing. A total of 3660 expression quantit...
Collectively, our results provide evidence for the molecular mechanisms of genetic susceptibility to CAD in distinct SMC phenotypes....
Cell type- and differentiation-specific gene expression is precisely controlled by genomic non-coding regulatory elements (NCREs), which include promoters, enhancers, silencers and insulators. It is e...
Although gene-expression (GE) and protein levels are typically strongly genetically regulated, their correlation is known to be low. Here we investigate this phenomenon by focusing on the genetic back...
We performed locus-wide association studies of 92 protein levels measured in whole blood for 2,014 samples of European ancestry and found that 66 are genetically regulated. Three female- and one male-...
While total GE and protein levels are only weakly correlated, we found high correlations between their genetically regulated components across multiple tissues. Of note, strong negative causal effects...