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The American Journal of Human Genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 347 - 357
Journal Article
Pediatrics, ISSN 0031-4005, 02/2013, Volume 131, Issue 2, pp. e629 - e634
Folate and vitamin B-12 metabolism are essential for de novo purine synthesis, and several defects in these pathways have been associated with... 
Cobalamin | Megaloblast | Hemolytic uremic syndrome | Folate | Immunodeficiency | folate | DEFECTS | cobalamin | GENE | megaloblast | TRANSCOBALAMIN-II DEFICIENCY | ABNORMALITIES | PEDIATRICS | immunodeficiency | PATIENT | hemolytic uremic syndrome | Peripheral Nervous System Diseases - diagnosis | Leukopenia - diagnosis | Lipid Metabolism, Inborn Errors - genetics | Pneumonia, Pneumocystis - diagnosis | Humans | 3-Hydroxyacyl CoA Dehydrogenases - genetics | Vitamin B 12 - therapeutic use | DNA Mutational Analysis | Sulfadoxine - therapeutic use | Cardiomyopathies - diagnosis | Infant, Newborn | Cardiomyopathies - drug therapy | Mitochondrial Myopathies | Retinitis Pigmentosa - drug therapy | Trimethoprim - therapeutic use | Combined Modality Therapy | Bone Marrow Examination | Sequence Analysis, DNA | Retinitis Pigmentosa - diagnosis | Severe Combined Immunodeficiency - genetics | Pneumonia, Pneumocystis - genetics | Immunization, Passive | Leukopenia - drug therapy | Genetic Carrier Screening | Peripheral Nervous System Diseases - drug therapy | Mitochondrial Trifunctional Protein - deficiency | Anemia, Megaloblastic - genetics | Minor Histocompatibility Antigens | Lipid Metabolism, Inborn Errors - drug therapy | Leukopenia - genetics | Infant | Rhabdomyolysis | Cardiomyopathies - genetics | Anemia, Megaloblastic - diagnosis | Female | Drug Therapy, Combination | Peripheral Nervous System Diseases - genetics | Methylenetetrahydrofolate Dehydrogenase (NADP) - genetics | Hydroxocobalamin - therapeutic use | Pneumonia, Pneumocystis - drug therapy | Severe Combined Immunodeficiency - diagnosis | Lipid Metabolism, Inborn Errors - diagnosis | Severe Combined Immunodeficiency - drug therapy | Retinitis Pigmentosa - genetics | Opportunistic Infections - genetics | Opportunistic Infections - diagnosis | Exome - genetics | Opportunistic Infections - drug therapy | Anemia, Megaloblastic - drug therapy | 3-Hydroxyacyl CoA Dehydrogenases - deficiency | Drug Combinations | Nervous System Diseases | Care and treatment | Gene mutations | Research | Nucleotide sequencing | Diagnosis | Vitamin B12 | Hemolytic-uremic syndrome | DNA sequencing | Pediatrics | Immunology | Vitamin B | Genetics | Mutation | Drug therapy | Metabolism
Journal Article
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 12/2017, Volume 21, Issue 12, pp. 3705 - 3717
Oestrogens have been reported to attenuate acute inflammation in sepsis. In this study, the effects of long‐term oestrogen replacement with 17β‐oestradiol (E2)... 
oestrogen | septic shock | autophagy | HSP70 | inflammation | endotoxaemia | HO‐1 | ovariectomy | multiple organ dysfunction syndrome | oxidative stress | HO-1 | MEDICINE, RESEARCH & EXPERIMENTAL | LUNG INJURY | SEPSIS | ANTIOXIDANT SUPPLEMENTATION | CELL BIOLOGY | PLASMINOGEN-ACTIVATOR | ESTROGEN PROTECTS | GENE-EXPRESSION | ETHYL PYRUVATE | INFLAMMATORY RESPONSE | NF-KAPPA-B | Tumor Necrosis Factor-alpha - metabolism | Heme Oxygenase-1 - metabolism | Cerebrovascular Disorders - drug therapy | Endotoxemia - genetics | Tumor Necrosis Factor-alpha - genetics | Cerebrovascular Disorders - metabolism | Endotoxemia - pathology | Transcription Factor RelA - genetics | Autophagy - drug effects | Lipopolysaccharides | Heme Oxygenase-1 - genetics | Plasminogen Activator Inhibitor 1 - metabolism | Rhabdomyolysis - drug therapy | Rhabdomyolysis - pathology | Female | Renal Insufficiency - drug therapy | Autophagy - genetics | Plasminogen Activator Inhibitor 1 - genetics | Interleukin-6 - metabolism | Estradiol - pharmacology | Renal Insufficiency - genetics | Autophagy-Related Protein 12 - genetics | Drug Administration Schedule | Interleukin-6 - genetics | Ovariectomy | Anti-Inflammatory Agents - pharmacology | Endotoxemia - drug therapy | Gene Expression Regulation | Rats | HSP70 Heat-Shock Proteins - genetics | Renal Insufficiency - metabolism | Autophagy-Related Protein 12 - metabolism | Rats, Sprague-Dawley | HSP70 Heat-Shock Proteins - metabolism | Rhabdomyolysis - metabolism | Animals | Nitric Oxide Synthase Type II - genetics | Transcription Factor RelA - metabolism | Renal Insufficiency - pathology | Rhabdomyolysis - genetics | Cerebrovascular Disorders - genetics | Endotoxemia - metabolism | Cerebrovascular Disorders - pathology | Nitric Oxide Synthase Type II - metabolism | Myoglobin | Intravenous administration | Renal function | Estrogens | Activation | Damage prevention | Renal tubules | Autophagy | Interleukin 6 | Infusion | Rodents | Intravenous infusion | Heart diseases | Endotoxemia | Glutathione | NF-κB protein | Haem | Multiple organ dysfunction syndrome | Contractility | Heat shock proteins | Muscles | Heme oxygenase (decyclizing) | Hsp70 protein | Muscle contraction | Nitric-oxide synthase | Skeletal muscle | Oxygenase | Myocardium | Plasma levels | Phagocytosis | Original
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 09/2017, Volume 62, Issue 9, pp. 809 - 814
Journal Article
Nature Medicine, ISSN 1078-8956, 02/2018, Volume 24, Issue 2, pp. 232 - 238
Rhabdomyolysis is a serious syndrome caused by skeletal muscle injury and the subsequent release of breakdown products from damaged muscle cells into systemic... 
MEDICINE, RESEARCH & EXPERIMENTAL | CONTRIBUTE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MAC-1 | MONOCYTES | ATHEROSCLEROSIS | NEUTROPHILS | CELL BIOLOGY | CD11B/CD18 | INFLAMMATION | RENAL-FAILURE | MICE | SICKLE-CELL-DISEASE | Heme - metabolism | Reactive Oxygen Species - metabolism | Extracellular Traps - metabolism | Extracellular Traps - genetics | Humans | Myoglobin - genetics | Rhabdomyolysis - complications | Crush Syndrome - etiology | Acute Kidney Injury - genetics | Muscle, Skeletal - injuries | Crush Syndrome - pathology | Secretory Vesicles - genetics | Rhabdomyolysis - pathology | Citrullination - genetics | Acute Kidney Injury - etiology | Disease Models, Animal | Macrophages - pathology | Acute Kidney Injury - pathology | Crush Syndrome - genetics | DNA - metabolism | DNA - genetics | Platelet Activation - genetics | Macrophages - metabolism | Animals | Rhabdomyolysis - genetics | Mice | Histones - metabolism | Muscle, Skeletal - pathology | Complications and side effects | Blood platelets | Physiological aspects | Development and progression | Genetic aspects | Research | Rhabdomyolysis | Macrophages | Acute renal failure | Myoglobin | Drug abuse | Reactive oxygen species | Renal function | Man made disasters | Seismic activity | Pathogenesis | Fibers | Proteins | Cell activation | Earthquakes | Rodents | Heme | Damage | Injuries | Deoxyribonucleic acid--DNA | Kidneys | Terrorism | Complications | Medical treatment | Muscles | Citrulline | Natural disasters | Skeletal muscle | Cellular biology | Hypoxia | Platelets
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2017, Volume 12, Issue 3, p. e0172965
Purpose Exertional rhabdomyolysis can occur in individuals performing various types of exercise but it is unclear why some individuals develop this condition... 
POLYMORPHISMS | PERFORMANCE | MULTIDISCIPLINARY SCIENCES | INJURY | ACTN3 GENOTYPE | EXERCISE | INDUCED MUSCLE DAMAGE | Myosin-Light-Chain Kinase - genetics | Prognosis | Humans | Middle Aged | Tumor Necrosis Factor-alpha - blood | Tumor Necrosis Factor-alpha - genetics | Male | Gene Expression Profiling | Peptidyl-Dipeptidase A - genetics | Rhabdomyolysis - diagnosis | Insulin-Like Growth Factor II - genetics | Peptidyl-Dipeptidase A - blood | Interleukin-6 - blood | Actinin - genetics | Rhabdomyolysis - pathology | Adult | Female | Creatine Kinase, MM Form - blood | Physical Exertion | Creatine Kinase, MM Form - genetics | Interleukin-6 - genetics | Gene Expression Regulation | Insulin-Like Growth Factor II - metabolism | Actinin - blood | Rhabdomyolysis - genetics | Adolescent | Running | Myosin-Light-Chain Kinase - blood | Aged | Polymorphism, Single Nucleotide | Rhabdomyolysis - blood | Myoglobin - blood | Creatine kinase | Runners (Sports) | Genetic aspects | Research | Rhabdomyolysis | Single nucleotide polymorphisms | Marathon running | Health aspects | Risk factors | Myoglobin | Physical training | Laboratories | Anthropometry | Single-nucleotide polymorphism | Insulin-like growth factors | Creatine | Kinases | Myosin-light-chain kinase | Training | Interleukin 6 | Proteins | Signal transduction | Vitamin E | Rodents | Race | Genetics | Tumor necrosis factor-TNF | Insulin-like growth factor II | Genotypes | Enzymes | Cytokines | Muscles | Tumor necrosis factor-α | Metabolism | Gene expression | Musculoskeletal system | Physical fitness | Exercise physiology | Habits | Endocrinology
Journal Article