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Pediatric rheumatology online journal, ISSN 1546-0096, 2016, Volume 14, Issue 1, p. 35
.... Type I interferonopathies are a clinically heterogenic group of Mendelian diseases with a constitutive activation of this pathway that might present as atypical, severe, early onset rheumatic diseases... 
CANDLE | Type I interferonopathies | Familial lupus | Type I interferon | Aicardi-Goutières syndrome | SAVI | ALPHA MONOCLONAL-ANTIBODY | SYSTEMIC-LUPUS-ERYTHEMATOSUS | HYPER-GAMMA-GLOBULINEMIA | RHEUMATOLOGY | MUSCULAR-ATROPHY | AICARDI-GOUTIERES-SYNDROME | FAMILIAL CHILBLAIN LUPUS | Aicardi-Goutieres syndrome | DNA EXONUCLEASE TREX1 | PROTEASOME SUBUNIT | PEDIATRICS | PHASE-I | IFN-ALPHA | Proteome - genetics | Nervous System Malformations - immunology | Rare Diseases - immunology | Humans | Vascular Calcification - genetics | Rare Diseases - diagnosis | Arthritis, Juvenile - diagnosis | Metacarpus - abnormalities | Interferon Type I - immunology | Mutation - immunology | Autoimmune Diseases - genetics | Osteochondrodysplasias - genetics | Proteome - immunology | Lupus Erythematosus, Systemic - immunology | Osteoporosis - genetics | Autoimmune Diseases of the Nervous System - diagnosis | Metacarpus - immunology | Osteochondrodysplasias - immunology | Osteoporosis - immunology | Signal Transduction | Vascular Calcification - immunology | Aortic Diseases - immunology | Autoimmune Diseases - immunology | Autoimmune Diseases - diagnosis | Mutation - genetics | Odontodysplasia - immunology | Lupus Erythematosus, Systemic - diagnosis | Autoimmune Diseases of the Nervous System - immunology | Dental Enamel Hypoplasia - immunology | Homozygote | Aortic Diseases - genetics | Muscular Diseases - immunology | Rare Diseases - therapy | Arthritis, Juvenile - immunology | Lupus Erythematosus, Systemic - genetics | Nervous System Malformations - diagnosis | Autoimmune Diseases - therapy | Interferon Type I - genetics | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - genetics | Systemic lupus erythematosus | Rheumatic diseases | Practice | Interferon | Research | Children | Rheumatologists | Health aspects | Risk factors
Journal Article
Seminars in immunopathology, ISSN 1863-2300, 2011, Volume 34, Issue 1, pp. 43 - 62
The interaction of coagulation factors with the perivascular environment affects the development of disease in ways that extend beyond their traditional roles in the acute hemostatic cascade... 
Autoimmunity | Complement receptor 3 | Multiple sclerosis | Stroke | Alzheimer’s disease | Internal Medicine | Macrophages | Blood brain barrier | Inflammatory disease | Microglia | Biomedicine | Immunology | Rheumatoid arthritis | CD11b/CD18 | Atherosclerosis | Plasminogen | Anticoagulant therapy | Alzheimer's disease | ALZHEIMERS-DISEASE | IMMUNOLOGY | PATHOLOGY | GAMMA-C-DOMAIN | BINDING-SITE | CENTRAL-NERVOUS-SYSTEM | MULTIPLE-SCLEROSIS LESIONS | CRYSTAL-STRUCTURE | BLOOD-BRAIN-BARRIER | INTEGRIN ALPHA(M)BETA | PROTEASE-ACTIVATED RECEPTORS | PERIPHERAL ARTERIAL-DISEASE | Colitis - genetics | Humans | Brain Injuries - metabolism | Arthritis, Rheumatoid - metabolism | Bacterial Infections - genetics | Inflammation - metabolism | Blood Coagulation - immunology | Muscular Dystrophy, Duchenne - immunology | Alzheimer Disease - immunology | Fibrinogen - immunology | Thromboplastin - immunology | Pulmonary Fibrosis - immunology | Vascular Diseases - genetics | Brain Injuries - genetics | Thrombin - genetics | Kidney Diseases - immunology | Arthritis, Rheumatoid - genetics | Neoplasms - immunology | Colitis - metabolism | Muscular Dystrophy, Duchenne - genetics | Bacterial Infections - metabolism | Neoplasms - metabolism | Pulmonary Fibrosis - genetics | Spinal Cord Injuries - genetics | Kidney Diseases - genetics | Stroke - genetics | Brain Injuries - immunology | Neoplasms - genetics | Bacterial Infections - immunology | Pulmonary Fibrosis - metabolism | Colitis - immunology | Thrombin - immunology | Stroke - immunology | Kidney Diseases - metabolism | Multiple Sclerosis - metabolism | Vascular Diseases - immunology | Spinal Cord Injuries - metabolism | Multiple Sclerosis - genetics | Inflammation - immunology | Fibrinogen - genetics | Stroke - metabolism | Animals | Thromboplastin - genetics | Alzheimer Disease - metabolism | Fibrinogen - metabolism | Inflammation - genetics | Multiple Sclerosis - immunology | Blood Coagulation - genetics | Spinal Cord Injuries - immunology | Muscular Dystrophy, Duchenne - metabolism | Thrombin - metabolism | Thromboplastin - metabolism | Alzheimer Disease - genetics | Arthritis, Rheumatoid - immunology | Vascular Diseases - metabolism | Nervous system diseases | Bacterial infections | Oncology, Experimental | Thrombin | Inflammation | Anticoagulants (Medicine) | Research | Rheumatoid factor | Fibrin | Fibrinogen | Genetic research | Colitis | Cancer | Traumatic brain injury | Coagulation | Tissue factor | hemostasis | Spinal cord injury | Inflammatory diseases | Kidney | Signal transduction | Duchenne's muscular dystrophy | Neurodegenerative diseases | Therapeutic applications | Thrombosis | Coagulation factors | Infection | Molecular modelling | Fibrosis | Brain injury
Journal Article
Spine, ISSN 0362-2436, 06/2015, Volume 40, Issue 12, pp. E675 - E693
.... Herein, the epidemiology, pathogenesis, and genetics of conditions falling under this hypernym are carefully described... 
Degenerative disc disease (DDD) | Ossifi cation of posterior longitudinal ligament (OPLL) | Cervical spondylotic myelopathy (CSM) | Nontraumatic spinal cord injury | Introduction | Ossifi cation of ligamentum flavum (OLF) | Spine | Spondylosis | INTERVERTEBRAL DISCS | ossification of ligamentum flavum (OLF) | nontraumatic spinal cord injury | RISK-FACTORS | KLIPPEL-FEIL-SYNDROME | CANAL STENOSIS | POSTERIOR LONGITUDINAL LIGAMENT | FIGHTER PILOTS | cervical spondylotic myelopathy (CSM) | spine | ASYMPTOMATIC SUBJECTS | CLINICAL NEUROLOGY | SPONDYLOTIC MYELOPATHY | spondylosis | degenerative disc disease (DDD) | SPINAL-CORD COMPRESSION | ORTHOPEDICS | introduction | ossification of posterior longitudinal ligament (OPLL) | MOTION CHARACTERISTICS | Muscular Atrophy, Spinal - diagnosis | Predictive Value of Tests | Occupational Diseases - surgery | Prevalence | Prognosis | Spinal Diseases - genetics | Humans | Occupations | Job Description | Incidence | Occupational Diseases - diagnosis | Muscular Atrophy, Spinal - genetics | Spinal Diseases - diagnosis | Occupational Diseases - genetics | Occupational Diseases - physiopathology | Spinal Diseases - physiopathology | Cervical Vertebrae - physiopathology | Muscular Atrophy, Spinal - physiopathology | Genetic Predisposition to Disease | Spinal Diseases - surgery | Risk Factors | Muscular Atrophy, Spinal - epidemiology | Terminology as Topic | Heredity | Muscular Atrophy, Spinal - surgery | Cervical Vertebrae - surgery | Magnetic Resonance Imaging | Phenotype | Animals | Pedigree | Cervical Vertebrae - pathology | Spinal Diseases - epidemiology | Occupational Diseases - epidemiology
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2008, Volume 105, Issue 32, pp. 11043 - 11049
Aminoacylation of transfer RNAs establishes the rules of the genetic code. The reactions are catalyzed by an ancient group of 20 enzymes... 
Enzymes | Nervous system diseases | Perspective | Cytokines | Amino acids | Autoimmune diseases | Genetic diseases | Genetic mutation | Transfer RNA | Cancer | Tumors | Multifunctional protein | AIMP | GENETIC-CODE AMBIGUITY | MARIE-TOOTH-DISEASE | multifunctional protein | INTERACTING MULTIFUNCTIONAL PROTEIN | RIBONUCLEIC-ACID SYNTHETASE | MULTIDISCIPLINARY SCIENCES | AMYOTROPHIC-LATERAL-SCLEROSIS | NONCANONICAL FUNCTION | TRANSLATIONAL CONTROL | SPINAL MUSCULAR-ATROPHY | INFLAMMATORY MYOFIBROBLASTIC TUMOR | SUPEROXIDE-DISMUTASE | Nervous System Diseases - enzymology | Metabolic Diseases - enzymology | Humans | Multienzyme Complexes - immunology | Metabolic Diseases - immunology | Multienzyme Complexes - metabolism | Nervous System Diseases - genetics | Autoimmune Diseases - genetics | Neovascularization, Pathologic - enzymology | Neoplasms - genetics | Neovascularization, Pathologic - immunology | Enzyme Stability - genetics | Amino Acyl-tRNA Synthetases - metabolism | Cytokines - genetics | Cytokines - immunology | Amino Acyl-tRNA Synthetases - genetics | Autoimmune Diseases - enzymology | Cytokines - metabolism | Autoimmune Diseases - immunology | Transfer RNA Aminoacylation - genetics | Neoplasms - enzymology | Multienzyme Complexes - genetics | Animals | Neoplasms - immunology | Metabolic Diseases - genetics | Neovascularization, Pathologic - genetics | Mutation | Nervous System Diseases - immunology | Evaluation | Biochemical genetics | Research | Aminoacyl-tRNA synthetases | Properties | Enzyme kinetics | Causes and theories of causation | Diseases
Journal Article
International Journal of Dermatology, ISSN 0011-9059, 12/2017, Volume 56, Issue 12, pp. 1406 - 1413
Background Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth... 
KINDLER-SYNDROME | KINDLIN-1 | PROTEIN | MUTATION | VII COLLAGEN | SPECTRUM | DYSTROPHIC EPIDERMOLYSIS-BULLOSA | IDENTIFICATION | DERMATOLOGY | Rare Diseases - genetics | 1-Acylglycerol-3-Phosphate O-Acyltransferase - genetics | Endonucleases - genetics | Lipid Metabolism, Inborn Errors - genetics | Sjogren-Larsson Syndrome - genetics | Xeroderma Pigmentosum - genetics | Humans | Male | Mitochondrial Proteins - genetics | Ichthyosis Vulgaris - genetics | INDEL Mutation | Skin Diseases, Genetic - genetics | Exome | Epidermolysis Bullosa - genetics | DNA Mutational Analysis | Intermediate Filament Proteins - genetics | Female | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Periodontal Diseases - genetics | Protoporphyrinogen Oxidase - genetics | Porphyria, Variegate - genetics | Photosensitivity Disorders - genetics | Epidermolysis Bullosa Simplex - genetics | Flavoproteins - genetics | Membrane Proteins - genetics | Collagen Type VII - genetics | Aldehyde Oxidoreductases - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Blister - genetics | Keratin-14 - genetics | Homozygote | Phenotype | Ichthyosis, Lamellar - genetics | Pedigree | Lipoxygenase - genetics | Consanguinity | Epidermolysis Bullosa Dystrophica - genetics | Muscular Diseases - genetics | Ichthyosiform Erythroderma, Congenital - genetics | Genetic research | Skin | Nucleotide sequencing | Genes | DNA sequencing | Sebaceous glands | Nails | Glands | Teeth | Disorders | Homozygosity | Tissues | Follicles | Gene sequencing | Genodermatosis | Gene mapping
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 12/2015, Volume 173, Issue 6, pp. 1505 - 1513
Journal Article
Neuron, ISSN 0896-6273, 04/2013, Volume 78, Issue 1, pp. 57 - 64
..., Paget’s disease of the bone, and frontotemporal dementia (IBMPFD) and they account for 1... 
LIPID-PEROXIDATION | SPINAL-CORD PATHOLOGY | MOUSE MODEL | ALS | AMYOTROPHIC-LATERAL-SCLEROSIS | DYSFUNCTION | BONE | NEUROSCIENCES | PAGET-DISEASE | TRANSGENIC MICE | REVEALS | RNA, Small Interfering - genetics | Humans | Middle Aged | Male | Frontotemporal Dementia - metabolism | Neurons - ultrastructure | Muscular Dystrophies, Limb-Girdle - genetics | Adenosine Triphosphate - metabolism | Membrane Potential, Mitochondrial - genetics | Muscular Dystrophies, Limb-Girdle - pathology | NAD - metabolism | Fibroblasts - metabolism | Animals, Newborn | Frontotemporal Dementia - genetics | Magnesium - metabolism | Mitochondria - pathology | Fibroblasts - pathology | Mutation - genetics | Myositis, Inclusion Body - genetics | Osteitis Deformans - pathology | Muscular Dystrophies, Limb-Girdle - metabolism | Analysis of Variance | Luminescent Proteins - genetics | Adenosine Triphosphatases - genetics | Mice | Lipid Peroxidation - genetics | RNA, Small Interfering - metabolism | Valosin Containing Protein | Osteitis Deformans - metabolism | Family Health | Cerebral Cortex - cytology | Case-Control Studies | Osteitis Deformans - genetics | Transfection | Mitochondria - genetics | Cell Cycle Proteins - genetics | Myositis, Inclusion Body - pathology | Adult | Female | Neuroblastoma - pathology | Frontotemporal Dementia - pathology | Adenosine Triphosphatases - deficiency | Mice, Inbred C57BL | Cells, Cultured | Cell Cycle Proteins - deficiency | Mitochondria - metabolism | Animals | Oxygen Consumption - genetics | Myositis, Inclusion Body - metabolism | Aged | Nervous system diseases | Neurosciences | Genes | Amyotrophic lateral sclerosis | Genetic aspects | Adenosine triphosphatase | Dementia | Proteins | Medical research | Phosphorylation | Biomedical research | Disease | Rodents | Respiration | Experiments | Patients | Report
Journal Article