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Current Opinion in Immunology, ISSN 0952-7915, 2014, Volume 32, pp. 7 - 12
Highlights • Uncontrolled up-regulation of type I interferon signaling can cause human disease. • Human monogenic type I interferonopathies are being... 
Allergy and Immunology | AICARDI-GOUTIERES-SYNDROME | SYSTEMIC-LUPUS-ERYTHEMATOSUS | CYCLIC GMP-AMP | C1Q DEFICIENCY | GENOME INTEGRITY | INNATE IMMUNE-RESPONSE | CYTOSOLIC DNA | PROGRESSIVE FAMILIAL ENCEPHALOPATHY | IMMUNOLOGY | AUTOIMMUNE-DISEASE | IFN-ALPHA | Up-Regulation | Humans | Autoimmune Diseases - genetics | Osteochondrodysplasias - drug therapy | STAT1 Transcription Factor - metabolism | Osteochondrodysplasias - genetics | Nervous System Malformations - metabolism | Autoimmune Diseases of the Nervous System - genetics | Interferon Type I - metabolism | Autoimmune Diseases of the Nervous System - metabolism | Nervous System Malformations - genetics | Autoimmune Diseases - metabolism | Autoimmune Diseases - drug therapy | Autoimmune Diseases of the Nervous System - diagnosis | Genetic Association Studies | Signal Transduction | Gene Expression Regulation | Autoimmune Diseases - diagnosis | Osteochondrodysplasias - diagnosis | STAT1 Transcription Factor - genetics | Autoimmune Diseases of the Nervous System - drug therapy | Proteasome Endopeptidase Complex - genetics | Phenotype | Animals | Nervous System Malformations - diagnosis | Nervous System Malformations - drug therapy | Complement C1q - deficiency | Mutation | Proteasome Endopeptidase Complex - metabolism | Osteochondrodysplasias - metabolism | Biological response modifiers | Interferon | Genetics
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2016, Volume 90, Issue 1, pp. 90 - 95
Journal Article
Journal of Postgraduate Medicine, ISSN 0022-3859, 04/2018, Volume 64, Issue 2, pp. 98 - 103
Journal Article
Science, ISSN 0036-8075, 4/2011, Volume 332, Issue 6026, pp. 240 - 243
The spliceosome, a ribonucleoprotein complex that includes proteins and small nuclear RNAs (snRNAs), catalyzes RNA splicing through intron excision and exon... 
Messenger RNA | Splicing | Introns | Genes | REPORTS | Cell lines | Fibroblasts | Small nuclear RNA | Spliceosomes | Genetic mutation | Sequencing | U4 SNRNA | RNA SURVEILLANCE | PROTEIN | NONSENSE-MEDIATED DECAY | INTRONS | MULTIDISCIPLINARY SCIENCES | SPLICEOSOME | U12-TYPE | INBREEDING COEFFICIENT | DWARFISM | Microcephaly - genetics | Microtubule-Associated Proteins - genetics | Spliceosomes - genetics | Humans | Child, Preschool | Fetal Growth Retardation - genetics | Infant | Male | Chromosomes, Human, Pair 2 - genetics | Spliceosomes - metabolism | RNA Splicing | Dwarfism - metabolism | Osteochondrodysplasias - genetics | RNA, Small Nuclear - genetics | Female | Nucleic Acid Conformation | Inverted Repeat Sequences | Cell Line | RNA Splice Sites | Microcephaly - metabolism | Fetal Growth Retardation - metabolism | Dwarfism - genetics | Point Mutation | Base Pairing | Pedigree | RNA, Small Nuclear - chemistry | RNA, Small Nuclear - metabolism | Osteochondrodysplasias - metabolism | Genetic aspects | Properties | Developmental bone diseases | RNA splicing | Mental disorders | Ribonucleic acid--RNA | Developmental disabilities | Microcephaly | Chromosomes, Human, Pair 2 | Dwarfism | Life Sciences | Osteochondrodysplasias | Computer Science | RNA, Small Nuclear | Modeling and Simulation | Fetal Growth Retardation | Microtubule-Associated Proteins
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 12/2016, Volume 175, Issue 6, pp. P1 - P17
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 02/2016, Volume 291, Issue 9, pp. 4334 - 4341
The triggering receptor expressed on myeloid cells (TREM) 2 is a member of the immunoglobulin superfamily of receptors and mediates signaling in immune cells... 
NASU-HAKOLA-DISEASE | MICROGLIAL RESPONSE | TYPE-4 ALLELE | ALZHEIMERS-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | A-BETA | AMYOTROPHIC-LATERAL-SCLEROSIS | FRONTOTEMPORAL LOBAR DEGENERATION | GAMMA-SECRETASE | MISSENSE MUTATIONS | APOLIPOPROTEIN-E | Microglia - metabolism | Neurons - pathology | Osteochondrodysplasias - pathology | Membrane Glycoproteins - metabolism | Humans | Neurodegenerative Diseases - immunology | Lipodystrophy - immunology | Microglia - immunology | Osteochondrodysplasias - genetics | Myeloid Cells - immunology | Microglia - pathology | Membrane Proteins - metabolism | Neurons - metabolism | Subacute Sclerosing Panencephalitis - pathology | Osteochondrodysplasias - immunology | Neurodegenerative Diseases - pathology | Subacute Sclerosing Panencephalitis - immunology | Membrane Proteins - genetics | Neurons - immunology | Neurodegenerative Diseases - genetics | Lipodystrophy - metabolism | Neurodegenerative Diseases - metabolism | Nerve Tissue Proteins - genetics | Membrane Glycoproteins - genetics | Lipodystrophy - genetics | Nerve Tissue Proteins - metabolism | Animals | Triggering Receptor Expressed on Myeloid Cells-1 | Models, Biological | Adaptor Proteins, Signal Transducing - genetics | Lipodystrophy - pathology | Subacute Sclerosing Panencephalitis - genetics | Myeloid Cells - metabolism | Subacute Sclerosing Panencephalitis - metabolism | Mutation | Myeloid Cells - pathology | Adaptor Proteins, Signal Transducing - metabolism | Receptors, Immunologic - genetics | Receptors, Immunologic - metabolism | Osteochondrodysplasias - metabolism | neurodegenerative disease | Alzheimer disease | neuroinflammation | protein processing | cell signaling | Minireviews | microglia
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 05/2014, Volume 4, Issue 1, p. 4957
Microglia have been implicated in various neurological and psychiatric disorders in rodent and human postmortem studies. However, the dynamic actions of... 
PLURIPOTENT STEM-CELLS | PHYSIOLOGY | COLONY-STIMULATING FACTOR | MULTIDISCIPLINARY SCIENCES | BONE-MARROW | NEURONS | RECEPTOR | PROLIFERATION | MATURATION | BRAIN | FIBROBLASTS | Microglia - metabolism | Osteochondrodysplasias - pathology | Monocytes - cytology | Humans | Middle Aged | Monocytes - metabolism | Lipodystrophy - immunology | Osteochondrodysplasias - genetics | RNA Interference | Inflammation Mediators - metabolism | Female | Membrane Proteins - metabolism | Subacute Sclerosing Panencephalitis - pathology | Microglia - cytology | Osteochondrodysplasias - immunology | Cytokines - metabolism | Microglia - drug effects | Subacute Sclerosing Panencephalitis - immunology | Membrane Proteins - genetics | Immunophenotyping | Lipodystrophy - metabolism | Lipodystrophy - genetics | Monocytes - drug effects | Cell Differentiation - drug effects | Adaptor Proteins, Signal Transducing - genetics | Lipodystrophy - pathology | Subacute Sclerosing Panencephalitis - genetics | Subacute Sclerosing Panencephalitis - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Cytokines - pharmacology | Osteochondrodysplasias - metabolism | Neurological diseases | Phagocytes | Monocytes | Mental disorders | Granulocyte-macrophage colony-stimulating factor | Rodents | Blood cells | Peripheral blood | Inflammation | Cerebrospinal fluid | Nasu-Hakola disease | Microglia
Journal Article