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Journal of Immunology, ISSN 0022-1767, 09/2015, Volume 195, Issue 5, pp. 1939 - 1943
Detection of intracellular DNA triggers activation of the stimulator of IFN genes dependent IFN-stimulatory DNA (ISD) pathway, which is essential for antiviral... 
CYCLIC GMP-AMP | INTRACELLULAR DNA | LUPUS | DENDRITIC CELLS | GENE | DNA EXONUCLEASE TREX1 | CYTOSOLIC DNA | INNATE IMMUNE SENSOR | MUTATIONS | IMMUNOLOGY | RETROVIRUSES | Nucleotides, Cyclic - metabolism | Phosphoproteins - immunology | Exodeoxyribonucleases - immunology | Interferon-beta - immunology | Nervous System Malformations - immunology | Gene Expression - drug effects | Autoantibodies - blood | Humans | Immunoblotting | Interferons - immunology | Phosphoproteins - metabolism | Inflammation - metabolism | Nervous System Malformations - metabolism | Autoimmune Diseases of the Nervous System - genetics | Gene Expression - immunology | Interferon-beta - genetics | Exodeoxyribonucleases - genetics | Nucleotidyltransferases - metabolism | Autoimmune Diseases of the Nervous System - metabolism | Nervous System Malformations - genetics | Macrophages - immunology | Disease Models, Animal | Fibroblasts - metabolism | Interferons - pharmacology | Mice, Inbred C57BL | Cells, Cultured | Inflammation - immunology | Phosphoproteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Mice, Knockout | Autoimmune Diseases of the Nervous System - immunology | Autoantibodies - immunology | Macrophages - metabolism | Animals | Interferon-beta - metabolism | Embryo, Mammalian - cytology | Fibroblasts - drug effects | Exodeoxyribonucleases - metabolism | Inflammation - genetics | Nucleotidyltransferases - genetics | Fibroblasts - immunology | Macrophages - drug effects | Nucleotidyltransferases - immunology | Nucleotides, Cyclic - immunology
Journal Article
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
The EMBO Journal, ISSN 0261-4189, 04/2016, Volume 35, Issue 8, pp. 831 - 844
Journal Article
Cell, ISSN 0092-8674, 02/2018, Volume 172, Issue 4, pp. 811 - 824.e14
Type I interferon (IFN) is produced when host sensors detect foreign nucleic acids, but how sensors differentiate self from nonself nucleic acids, such... 
type I interferon | neuronal progenitor cells | RNA editing | innate immunity | PKR | Aicardi-Goutieres syndrome | Alu elements | translation | AGS | ADAR1 | MDA5 | INTERFERON | COMPLEX | INHIBITION | PROTEIN-KINASE PKR | LANDSCAPE | BIOCHEMISTRY & MOLECULAR BIOLOGY | BINDING | CELL BIOLOGY | Inflammation - pathology | RNA-Binding Proteins - genetics | Interferon-Induced Helicase, IFIH1 - genetics | Protein Biosynthesis | Nervous System Malformations - immunology | Adenosine Deaminase - metabolism | eIF-2 Kinase - metabolism | Humans | Cell Death - immunology | eIF-2 Kinase - immunology | RNA Polymerase II - metabolism | Neural Stem Cells - cytology | RNA Polymerase II - immunology | Inflammation - metabolism | Neural Stem Cells - immunology | Cell Death - genetics | Nervous System Malformations - metabolism | Autoimmune Diseases of the Nervous System - genetics | HEK293 Cells | RNA, Double-Stranded - metabolism | Autoimmune Diseases of the Nervous System - metabolism | Nervous System Malformations - genetics | eIF-2 Kinase - genetics | Adenosine Deaminase - genetics | RNA-Binding Proteins - immunology | Interferon-Induced Helicase, IFIH1 - metabolism | Inflammation - immunology | Gene Knockout Techniques | Interferon-Induced Helicase, IFIH1 - immunology | Neural Stem Cells - pathology | Autoimmune Diseases of the Nervous System - immunology | RNA, Double-Stranded - genetics | RNA, Double-Stranded - immunology | Inflammation - genetics | RNA Polymerase II - genetics | Alu Elements | Neural Stem Cells - metabolism | Adenosine Deaminase - immunology | RNA-Binding Proteins - metabolism | Prevention | Enzymes | Medical colleges | Messenger RNA | Microbiology | Neurons | Cell death | Communicable diseases | Interferon | Sensors | Biological response modifiers
Journal Article
Neuron, ISSN 0896-6273, 05/2006, Volume 50, Issue 3, pp. 377 - 388
CNS deletion of in the mouse has revealed its roles in controlling cell size and number, thus providing compelling etiology for macrocephaly and... 
HUMDISEASE | DEVBIO | MOLNEURO | COWDEN-SYNDROME | SOMA SIZE | MOLECULAR-GENETICS | TUBEROUS SCLEROSIS COMPLEX | AUTISTIC DISORDER | LHERMITTE-DUCLOS-DISEASE | PROTEIN-KINASE | MOUSE MODEL | FRAGILE-X-SYNDROME | TUMOR-SUPPRESSOR | NEUROSCIENCES | Dendrites - pathology | Neurons - pathology | Autistic Disorder - physiopathology | Autistic Disorder - metabolism | Glycogen Synthase Kinase 3 beta | Reflex, Startle - genetics | Brain - abnormalities | Hypertrophy - pathology | Cerebral Cortex - metabolism | Cerebral Cortex - physiopathology | Hypertrophy - physiopathology | Brain - metabolism | Cell Differentiation - genetics | Nervous System Malformations - metabolism | Social Behavior | Hypertrophy - genetics | Nervous System Malformations - physiopathology | Neurons - metabolism | Nervous System Malformations - genetics | Proto-Oncogene Proteins c-akt - metabolism | Cerebral Cortex - abnormalities | Disease Models, Animal | Autistic Disorder - genetics | Dendrites - metabolism | PTEN Phosphohydrolase - genetics | Brain - physiopathology | Axons - metabolism | Behavior, Animal - physiology | Mice, Transgenic | Glycogen Synthase Kinase 3 - metabolism | Mutation - genetics | Mice, Knockout | Hippocampus - metabolism | Animals | Axons - pathology | Signal Transduction - physiology | Mice | Hippocampus - abnormalities | Hippocampus - physiopathology | Neurons | Proteins | Brain | Rodents | Sexual behavior | Kinases | Age | Tumors
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 468 - 474
Journal Article
Journal Article