Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
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Targeted therapeutics in SLE: emerging strategies to modulate the interferon pathwayType I interferonopathies in pediatric rheumatologyAutoimmune diseases - connecting risk alleles with molecular traits of the immune system.Regulation of antiviral innate immune signaling by stress-induced RNA granulesADAR1, inosine and the immune sensing system: distinguishing self from non-selfKey issues in the management of patients with systemic lupus erythematosus: latest developments and clinical implicationsTREM2 in CNS homeostasis and neurodegenerative diseaseThe Influence of LINE-1 and SINE Retrotransposons on Mammalian GenomesEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseNewly recognized Mendelian disorders with rheumatic manifestationsInternational Union of Basic and Clinical Pharmacology. XCVI. Pattern recognition receptors in health and diseaseLGP2 synergy with MDA5 in RLR-mediated RNA recognition and antiviral signalingRNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonselfMutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.Selective RNA targeting and regulated signaling by RIG-I is controlled by coordination of RNA and ATP binding.MAVS is not a Likely Susceptibility Locus for Addison's Disease and Type 1 Diabetes.Aicardi-Goutières syndrome is caused by IFIH1 mutations.The eukaryotic elongation factor eEF1A1 interacts with SAMHD1.A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.Aicardi-Goutières syndrome and the type I interferonopathies.Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instabilityNegative regulation of melanoma differentiation-associated gene 5 (MDA5)-dependent antiviral innate immune responses by Arf-like protein 5BType I interferons link viral infection to enhanced epithelial turnover and repair.Polymorphisms in melanoma differentiation-associated gene 5 link protein function to clearance of hepatitis C virus.Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestationsImmunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kindNovel primary immunodeficiency candidate genes predicted by the human gene connectomeDefective removal of ribonucleotides from DNA promotes systemic autoimmunity.The Broad-Spectrum Antiviral Protein ZAP Restricts Human RetrotranspositionAnimal Models of Interferon Signature Positive Lupus.Kinetic discrimination of self/non-self RNA by the ATPase activity of RIG-I and MDA5MDA5-filament, dynamics and disease.PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T CellsAntiviral Protection via RdRP-Mediated Stable Activation of Innate Immunity.Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.The RNA-editing enzyme ADAR1 controls innate immune responses to RNA.New monogenic autoinflammatory diseases--a clinical overview
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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 30 March 2014
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Gain-of-function mutations in ...... d type I interferon signaling.
@en
Gain-of-function mutations in ...... d type I interferon signaling.
@nl
type
label
Gain-of-function mutations in ...... d type I interferon signaling.
@en
Gain-of-function mutations in ...... d type I interferon signaling.
@nl
prefLabel
Gain-of-function mutations in ...... d type I interferon signaling.
@en
Gain-of-function mutations in ...... d type I interferon signaling.
@nl
P2093
P2860
P50
P356
P1433
P1476
Gain-of-function mutations in ...... d type I interferon signaling.
@en
P2093
Abigail E Collins
Alice Masurel-Paulet
Andrew R Latchman
Bertrand Isidor
Beverley H Anderson
Catherine Vanhulle
Charles M Lourenço
Cyril Mignot
Diana Rodriguez
P2860
P2888
P304
P356
10.1038/NG.2933
P407
P50
P577
2014-03-30T00:00:00Z