Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
about
Type I interferonopathies in pediatric rheumatologyRegulation of antiviral innate immune signaling by stress-induced RNA granulesNewly recognized Mendelian disorders with rheumatic manifestationsSelective 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 and the type I interferonopathies.Kinetic discrimination of self/non-self RNA by the ATPase activity of RIG-I and MDA5ATP hydrolysis by the viral RNA sensor RIG-I prevents unintentional recognition of self-RNA.Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.Ubiquitin-like modifier FAT10 attenuates RIG-I mediated antiviral signaling by segregating activated RIG-I from its signaling platformStructural Analysis of dsRNA Binding to Anti-viral Pattern Recognition Receptors LGP2 and MDA5Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overviewWhen your cap matters: structural insights into self vs non-self recognition of 5' RNA by immunomodulatory host proteins.Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease.Identification of an atypical etiological head and neck squamous carcinoma subtype featuring the CpG island methylator phenotypeMultifaceted roles of TRIM38 in innate immune and inflammatory responses.Type I interferonopathies--an expanding disease spectrum of immunodysregulation.Genetically defined autoinflammatory diseases.Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review.Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus.Endogenous Retroelements and the Host Innate Immune Sensors.Understanding Human Autoimmunity and Autoinflammation Through Transcriptomics.Nucleic acid sensing and innate immunity: signaling pathways controlling viral pathogenesis and autoimmunity.New insights into the immunopathogenesis of systemic lupus erythematosus.Cytosolic nucleic acid sensors and innate immune regulation.Discrimination of cytosolic self and non-self RNA by RIG-I-like receptors.Type I interferon pathway in CNS homeostasis and neurological disorders.Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.Viral RNA-Unprimed Rig-I Restrains Stat3 Activation in the Modulation of Regulatory T Cell/Th17 Cell Balance.RIG-I-Like Receptors and Type I Interferonopathies.MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.[Type I interferonopathies. Systemic inflammatory diseases triggered by type I interferons].RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome.Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis.A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.Bone involvement in monogenic autoinflammatory syndromes.MTHFSD and DDX58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis.A GTPase-activating protein binding protein (G3BP1) / antiviral protein relay conveys arteriosclerotic Wnt signals in aortic smooth muscle cells.Viruses Seen by Our Cells: The Role of Viral RNA Sensors.
P2860
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P2860
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
description
2015 nî lūn-bûn
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2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
@ast
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
@en
type
label
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
@ast
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
@en
prefLabel
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
@ast
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
@en
P2093
P2860
P1476
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome
@en
P2093
Byoung Joon Kim
Chang-Seok Ki
Changwon Kee
Cheol-Hee Kim
Duk-Kyung Kim
Eun Kyoung Kim
Hesung Now
Jinhyuk Lee
Jong-Won Kim
Joo-Heung Lee
P2860
P304
P356
10.1016/J.AJHG.2014.11.019
P407
P50
P577
2015-01-22T00:00:00Z