A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
about
Type I interferonopathies in pediatric rheumatologyRegulation of antiviral innate immune signaling by stress-induced RNA granulesMAVS is not a Likely Susceptibility Locus for Addison's Disease and Type 1 Diabetes.Aicardi-Goutières syndrome and the type I interferonopathies.ATP 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.Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overviewMultifaceted roles of TRIM38 in innate immune and inflammatory responses.RNA degradation in antiviral immunity and autoimmunityType 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.The Ehlers-Danlos syndromes, rare types.The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity.Where do we stand on vascular calcification?Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus.Endogenous Retroelements and the Host Innate Immune Sensors.Monogenic Lupus.Nucleic acid sensing and innate immunity: signaling pathways controlling viral pathogenesis and autoimmunity.Dermatologic Manifestations of Monogenic Autoinflammatory Diseases.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.The innate immune receptor MDA5 limits rotavirus infection but promotes cell death and pancreatic inflammation.Severe viral respiratory infections in children with IFIH1 loss-of-function mutations.Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.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.Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review.A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.Breaching Self-Tolerance to Alu Duplex RNA Underlies MDA5-Mediated Inflammation.A GTPase-activating protein binding protein (G3BP1) / antiviral protein relay conveys arteriosclerotic Wnt signals in aortic smooth muscle cells.Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.Viruses Seen by Our Cells: The Role of Viral RNA Sensors.
P2860
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P2860
A specific IFIH1 gain-of-function mutation causes 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
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
@ast
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
@en
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
@nl
type
label
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
@ast
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
@en
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
@nl
prefLabel
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
@ast
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
@en
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
@nl
P2093
P2860
P50
P1476
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.
@en
P2093
Annette Feigenbaum
Changming Lu
Frank Rutsch
Heidi Erlandsen
Holger Thiele
Insa Buers
Mary MacDougall
Olga Mamaeva
Raoul C Hennekam
Wolfgang Höhne
P2860
P304
P356
10.1016/J.AJHG.2014.12.014
P407
P577
2015-01-22T00:00:00Z