Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. - Wikidata - wikimedia - TriplyDB

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

http://www.wikidata.org/entity/Q33388122

about

SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects A 4-year-old Amish boy with weakness, arthritis, rash, verbal delay, and failure to thrive TLRs and interferons: a central paradigm in autoimmunity RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA The Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human Disease PCNA directs type 2 RNase H activity on DNA replication and repair substrates Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature Mouse models for Aicardi-Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers.Aicardi-Goutières syndrome is caused by IFIH1 mutations.dNTP pool modulation dynamics by SAMHD1 protein in monocyte-derived macrophages.Aicardi-Goutieres syndrome: from patients to genes and beyond.How the misincorporation of ribonucleotides into genomic DNA can be both harmful and helpful to cells Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development.Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes SAMHD1 prevents autoimmunity by maintaining genome stability.Ribonuclease H2 in health and disease.Aicardi-Goutières syndrome and the type I interferonopathies.Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression Identification of host proteins interacting with the integrin-like A domain of Toxoplasma gondii micronemal protein MIC2 by yeast-two-hybrid screening.Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort Genetic susceptibility to systemic lupus erythematosus in the genomic era Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome.Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.Type I interferon and systemic lupus erythematosus.The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.The danger model approach to the pathogenesis of the rheumatic diseases.Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Immunogenetics of systemic lupus erythematosus: A comprehensive review.Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation.Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory Diseases Synergy between Hematopoietic and Radioresistant Stromal Cells Is Required for Autoimmune Manifestations of DNase II-/-IFNaR-/- Mice Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response.The TREX1 C-terminal region controls cellular localization through ubiquitination.Rare variants in the TREX1 gene and susceptibility to autoimmune diseases cAMP responsive element modulator: a critical regulator of cytokine production Overview of common, rare and atypical manifestations of cutaneous lupus erythematosus and histopathological correlates.Gene-function studies in systemic lupus erythematosus.

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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

http://www.wikidata.org/entity/Q33388122

description

2010 nî lūn-bûn

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2010 թվականի մայիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

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Arthritis & Rheumatology

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Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.

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A Micheil Innes

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Andrea Bevot

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Celina von Stülpnagel

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Christoph Hertzberg

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Chrysanthy Ikonomidou

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Corinna Siegel

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Dagmar Wieczorek

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Frank Niemann

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Hans-Helmut Richardt

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Hartmut Walkenhorst

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P2860

A proposed classification of the immunological diseases

Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Trex1 prevents cell-intrinsic initiation of autoimmunity

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

Aicardi-Goutières syndrome: an update and results of interferon-alpha studies

The 1982 revised criteria for the classification of systemic lupus erythematosus

Imaging modalities in central nervous system systemic lupus erythematosus.

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1469-1477

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10.1002/ART.27367

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5

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62

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Georgia Ramantani

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2010-05-01T00:00:00Z

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41406170

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20131292

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