Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
about
Out of balance: R-loops in human diseaseSAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutationsThe structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defectsMutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseEvolutionary and functional analyses of the interaction between the myeloid restriction factor SAMHD1 and the lentiviral Vpx proteinHow SAMHD1 changes our view of viral restrictionTrex1 prevents cell-intrinsic initiation of autoimmunityContributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complexClinical and molecular phenotype of Aicardi-Goutieres syndromeAicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunityIntegrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genesType I interferonopathies in pediatric rheumatologyDNA polymerase ε and its roles in genome stabilityThe Influence of LINE-1 and SINE Retrotransposons on Mammalian GenomesAdenosine-to-inosine RNA editing and human diseaseReplication and transcription on a collision course: eukaryotic regulation mechanisms and implications for DNA stabilityRibonucleotides in bacterial DNAEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseA 4-year-old Amish boy with weakness, arthritis, rash, verbal delay, and failure to thriveIntracellular nucleic acid sensors and autoimmunityThe enemy within: endogenous retroelements and autoimmune diseaseRPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNAThe Structure of the Mammalian RNase H2 Complex Provides Insight into RNA{middle dot}DNA Hybrid Processing to Prevent Immune DysfunctionStructural Basis for the Inhibition of RNase H Activity of HIV-1 Reverse Transcriptase by RNase H Active Site-Directed InhibitorsCrystal Structures of RNase H2 in Complex with Nucleic Acid Reveal the Mechanism of RNA-DNA Junction Recognition and CleavageThe Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human DiseasePCNA directs type 2 RNase H activity on DNA replication and repair substratesRNase H2 roles in genome integrity revealed by unlinking its activitiesStructure-function analysis of ribonucleotide bypass by B family DNA replicasesStructure and characterization of RNase H3 from Aquifex aeolicusProteolytic Degradation of Topoisomerase II (Top2) Enables the Processing of Top2{middle dot}DNA and Top2{middle dot}RNA Covalent Complexes by Tyrosyl-DNA-Phosphodiesterase 2 (TDP2)Structural Impact of Single Ribonucleotide Residues in DNAAnalysis of subunit assembly and function of the Saccharomyces cerevisiae RNase H2 complex.Redundancy in ribonucleotide excision repair: Competition, compensation, and cooperationMutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusDissecting How CD4 T Cells Are Lost During HIV InfectionMutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureMammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrityGenetic signatures of adaptation revealed from transcriptome sequencing of Arctic and red foxesMouse models for Aicardi-Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity
P2860
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P2860
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
description
2006 nî lūn-bûn
@nan
2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Mutations in genes encoding ri ...... genital viral brain infection.
@ast
Mutations in genes encoding ri ...... genital viral brain infection.
@en
Mutations in genes encoding ri ...... genital viral brain infection.
@en-gb
Mutations in genes encoding ri ...... genital viral brain infection.
@nl
type
label
Mutations in genes encoding ri ...... genital viral brain infection.
@ast
Mutations in genes encoding ri ...... genital viral brain infection.
@en
Mutations in genes encoding ri ...... genital viral brain infection.
@en-gb
Mutations in genes encoding ri ...... genital viral brain infection.
@nl
prefLabel
Mutations in genes encoding ri ...... genital viral brain infection.
@ast
Mutations in genes encoding ri ...... genital viral brain infection.
@en
Mutations in genes encoding ri ...... genital viral brain infection.
@en-gb
Mutations in genes encoding ri ...... genital viral brain infection.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in genes encoding ri ...... genital viral brain infection.
@en
P2093
Amparo Sanchis
Andrea Leitch
Anna Garner
Anne Monier
Bernhard Weschke
Bruce E Hayward
C Geoffrey Woods
Carole McKeown
Catherine Déry
Christopher D Rittey
P2860
P2888
P304
P356
10.1038/NG1842
P407
P50
P577
2006-07-16T00:00:00Z