A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.
about
The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.Clinical and molecular phenotype of Aicardi-Goutieres syndromeNew Insights into the Biological Role of Mammalian ADARs; the RNA Editing ProteinsIdentification of Candidate Predictors of Lupus FlareA 4-year-old Amish boy with weakness, arthritis, rash, verbal delay, and failure to thriveDiseases associated with defective responses to DNA damageThe enemy within: endogenous retroelements and autoimmune diseaseThe crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partneringPCNA directs type 2 RNase H activity on DNA replication and repair substratesMutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusMouse models for Aicardi-Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunityAicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase.Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infectionMagnetic resonance imaging of anterior temporal lobe cysts in children: discriminating special imaging features in a particular group of diseases.Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.ADAR1 and MicroRNA; A Hidden Crosstalk in Cancer.New roles for the major human 3'-5' exonuclease TREX1 in human disease.Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleasesTransgenic models for cytokine-induced neurological disease.Adenosine deaminase acting on RNA 1 limits RIG-I RNA detection and suppresses IFN production responding to viral and endogenous RNAs.Aicardi-Goutieres syndrome: from patients to genes and beyond.How the misincorporation of ribonucleotides into genomic DNA can be both harmful and helpful to cellsA second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21Ribonuclease H2 in health and disease.The eukaryotic elongation factor eEF1A1 interacts with SAMHD1.Aicardi-Goutières syndrome and the type I interferonopathies.Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expressionAicardi-Goutieres syndrome.Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.New monogenic autoinflammatory diseases--a clinical overviewNeuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome
P2860
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P2860
A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.
description
1984 nî lūn-bûn
@nan
1984 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1984 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
name
A progressive familial encepha ...... brospinal fluid lymphocytosis.
@ast
A progressive familial encepha ...... brospinal fluid lymphocytosis.
@en
A progressive familial encepha ...... brospinal fluid lymphocytosis.
@nl
type
label
A progressive familial encepha ...... brospinal fluid lymphocytosis.
@ast
A progressive familial encepha ...... brospinal fluid lymphocytosis.
@en
A progressive familial encepha ...... brospinal fluid lymphocytosis.
@nl
prefLabel
A progressive familial encepha ...... brospinal fluid lymphocytosis.
@ast
A progressive familial encepha ...... brospinal fluid lymphocytosis.
@en
A progressive familial encepha ...... brospinal fluid lymphocytosis.
@nl
P356
P1433
P1476
A progressive familial encepha ...... brospinal fluid lymphocytosis.
@en
P2093
Goutières F
P2860
P356
10.1002/ANA.410150109
P577
1984-01-01T00:00:00Z