C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
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Cerebrovascular disease related to COL4A1 mutations in HANAC syndromeTrex1 prevents cell-intrinsic initiation of autoimmunityContributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complexAicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunityType I interferonopathies in pediatric rheumatologyMigraine in the era of precision medicineA 4-year-old Amish boy with weakness, arthritis, rash, verbal delay, and failure to thriveRPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNAStructural and biochemical studies of TREX1 inhibition by metals. Identification of a new active histidine conserved in DEDDh exonucleasesDefects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune diseaseCopy number variations and strokeGenetic Risk Factors for Ischemic and Hemorrhagic StrokeGenetics of vascular dementia - review from the ICVD working group.The migraine-stroke connection: A genetic perspective.Genetic susceptibility to ischemic stroke.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome mutations increase susceptibility to spreading depression.Cerebral small vessel disease: insights and opportunities from mouse models of collagen IV-related small vessel disease and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Neuropsychiatric Lupus, the Blood Brain Barrier, and the TWEAK/Fn14 Pathway.Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.Unravelling the genetics of ischaemic stroke.New roles for the major human 3'-5' exonuclease TREX1 in human disease.The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers.RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleasesThe neurobiology of migraine.Vascular contributions to cognitive impairment and dementia: a statement for healthcare professionals from the american heart association/american stroke association.An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.Aicardi-Goutieres syndrome: from patients to genes and beyond.Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genesUnveiling clusters of RNA transcript pairs associated with markers of Alzheimer's disease progression.Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation.Simple and convenient G-quadruplex-based turn-on fluorescence assay for 3' → 5' exonuclease activity.Genetic stroke syndromesThe 3'-5' DNA exonuclease TREX1 directly interacts with poly(ADP-ribose) polymerase-1 (PARP1) during the DNA damage response.Aicardi-Goutieres syndrome.Evaluation of the TREX1 gene in a large multi-ancestral lupus cohortGenetics of cerebral small vessel diseaseGenetics of Vascular Dementia.Molecular disorganization of axons adjacent to human lacunar infarctsDominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome.Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease.
P2860
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P2860
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
C-terminal truncations in huma ...... with cerebral leukodystrophy.
@en
type
label
C-terminal truncations in huma ...... with cerebral leukodystrophy.
@en
prefLabel
C-terminal truncations in huma ...... with cerebral leukodystrophy.
@en
P2093
P2860
P50
P356
P1433
P1476
C-terminal truncations in huma ...... with cerebral leukodystrophy.
@en
P2093
Andreas Gschwendter
Anine H Stam
Anna Richards
Boukje de Vries
Caroline W Storimans
Dirk Spitzer
Hafsa Mamsa
Jendo A Oosterhuis
Joanna C Jen
P2860
P2888
P304
P356
10.1038/NG2082
P407
P50
P577
2007-07-29T00:00:00Z
P5875
P6179
1050632219