(Q34239046)

31 July 2017

Aicardi-Goutieres syndrome: from patients to genes and beyond (English)

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Aicardi-Goutieres syndrome

31 July 2017

1 reference

R Chahwan

2

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author name string

C Chahwan

series ordinal

1

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31 July 2017

8 January 2012

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31 July 2017

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31 July 2017

81

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31 July 2017

5

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31 July 2017

413-420

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A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

31 July 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Microcephaly with extensive calcium deposits and demyelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

The neuropathology of Aicardi-Goutières syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Aicardi-Goutieres syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Aicardi-Goutières syndrome (AGS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Regression of white matter hypodensities with age in Aicardi-Goutierés syndrome: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Aicardi-Goutières syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Aicardi-Goutières syndrome: special type early-onset encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Biomarkers of inflammatory and auto-immune central nervous system disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Trex1 prevents cell-intrinsic initiation of autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

The HD domain defines a new superfamily of metal-dependent phosphohydrolases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Mitochondria in innate immune responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Intrauterine infection/inflammation during pregnancy and offspring brain damages: possible mechanisms involved

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Intrauterine infection/inflammation and perinatal brain damage: role of glial cells and Toll-like receptor signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

PML links aberrant cytokine signaling and oncogenic stress to cellular senescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

DNA damage signaling and p53-dependent senescence after prolonged beta-interferon stimulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Interferon alpha and neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Interferon-alpha causes neuronal dysfunction in encephalitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Cognitive dysfunction in HIV encephalitic SCID mice correlates with levels of Interferon-alpha in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

A potential role for interferon-alpha in the pathogenesis of HIV-associated dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Characterization of Trex1 induction by IFN-γ in murine macrophages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

PCNA directs type 2 RNase H activity on DNA replication and repair substrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Mre11-Rad50-Nbs1-dependent processing of DNA breaks generates oligonucleotides that stimulate ATM activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Are autoantibodies the targets of B-cell-directed therapy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

The Structure of the Human RNase H2 Complex Defines Key Interaction Interfaces Relevant to Enzyme Function and Human Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Elevated Interferon-Alpha in Fetal Blood in the Prenatal Diagnosis of Aicardi-Goutières Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Nucleic acid by-products and chronic inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

The Aicardi–Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01825.X

10.1111/J.1399-0004.2011.01825.X

21 January 2018

Identifiers

DOI

1 reference

31 July 2017

1 reference

PubMed ID

22149989