(Q56923635)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22129056%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Type I interferonopathies: a novel set of inborn errors of immunity (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22129056%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22129056%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Yanick J. Crow

series ordinal

1

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language of work or name

English

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publication date

1 November 2011

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22129056%20AND%20SRC:MED&resulttype=core&format=json

Annals of the New York Academy of Sciences

17 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22129056%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

1238

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22129056%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

1

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page(s)

91-98

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22129056%20AND%20SRC:MED&resulttype=core&format=json

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

17 January 2020

cites work

1 reference

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Virus interference. I. The interferon

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Virus interference. II. Some properties of interferon

21 January 2018

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The interferons: 50 years after their discovery, there is much more to learn

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Interferons: signaling, antiviral and viral evasion

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Type I interferons: crucial participants in disease amplification in autoimmunity

21 January 2018

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Type I interferons in host defense

21 January 2018

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Nucleic acid recognition by the innate immune system

21 January 2018

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Innate recognition of viruses

21 January 2018

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A cell biological view of Toll-like receptor function: regulation through compartmentalization.

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Exposing viruses: RNA patterns sensed by RIG-I-like receptors

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Autoimmunity and the clearance of dead cells

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Connections between antiviral defense and autoimmunity

21 January 2018

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Putting the brakes on the anti-viral response: negative regulators of type I interferon (IFN) production

21 January 2018

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A diverse range of gene products are effectors of the type I interferon antiviral response

21 January 2018

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Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

21 January 2018

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Autoinflammatory disease reloaded: a clinical perspective

21 January 2018

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Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

21 January 2018

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

21 January 2018

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

21 January 2018

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Familial systemic lupus erythematosus and congenital infection-like syndrome

21 January 2018

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Systemic Lupus Erythematosus or Aicardi-Goutières Syndrome?

21 January 2018

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Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutières syndrome.

21 January 2018

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

21 January 2018

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Clinical and molecular phenotype of Aicardi-Goutieres syndrome

21 January 2018

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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.1749-6632.2011.06220.X

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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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.1749-6632.2011.06220.X

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

21 January 2018

1 reference

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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.1749-6632.2011.06220.X

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

21 January 2018

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

21 January 2018

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Trex1 prevents cell-intrinsic initiation of autoimmunity

21 January 2018

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LINE-1 retrotransposition activity in human genomes

21 January 2018

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Mobile interspersed repeats are major structural variants in the human genome

21 January 2018

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Natural mutagenesis of human genomes by endogenous retrotransposons

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Ribonuclease H: the enzymes in eukaryotes

21 January 2018

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Abortive HIV infection mediates CD4 T cell depletion and inflammation in human lymphoid tissue

21 January 2018

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Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

21 January 2018

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Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

21 January 2018

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Osteopontin expression is essential for interferon-alpha production by plasmacytoid dendritic cells.

21 January 2018

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Age- and gender-specific modulation of serum osteopontin and interferon-alpha by osteopontin genotype in systemic lupus erythematosus.

21 January 2018

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Tartrate-resistant acid phosphatase (TRAP) and the osteoclast/immune cell dichotomy

21 January 2018

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Biology and clinical significance of tartrate-resistant acid phosphatases: new perspectives on an old enzyme

21 January 2018

1 reference

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Incidence of clinically diagnosed systemic lupus erythematosus 1992-1998 using the UK General Practice Research Database.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Genetic susceptibility to systemic lupus erythematosus in the genomic era

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Type I interferon in systemic lupus erythematosus and other autoimmune diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Type I interferons (alpha/beta) in immunity and autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Possible induction of systemic lupus erythematosus by interferon-α treatment in a patient with a malignant carcinoid tumour

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Interferon and granulopoiesis signatures in systemic lupus erythematosus blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Induction of dendritic cell differentiation by IFN-alpha in systemic lupus erythematosus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Mutation of DNASE1 in people with systemic lupus erythematosus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Complement in human diseases: Lessons from complement deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

C1q deficiency leads to the defective suppression of IFN-alpha in response to nucleoprotein containing immune complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Blocking interleukin-1 in rheumatic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Neutralization of interferon-alpha/beta-inducible genes and downstream effect in a phase I trial of an anti-interferon-alpha monoclonal antibody in systemic lupus erythematosus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06220.X

Degos disease: a C5b-9/interferon-α-mediated endotheliopathy syndrome

21 January 2018

1 reference

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10.1111/J.1749-6632.2011.06220.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22129056%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference