(Q37702158)

22 August 2017

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title

Genetics of inflammasome-associated disorders: a lesson in the guiding principals of inflammasome function (English)

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22 August 2017

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Ian Gaël Rodrigue-Gervais

series ordinal

1

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22 August 2017

Maya Saleh

series ordinal

2

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22 August 2017

language of work or name

English

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publication date

1 March 2010

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European Journal of Immunology

22 August 2017

published in

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22 August 2017

volume

40

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22 August 2017

issue

3

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22 August 2017

page(s)

643-648

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Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

22 August 2017

cites work

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7 January 2021

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases

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7 January 2021

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity.

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

A mutation in the Nlrp3 gene causing inflammasome hyperactivation potentiates Th17 cell-dominant immune responses

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

New insights into the nature of autoinflammatory diseases from mice with Nlrp3 mutations

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist

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7 January 2021

Positive clinical and biochemical responses to anakinra in a 3-yr-old patient with cryopyrin-associated periodic syndrome (CAPS)

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

A severe case of chronic infantile neurologic, cutaneous, articular syndrome treated with biologic agents

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Gout-associated uric acid crystals activate the NALP3 inflammasome

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

A pilot study of IL-1 inhibition by anakinra in acute gout

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Mutations in NALP12 cause hereditary periodic fever syndromes

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

NALP1 in vitiligo-associated multiple autoimmune disease

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Common variants in the NLRP3 region contribute to Crohn's disease susceptibility

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

The pyroptosome: a supramolecular assembly of ASC dimers mediating inflammatory cell death via caspase-1 activation

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Caspase-12 mediates endoplasmic-reticulum-specific apoptosis and cytotoxicity by amyloid-beta

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Human caspase 12 has acquired deleterious mutations

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Gender differences in expression of the human caspase-12 long variant determines susceptibility to Listeria monocytogenes infection

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Spread of an inactive form of caspase-12 in humans is due to recent positive selection

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Gene losses during human origins

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Enhanced bacterial clearance and sepsis resistance in caspase-12-deficient mice

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Caspase-12 modulates NOD signaling and regulates antimicrobial peptide production and mucosal immunity

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Finding the missing heritability of complex diseases

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

The genetics and immunopathogenesis of inflammatory bowel disease

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Increased NOD2-mediated recognition of N-glycolyl muramyl dipeptide

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Predictive value of the CARD15 variant 1007fs for the diagnosis of intestinal stenoses and the need for surgery in Crohn's disease in clinical practice: results of a prospective study.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

CARD15 mutations in Blau syndrome

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Disease-associated variants in PYPAF1 and NOD2 result in similar alterations of conserved sequence

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

A Crohn's disease-associated NOD2 mutation suppresses transcription of human IL10 by inhibiting activity of the nuclear ribonucleoprotein hnRNP-A1.

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Inflammatory bowel disease: clinical aspects and established and evolving therapies

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https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

A genome-wide association study identifies IL23R as an inflammatory bowel disease gene

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Nod1 and Nod2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Loss of the autophagy protein Atg16L1 enhances endotoxin-induced IL-1beta production

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

An orthogonal proteomic-genomic screen identifies AIM2 as a cytoplasmic DNA sensor for the inflammasome

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

AIM2 recognizes cytosolic dsDNA and forms a caspase-1-activating inflammasome with ASC

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

HIN-200 proteins regulate caspase activation in response to foreign cytoplasmic DNA

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Evidence for an association of HLA-DRB1*15 and DRB1*09 with leprosy and the impact of DRB1*09 on disease onset in a Chinese Han population

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Common variants at five new loci associated with early-onset inflammatory bowel disease

1 reference

https://api.crossref.org/works/10.1002%2FEJI.200940225

7 January 2021

Identifiers

DOI

10.1002/EJI.200940225

1 reference

22 August 2017

1 reference