|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutant Nlrp3 KI mice displayed features that recapitulate the immunologic and clinical phenotype of CAPS.
|
31194989 |
2020 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, the aberrant activation of the NLRP3 inflammasome has been linked with several inflammatory disorders, which include cryopyrin-associated periodic syndromes, Alzheimer's disease, diabetes, and atherosclerosis.
|
31284572 |
2019 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The over-production of interleukin (IL)-1β induced by NLRP3 gene mutations plays an important role in the pathophysiology of CAPS.
|
30338413 |
2019 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
Biomarker
|
disease |
BEFREE |
Gain-of-function mutations in NLRP3 in CAPS patients lead to activation of the cryopyrin inflammasome, resulting in the inappropriate release of inflammatory cytokines including IL-1β and CAPS-related inflammatory symptoms.
|
31077002 |
2019 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results identify wild-type NLRP3 as the molecular target of MCC950/CRID3 and show that CAPS-related NLRP3 mutants escape efficient MCC950/CRID3 inhibition.
|
31525186 |
2019 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The cryopyrin associated periodic syndrome (CAPS), the hyper IgD syndrome (HIDS) and the TNF receptor-associated periodic syndrome (TRAPS), are autoinflammatory conditions associated with mutations in the NLRP3, MVK and TNFRSF1A genes, respectively.
|
30418111 |
2019 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
Biomarker
|
disease |
BEFREE |
With respect to NLRP3 mosaicism in CAPS, a prospective longitudinal study on the variant genotype, its allele frequency and its tissue distribution (along with a comprehensive clinical phenotype) would provide better understanding of NLRP3 mosaicism, resulting in more appropriate patient care and genetic counseling.
|
31185077 |
2019 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cryopyrin-associated periodic syndrome (CAPS) is a hereditary autoinflammatory syndrome caused by mutations in <i>NLRP3</i> (encoding cryopyrin), which presents with fever, fatigue and arthralgia.
|
31172726 |
2019 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutated NLRP3 assembles a hyperactive inflammasome, which causes excessive secretion of interleukin (IL)-1β and IL-18 and, ultimately, a spectrum of autoinflammatory disorders known as cryopyrinopathies of which neonatal-onset multisystem inflammatory disease (NOMID) is the most severe phenotype.
|
30388107 |
2018 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CAPS are associated with GOF mutations in the NLRP3 inflammasome and activation of IL-1ß leading to episodes of fever, cutaneous, musculoskeletal, articular, ocular, and neurological symptoms.
|
29610014 |
2018 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Contrary to the NLRP3 mutations described in cryopyrin-associated periodic syndrome, FMF-associated MEFV mutations do not lead to a constitutive activation of Pyrin.
|
29040788 |
2018 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CAPS have been associated with gain-of-function variations in NLRP3 (NOD-like receptor family, pyrin containing domain-3).
|
29951964 |
2018 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, single TLR4 stimulation is sufficient to activate massive, GSDMD-mediated IL-1β secretion in monocytes from patients affected by Cryopyrin Associated Periodic Syndrome (CAPS), an autoinflammatory disease linked to NLRP3 mutations.
|
30352992 |
2018 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cryopyrin associated periodic syndromes (CAPS) comprise a spectrum of autoinflammatory disorders of varying severity caused by mutations in the NLRP3 gene.
|
29148409 |
2018 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function missense mutations in NLRP3 cause the disease spectrum known as the cryopyrin-associated periodic syndromes (CAPS).
|
29130929 |
2017 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It specifically belongs to the cryopyrin-associated periodic syndromes (CAPSs) in which there is a mutation in the NLRP<sub>3</sub> (NLR family pyrin domain containing 3) gene that leads to overproduction of IL-1β, the source of the multisystem inflammatory symptoms.
|
28686751 |
2017 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.
|
28916543 |
2017 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function missense mutations in NLRP3 result in a group of autoinflammatory diseases collectively known as the cryopyrin-associated periodic syndromes (CAPS).
|
29130931 |
2017 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cryopyrin-associated periodic syndromes (CAPS) result from gain-of-function mutations in the NLRP3 gene, which causes excessive release of interleukin-1β (IL-1β) and systemic inflammation.
|
28692792 |
2017 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here we show that the intestines of CAPS model mice carrying an Nlrp3 <sup>R258W</sup> mutation maintain homeostasis in the gut.
|
29196621 |
2017 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
Biomarker
|
disease |
BEFREE |
Importantly, treatment with CY-09 shows remarkable therapeutic effects on mouse models of cryopyrin-associated autoinflammatory syndrome (CAPS) and type 2 diabetes.
|
29021150 |
2017 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Additionally, QUC inhibited IL-1β in Cryopyrin-Associated Periodic Syndromes (CAPS) macrophages, where NLRP3 inflammasome is constitutively activated.
|
28148962 |
2017 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations of <i>NLRP3</i> result in abnormal activation of the NLRP3 inflammasome, and cause the autosomal dominant systemic autoinflammatory disease spectrum, termed cryopyrin-associated periodic syndromes (CAPS).
|
28847925 |
2017 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CAPS are associated with gain-of-function mutations in the NLRP3 inflammasome, a multiprotein complex critical for the activation of IL-1ß, and are characterized by episodes of fever, urticaria-like rash, musculoskeletal, ocular, and neurological symptoms.
|
28586272 |
2017 |
|
Cryopyrin-Associated Periodic Syndromes
|
0.500 |
Biomarker
|
disease |
BEFREE |
Cryopyrin-associated periodic syndromes (CAPS) is a rare group of autoinflammatory disorders that includes familial cold autoinflammatory syndrome or FCAS, Muckle-wells syndrome or MWS, and neonatal-onset multisystem inflammatory disease or NOMID.
|
26140469 |
2016 |