Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.
about
Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonismMutations in NALP12 cause hereditary periodic fever syndromesHeterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypesThe NLR gene family: a standard nomenclatureChronic inflammation: importance of NOD2 and NALP3 in interleukin-1beta generationPopulation genetic tools for dissecting innate immunity in humansA clear and present danger: inflammasomes DAMPing down disorders of pregnancyNALPs: a novel protein family involved in inflammationAssembly of inflammation-related genes for pathway-focused genetic analysisActivation of the Nlrp1b inflammasome by reduction of cytosolic ATPStructural, expression, and evolutionary analysis of mouse CIAS1Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.Assessing ATP binding and hydrolysis by NLR proteinsNeonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist.New prospects in the diagnosis and treatment of immune-mediated inner ear diseasePhenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.Targeting the NLRP3 inflammasome in chronic inflammatory diseases: current perspectives.The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin modelMonocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermiaRedox regulation of NLRP3 inflammasomes: ROS as trigger or effector?Rilonacept in the management of cryopyrin-associated periodic syndromes (CAPS).Innate Defense against Fungal PathogensCanakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS)Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.Therapy of autoinflammatory syndromes.NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.The evolutionary landscape of cytosolic microbial sensors in humans.Autolytic proteolysis within the function to find domain (FIIND) is required for NLRP1 inflammasome activity.CATERPILLERs, pyrin and hereditary immunological disorders.ATP release and purinergic signaling in NLRP3 inflammasome activationThe genetics of the amyloidoses: interactions with immunity and inflammation.Activation of NOD2 in vivo induces IL-1beta production in the eye via caspase-1 but results in ocular inflammation independently of IL-1 signalingInflammasome-mediated autoinflammatory disorders.NLRP3 tyrosine phosphorylation is controlled by protein tyrosine phosphatase PTPN22.Inhibition of hyperhomocysteinemia-induced inflammasome activation and glomerular sclerosis by NLRP3 gene deletion.Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.Cryopyrin-associated periodic syndromes and autoinflammation.Muckle-Wells syndrome in an Indian family associated with NLRP3 mutationThe NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity
P2860
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P2860
Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Association of mutations in th ...... deafness, and AA amyloidosis.
@en
Association of mutations in th ...... deafness, and AA amyloidosis.
@en-gb
type
label
Association of mutations in th ...... deafness, and AA amyloidosis.
@en
Association of mutations in th ...... deafness, and AA amyloidosis.
@en-gb
prefLabel
Association of mutations in th ...... deafness, and AA amyloidosis.
@en
Association of mutations in th ...... deafness, and AA amyloidosis.
@en-gb
P2093
P2860
P50
P356
P1476
Association of mutations in th ...... deafness, and AA amyloidosis.
@en
P2093
Alison Bybee
Conleth Feighery
David R Booth
Ebun Aganna
Finbarr E Cotter
Graham A Hitman
John B Ross
Patricia Woo
Philip N Hawkins
Roxanne Gaudet
P2860
P304
P356
10.1002/ART.10509
P577
2002-09-01T00:00:00Z