|
Muckle-Wells Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease.
|
31057541 |
2019 |
|
Muckle-Wells Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease.
|
31057541 |
2019 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A 5-year-old Japanese boy (proband) came to our hospital because of short stature, reached the diagnosis of Muckle-Wells syndrome (MWS) due to a mutation in NLRP3 gene, which had not been reported so far (p.G328E, c.G983A).
|
30338413 |
2019 |
|
Muckle-Wells Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene.
|
29366613 |
2018 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
NLRP3 senses exogenous and endogenous insults, leading to inflammasome activation, which occurs spontaneously in patients with Muckle-Wells syndrome; BTK mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA).
|
28216434 |
2017 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we reported a novel mutation occurred in exon 1 of NLRP3 gene in an MWS patient and attempted to explore the pathogenic mechanism.
|
28229991 |
2017 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our finding of novel mutations in NLRP3 may expand the diversity of MWS.
|
28028683 |
2017 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.
|
27435956 |
2016 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report two patients with MWS in an Indian family associated with the p.D303N mutation in the NLRP3 gene.
|
25766347 |
2016 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A variable degree (5.5-34.9%) of somatic NLRP3 mosaicism was detected in 12.5% of enrolled patients, all of them with a MWS phenotype.
|
24326009 |
2015 |
|
Muckle-Wells Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
|
25217959 |
2014 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response.
|
24952504 |
2014 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A prospective observational cohort study of children and adults diagnosed as having MWS was conducted at a single center.NLRP3 gene mutations were determined.
|
23440695 |
2013 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder associated with NLRP3 gene mutations, which cause excessive caspase-1 activation and processing of interleukin (IL)-1β and IL-18.
|
22512814 |
2012 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Muckle-Wells syndrome (MWS) is an inherited autoinflammatory disease caused by mutations in the NLRP3 gene that result in excessive interleukin-1 (IL-1) release.
|
21360513 |
2011 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The NLRP3/CIAS1 E311K mutation caused a heterogeneous phenotype of MWS in a large family.
|
22146561 |
2011 |
|
Muckle-Wells Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in a gene related to NOD-2, NLRP3, are responsible for excess caspase 1-dependent interleukin-1beta (IL-1beta) in cryopyrinopathies such as Muckle-Wells syndrome.
|
19180500 |
2009 |
|
Muckle-Wells Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Thus, our case suggests that anakinra possibly affects the cryopyrin inflammasome and markedly improves the clinical and laboratory manifestations of MWS.
|
18311804 |
2008 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Several disorders, including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and neonatal onset multisystem inflammatory disorder (NOMID), are associated with mutations in a common gene, CIAS-1.
|
17927785 |
2008 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Muckle-Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS) are rare periodic fevers associated with CIAS1 mutations.
|
18174231 |
2008 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of six family members' CIAS1-gene exon 3 identified a heterozygous mutation, c.1043C > T. Pertinently, this CAPS is distinct from chronic infantile neurological cutaneous and arthritis syndrome/neonatal onset multisystemic inflammatory disease syndrome and Muckle-Wells syndrome (MWS), which also result from exon 3 mutations in this gene.
|
17178739 |
2007 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The autoinflammatory disorders Muckle-Wells syndrome, familial cold urtecaria and chronic infantile neurological cutaneous and articular syndrome are associated with mutations in the NALP3 (Cryopyrin) gene, which is the central platform of the proinflammatory caspase-1 activating complex, named the inflammasome.
|
17431422 |
2007 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin).
|
18084703 |
2007 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We tested for CIAS1 mutations in 22 patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome, 12 with Muckle-Wells syndrome (MWS), 18 with familial cold-induced autoinflammatory syndrome (FCAS), and 3 probands with MWS/FCAS.
|
17393462 |
2007 |
|
Muckle-Wells Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The disorder was previously shown to be caused by mutations in CIAS1, encoding a pyrin-like protein also involved in the pathogenesis of Muckle-Wells syndrome (MWS), and chronic infantile neurological cutaneous and articular syndrome (CINCA).
|
17284928 |
2007 |