New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes - Wikidata - awgldk - TriplyDB

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

http://www.wikidata.org/entity/Q24613164

about

Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism Mutations in NALP12 cause hereditary periodic fever syndromes Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes 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 The NLR gene family: a standard nomenclature Early detection of sensorineural hearing loss in Muckle-Wells-syndrome Holding the inflammatory system in check: NLRs keep it cool NALPs: a novel protein family involved in inflammation Assembly of inflammation-related genes for pathway-focused genetic analysis Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases Structural, expression, and evolutionary analysis of mouse CIAS1 Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.Fever of unknown origin in adults: 40 years on.Assessing ATP binding and hydrolysis by NLR proteins Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis.iGLuc: a luciferase-based inflammasome and protease activity reporter.Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1.Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist.Phenotypic 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.Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia Role of genetic alterations in the NLRP3 and CARD8 genes in health and disease.Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS)Therapy of autoinflammatory syndromes.NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.CATERPILLERs, pyrin and hereditary immunological disorders.A probable case of Muckle-Wells syndrome.The genetics of the amyloidoses: interactions with immunity and inflammation.NLRP3 Inflammasome and MS/EAE.Inflammasome-mediated autoinflammatory disorders.Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.NLR proteins: integral members of innate immunity and mediators of inflammatory diseases.Cryopyrin-associated periodic syndromes and autoinflammation.Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity Monogenic autoinflammatory diseases: concept and clinical manifestations.Sensing pathogens and danger signals by the inflammasome The NLRP3 inflammasome: a sensor of immune danger signals.

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P2860

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

http://www.wikidata.org/entity/Q24613164

description

2002 nî lūn-bûn

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2002 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2002 թվականի հունիսին հրատարակված գիտական հոդված

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2002年の論文

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2002年学术文章

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New mutations of CIAS1 that ar ...... ation underlies both syndromes

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New mutations of CIAS1 that ar ...... ation underlies both syndromes

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New mutations of CIAS1 that ar ...... ation underlies both syndromes

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New mutations of CIAS1 that ar ...... ation underlies both syndromes

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New mutations of CIAS1 that ar ...... ation underlies both syndromes

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New mutations of CIAS1 that ar ...... ation underlies both syndromes

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American Journal of Human Genetics

P1476

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P2093

Alain Meyrier

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Anne Nicholls

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Brigitte Granel

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Camille Frances

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Catherine Dodé

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David G I Scott

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Frank Letourneur

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François Garcier

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Gilles Grateau

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Gérard Vaudour

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P2860

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

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

PYPAF1, a PYRIN-containing Apaf1-like protein that assembles with ASC and regulates activation of NF-kappa B

Identification of a locus on chromosome 1q44 for familial cold urticaria.

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

The NACHT family - a new group of predicted NTPases implicated in apoptosis and MHC transcription activation

Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome

Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.

Hereditary periodic fever.

Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.

P304

1498-506

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scholarly article

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10.1086/340786

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P433

6

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70

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Jean-Marie Berthelot

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2002-06-01T00:00:00Z

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11378655

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11992256

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379138

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