Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes - Wikidata - wikimedia - TriplyDB

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes

http://www.wikidata.org/entity/Q24329184

about

Mutations in NALP12 cause hereditary periodic fever syndromes Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders.Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis.Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant.Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes.The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome First report of circulating microRNAs in tumour necrosis factor receptor-associated periodic syndrome (TRAPS).Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)Autoinflammatory syndromes with a dermatological perspective.Periodic fever syndromes: a diagnostic challenge for the allergist.Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues The significance and occurrence of TNF receptor polymorphisms in the Saudi population.Disease Phenotype and Outcome Depending on the Age at Disease Onset in Patients Carrying the R92Q Low-Penetrance Variant in TNFRSF1A Gene.Autoinflammatory syndromes: diagnosis and management.Autoinflammatory diseases and cardiovascular manifestations.Setting up TRAPS.Clinical and biochemical landmarks in systemic autoinflammatory diseases.Unexplained recurrent fever: when is autoinflammation the explanation?Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.Monogenic autoinflammatory diseases.Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome.The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.Canakinumab for the treatment of TNF-receptor associated periodic syndrome.Interleukin-1 Blockade: An Update on Emerging Indications.Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.Future perspective for diagnosis in autoimmune diseases.Caution Should be Used in the Recognition of Adult-Onset Autoinflammatory Disorders: Facts or Fiction?Differential impact of high and low penetrance TNFRSF1A gene mutations on conventional and regulatory CD4+ T cell functions in TNFR1-associated periodic syndrome.Modified regimen of etanercept for tumor necrosis factor receptor associated periodic syndrome (TRAPS) like illness.Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes.Identification of a new exon 2-skipped TNFR1 transcript: regulation by three functional polymorphisms of the TNFR-associated periodic syndrome (TRAPS) gene.The association of TNFRSF1A gene and MEFV gene mutations with adult onset Still's disease.Mutation of the extracellular domain of tumour necrosis factor receptor 1 causes reduced NF-kappaB activation due to decreased surface expression.Intra-abdominal abscess in a patient with tumour necrosis factor receptor-associated periodic syndrome.

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P2860

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes

http://www.wikidata.org/entity/Q24329184

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2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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Arthritis & Rheumatology

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Alison Bybee

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Anna Aldea

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Claudia Mischung

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Ebun Aganna

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Elizabeth M McDermott

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Frank T Saulsbury

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Graham A Hitman

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Hans Kristian Ploos van Amstel

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Jeff L Bidwell

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Joost Frenkel

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P2860

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

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes

The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.

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

Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.

Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene.

A candidate gene for familial Mediterranean fever.

Hereditary periodic fever.

Genetic clues to understanding periodic fevers, and possible therapies.

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2632-44

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10.1002/ART.11215

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9

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48

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Michael McDermott

Juan I Arostegui

Helen J Lachmann

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2003-09-01T00:00:00Z

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10412379

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13130484

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negative regulation of inflammatory response

TNF receptor superfamily member 1A