(Q37942581)

25 August 2017

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title

Clinical and biochemical landmarks in systemic autoinflammatory diseases (English)

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25 August 2017

1

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4

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Mauro Galeazzi

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25 August 2017

2

Donato Rigante

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25 August 2017

Maria Giuseppina Brizi

3

object named as

Maria Giuseppina Brizi

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25 August 2017

author name string

Gian Domenico Sebastiani

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25 August 2017

Antonio Vitale

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Valentina Gianneramo

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language of work or name

English

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publication date

5 October 2011

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25 August 2017

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volume

44

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issue

7

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page(s)

664-673

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Autoinflammatory diseases

25 August 2017

cites work

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

The inflammasome--a linebacker of innate defense.

21 January 2018

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Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

A candidate gene for familial Mediterranean fever

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Population genetics of familial Mediterranean fever: a review.

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Criteria for the diagnosis of familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Colchicine myopathy and neuromyopathy: two cases with different characteristics

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Hyperimmunoglobulinaemia D and periodic fever: a new syndrome

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Biochemical and genetic aspects of mevalonate kinase and its deficiency

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Regulation of the mevalonate pathway

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.

21 January 2018

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Tumor necrosis factor signaling.

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome

21 January 2018

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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

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

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

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Nod-like proteins in immunity, inflammation and disease

21 January 2018

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https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Follow-up and quality of life of patients with cryopyrin-associated periodic syndromes treated with Anakinra.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Mutations in NALP12 cause hereditary periodic fever syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Peculiarities of PAPA syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

The spectrum of Familial Mediterranean Fever (FMF) mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

The infevers autoinflammatory mutation online registry: update with new genes and functions.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Autoinflammatory bone disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Familial case of Blau syndrome associated with a CARD15/NOD2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Infevers: an evolving mutation database for auto-inflammatory syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Comparative analysis of cytokine profiles in autoinflammatory and autoimmune conditions

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-igd and periodic fever syndrome: its application as a diagnostic tool

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

In vivo regulation of interleukin 1beta in patients with cryopyrin-associated periodic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Pathology, diagnosis and pathogenesis of AA amyloidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Clinical and genetic aspects of the hereditary periodic fever syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Amyloid load and clinical outcome in AA amyloidosis in relation to circulating concentration of serum amyloid A protein

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Human S100A12: a novel key player in inflammation?

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

S100A12 is a novel molecular marker differentiating systemic-onset juvenile idiopathic arthritis from other causes of fever of unknown origin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Interferon-gamma levels in familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Systemic cytokine levels and the effects of etanercept in TNF receptor-associated periodic syndrome (TRAPS) involving a C33Y mutation in TNFRSF1A.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Serum sIL-2r, IL-6, IL-10 and TNF-? level in familial Mediterranean fever patients

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Use of canakinumab in the cryopyrin-associated periodic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

Clinical Manifestations and Longterm Followup of a Patient with CINCA/NOMID Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2011.598546

10.3109/07853890.2011.598546

21 January 2018

Identifiers

DOI

1 reference

25 August 2017

1 reference