(Q35038000)

5 August 2017

title

Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene (English)

1 reference

5 August 2017

R Caorsi

3

0 references

Isabella Ceccherini

object named as

I Ceccherini

13

0 references

author name string

M A Pelagatti

1

1 reference

5 August 2017

A Meini

2

1 reference

5 August 2017

M Cattalini

4

1 reference

5 August 2017

S Federici

5

1 reference

5 August 2017

F Zulian

6

1 reference

5 August 2017

G Calcagno

7

1 reference

5 August 2017

A Tommasini

8

1 reference

5 August 2017

G Bossi

9

1 reference

5 August 2017

M P Sormani

10

1 reference

5 August 2017

F Caroli

11

1 reference

5 August 2017

A Plebani

12

1 reference

5 August 2017

A Martini

14

1 reference

5 August 2017

M Gattorno

15

1 reference

5 August 2017

publication date

1 April 2011

1 reference

5 August 2017

published in

Arthritis & Rheumatology

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5 August 2017

volume

63

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5 August 2017

issue

4

1 reference

5 August 2017

page(s)

1141-1150

1 reference

Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

The low-penetrance R92Q mutation of the tumour necrosis factor superfamily 1A gene is neither a major risk factor for Wegener's granulomatosis nor multiple sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

The TNFRSF1A R92Q mutation is frequent in rheumatoid arthritis but shows no evidence for association or linkage with the disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

Cross-cultural adaptation and psychometric evaluation of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ) in 32 countries. Review of the general methodology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

Periodic fever syndrome in children

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

8 July 2018

Familial Hibernian fever

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

Syndrome of periodic fever, pharyngitis, and aphthous stomatitis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3112258

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

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FART.30237

Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FART.30237

Proxy-reported health-related quality of life of patients with juvenile idiopathic arthritis: The pediatric rheumatology international trials organization multinational quality of life cohort study

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FART.30237

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/21225694

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21225694

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association of the R92QTNFRSF1Amutation and extracranial deep vein thrombosis in patients with Behçet's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21225694

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ART.30237

1 reference

5 August 2017

0 references

1 reference

5 August 2017

1 reference