MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease (Q34625197)

3 August 2017

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease (English)

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3 August 2017

13

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3 August 2017

Cleo C van Diemen

12

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Theo S Plantinga

Theo S Plantinga

5

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Helen J Lachmann

Helen J Lachmann

8

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Anna Simon

Anna Simon

3

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Mihai Netea

4

Mihai G Netea

1 reference

3 August 2017

Jos W. M. van der Meer,

15

Jos W M van der Meer

1 reference

3 August 2017

6

Marcel van Deuren

1 reference

3 August 2017

Monique Stoffels

1

1 reference

3 August 2017

Agata Szperl

2

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3 August 2017

Sylvia Kamphuis

7

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3 August 2017

Edwin Cuppen

9

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3 August 2017

Wigard P Kloosterman

10

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3 August 2017

Joost Frenkel

11

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3 August 2017

Marielle van Gijn

14

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3 August 2017

language of work or name

English

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publication date

16 March 2013

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Annals of the Rheumatic Diseases

3 August 2017

7

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based on heuristic

inferred from page(s)

published in

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3 August 2017

73

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2

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3 August 2017

455-461

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Clinical immunology review series: An approach to the patient with a periodic fever syndrome.

3 August 2017

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Fast and accurate long-read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Disease gene identification strategies for exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

A systematic survey of loss-of-function variants in human protein-coding genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Diversity of human copy number variation and multicopy genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Signaling by toll-like receptor 2 and 4 agonists results in differential gene expression in murine macrophages.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

ATP is released by monocytes stimulated with pathogen-sensing receptor ligands and induces IL-1beta and IL-18 secretion in an autocrine way

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Structure of the PRYSPRY-domain: implications for autoinflammatory diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Structural and functional insights into the B30.2/SPRY domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

TRIM21 is an IgG receptor that is structurally, thermodynamically, and kinetically conserved

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

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/10.1136%2FANNRHEUMDIS-2012-202580

Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

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/10.1136%2FANNRHEUMDIS-2012-202580

Monocyte mRNA phenotype and adverse outcomes from pediatric multiple organ dysfunction syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Pyrin levels in human monocytes and monocyte-derived macrophages regulate IL-1beta processing and release

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

A candidate gene for familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

The transmission/disequilibrium test: history, subdivision, and admixture

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Familial autoinflammatory diseases: genetics, pathogenesis and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

The genetic basis of autosomal dominant familial Mediterranean fever

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Familial Mediterranean fever: the genetics of inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FANNRHEUMDIS-2012-202580

10.1136/ANNRHEUMDIS-2012-202580

21 January 2018

Identifiers

DOI

1 reference

3 August 2017

1 reference