MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease. - Wikidata - awgldk - TriplyDB

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

http://www.wikidata.org/entity/Q34625197

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Familial Mediterranean fever: current perspectives The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients.The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.Treating inflammation by blocking interleukin-1 in humans.Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.A systematic approach to autoinflammatory syndromes: a spelling booklet for the beginner.Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.Lessons from characterization and treatment of the autoinflammatory syndromes.[Role of genetics in familial Mediterranean fever].Evidence of digenic inheritance in autoinflammation-associated genes.Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.Applications of reconstituted inflammasomes in a cell-free system to drug discovery and elucidation of the pathogenesis of autoinflammatory diseases.A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report.

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P2860

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

http://www.wikidata.org/entity/Q34625197

description

2013 nî lūn-bûn

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2013 թուականի Մարտին հրատարակուած գիտական յօդուած

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2013 թվականի մարտին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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MEFV mutations affecting pyrin ...... nant autoinflammatory disease.

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MEFV mutations affecting pyrin ...... nant autoinflammatory disease.

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MEFV mutations affecting pyrin ...... nant autoinflammatory disease.

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MEFV mutations affecting pyrin ...... nant autoinflammatory disease.

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MEFV mutations affecting pyrin ...... nant autoinflammatory disease.

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MEFV mutations affecting pyrin ...... nant autoinflammatory disease.

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MEFV mutations affecting pyrin ...... nant autoinflammatory disease.

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MEFV mutations affecting pyrin ...... nant autoinflammatory disease.

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MEFV mutations affecting pyrin ...... nant autoinflammatory disease.

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ANNRHEUMDIS-2012-202580

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Annals of the Rheumatic Diseases

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MEFV mutations affecting pyrin ...... nant autoinflammatory disease.

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P2093

Agata Szperl

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Edwin Cuppen

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Joost Frenkel

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Jos W M van der Meer

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Marcel van Deuren

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Marielle van Gijn

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Mihai G Netea

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Monique Stoffels

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Sylvia Kamphuis

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Wigard P Kloosterman

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P2860

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

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

Diversity of human copy number variation and multicopy genes

Exome sequencing identifies the cause of a mendelian disorder

A map of human genome variation from population-scale sequencing

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

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

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

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

Disease gene identification strategies for exome sequencing

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455-461

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10.1136/ANNRHEUMDIS-2012-202580

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2

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73

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Theo S Plantinga

Cleo C van Diemen

Helen J Lachmann

P577

2013-03-16T00:00:00Z

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236057733

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23505238

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