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Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein

Annals of the rheumatic diseases, 2010-07, Vol.69 (7), p.1360-1388

2010

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The Gut Microbiota and Short-Chain Fatty Acids Profile in Postural Orthostatic Tachycardia Syndrome

Frontiers in physiology, 2022-06, Vol.13, p.879012-879012

2022

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Evaluation of KIR3DL1/KIR3DS1 polymorphism in Behçet's disease

Genes and immunity, 2016-12, Vol.17 (7), p.396-399

2016

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Oxygen vacancy redistribution in PbZrxTi1−xO3 (PZT) under the influence of an electric field

Solid state ionics, 2014-09, Vol.262, p.625-629

2014

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The systemic autoinflammatory diseases: inborn errors of the innate immune system

Current topics in microbiology and immunology, 2006, Vol.305, p.127

2006

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Variant form of STAT4 is associated with primary Sjögren's syndrome

Genes and immunity, 2008-04, Vol.9 (3), p.267-270

2008

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The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators

Blood, 2000-05, Vol.95 (10), p.3223-3231

2000

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Pyrin Binds the PSTPIP1/CD2BP1 Protein, Defining Familial Mediterranean Fever and PAPA Syndrome as Disorders in the Same Pathway

Proceedings of the National Academy of Sciences - PNAS, 2003-11, Vol.100 (23), p.13501-13506

2003

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Targeted Disruption of Pyrin, the FMF Protein, Causes Heightened Sensitivity to Endotoxin and a Defect in Macrophage Apoptosis

Molecular cell, 2003-03, Vol.11 (3), p.591-604

2003

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Obesity Is Associated with Increased F2-Isoprostanes and IL-6 in Black Women

Endocrines, 2023-01, Vol.4 (1), p.38-54

2023

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Description of a case of daily fever, developmental abnormalities, and a heterozygous M694I MEFV mutation

Pediatric rheumatology online journal, 2015-09, Vol.13 (Suppl 1), p.P121-P121, Article P121

2015

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Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health

Medicine (Baltimore), 1998-07, Vol.77 (4), p.268-297

1998

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High-density SNP analysis of 642 Caucasian families with rheumatoid arthritis identifies two new linkage regions on 11p12 and 2q33

Genes and immunity, 2006-06, Vol.7 (4), p.277-286

2006

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Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population

American journal of human genetics, 1999-04, Vol.64 (4), p.949-962

1999

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PTPN22 Genetic Variation: Evidence for Multiple Variants Associated with Rheumatoid Arthritis

American journal of human genetics, 2005-10, Vol.77 (4), p.567-581

2005

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Fevers, genes, and innate immunity

Current topics in microbiology and immunology, 2008, Vol.321, p.169

2008

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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

American journal of human genetics, 2001-08, Vol.69 (2), p.301-314

2001

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HLA-DRB111 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

Pediatric rheumatology online journal, 2015-09, Vol.13 (99), p.O75-O75, Article O75

2015

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The deficiency of adenosine deaminase type 2-results of therapeutic intervention

Pediatric rheumatology online journal, 2015-09, Vol.13 (Suppl 1), p.O40-O40, Article O40

2015

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Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: Clinical features and assignment of the disease gene to chromosome 1p13-21

Circulation (New York, N.Y.), 2001-06, Vol.103 (23), p.2822-2827

2001

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Gain-of-Function Pyrin Mutations Induce NLRP3 Protein -Independent Interleukin-1β Activation and Severe Autoinflammation in Mice

Immunity (Cambridge, Mass.), 2011-05, Vol.34 (5), p.755-768

2011

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Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever

Journal of rheumatology, 2000-07, Vol.27 (7), p.1703

2000

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Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2

The Journal of clinical investigation, 1996-02, Vol.97 (3), p.699-705

1996

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Activation of the pyrin inflammasome through the RhoA signaling pathway in FMF and HIDS

Pediatric rheumatology online journal, 2015-09, Vol.13 (Suppl 1), p.O11-O11, Article O11

2015

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Familial Mediterranean fever (FMF) and beyond: a new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6–10 November 2005

Annals of the rheumatic diseases, 2006-07, Vol.65 (7), p.961-964

2006

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Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein

The Gut Microbiota and Short-Chain Fatty Acids Profile in Postural Orthostatic Tachycardia Syndrome

Evaluation of KIR3DL1/KIR3DS1 polymorphism in Behçet's disease

Oxygen vacancy redistribution in PbZrxTi1−xO3 (PZT) under the influence of an electric field

The systemic autoinflammatory diseases: inborn errors of the innate immune system

Variant form of STAT4 is associated with primary Sjögren's syndrome

The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators

Pyrin Binds the PSTPIP1/CD2BP1 Protein, Defining Familial Mediterranean Fever and PAPA Syndrome as Disorders in the Same Pathway

Targeted Disruption of Pyrin, the FMF Protein, Causes Heightened Sensitivity to Endotoxin and a Defect in Macrophage Apoptosis

Obesity Is Associated with Increased F2-Isoprostanes and IL-6 in Black Women

Description of a case of daily fever, developmental abnormalities, and a heterozygous M694I MEFV mutation

Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health

High-density SNP analysis of 642 Caucasian families with rheumatoid arthritis identifies two new linkage regions on 11p12 and 2q33

Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population

PTPN22 Genetic Variation: Evidence for Multiple Variants Associated with Rheumatoid Arthritis

Fevers, genes, and innate immunity

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

HLA-DRB111 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

The deficiency of adenosine deaminase type 2-results of therapeutic intervention

Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: Clinical features and assignment of the disease gene to chromosome 1p13-21

Gain-of-Function Pyrin Mutations Induce NLRP3 Protein -Independent Interleukin-1β Activation and Severe Autoinflammation in Mice

Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2

Activation of the pyrin inflammasome through the RhoA signaling pathway in FMF and HIDS

Familial Mediterranean fever (FMF) and beyond: a new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6–10 November 2005

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