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Three novel small deletion mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 5, p. 325, doi. 10.1034/j.1399-0004.1999.550505.x
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- Publication type:
- Article
The Role of T-Cell Receptor β Chain Genes in the Susceptibility to Rheumatoid Arthritis.
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- Annals of the New York Academy of Sciences, 1995, v. 756, n. 1, p. 173, doi. 10.1111/j.1749-6632.1995.tb44502.x
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- Publication type:
- Article
A small-molecule inhibitor of the NLRP3 inflammasome for the treatment of inflammatory diseases.
- Published in:
- Nature Medicine, 2015, v. 21, n. 3, p. 248, doi. 10.1038/nm.3806
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- Publication type:
- Article
REL, encoding a member of the NF-κB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
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- Nature Genetics, 2009, v. 41, n. 7, p. 820, doi. 10.1038/ng.395
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- Publication type:
- Article
A fever gene comes in from the cold.
- Published in:
- Nature Genetics, 2001, v. 29, n. 3, p. 241, doi. 10.1038/ng1101-241
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- Publication type:
- Article
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b<sup>o,+</sup>AT) of rBAT.
- Published in:
- Nature Genetics, 1999, v. 23, n. 1, p. 52
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- Publication type:
- Article
Constitutively Activated NLRP3 Inflammasome Causes Inflammation and Abnormal Skeletal Development in Mice.
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- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035979
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- Article
Pyrin Modulates the Intracellular Distribution of PSTPIP1.
- Published in:
- PLoS ONE, 2009, v. 4, n. 7, p. 1, doi. 10.1371/journal.pone.0006147
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- Article
Galantamine attenuates autoinflammation in a mouse model of familial mediterranean fever.
- Published in:
- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00571-9
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- Publication type:
- Article
The Pyrin Inflammasome in Health and Disease.
- Published in:
- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01745
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- Article
Reply to Stoimenis et al.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1280, doi. 10.1038/ejhg.2014.288
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- Publication type:
- Article
Identification of possible pathogenic pathways in Behçet's disease using genome-wide association study data from two different populations.
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- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 678, doi. 10.1038/ejhg.2014.158
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- Publication type:
- Article
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.
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- European Journal of Human Genetics, 2004, v. 12, n. 3, p. 225, doi. 10.1038/sj.ejhg.5201095
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- Publication type:
- Article
A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD).
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- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 191, doi. 10.1038/sj.ejhg.5200608
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- Publication type:
- Article
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.
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- European Journal of Human Genetics, 2001, v. 9, n. 1, p. 63, doi. 10.1038/sj.ejhg.5200573
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- Publication type:
- Article
Lighting the fires within: the cell biology of autoinflammatory diseases.
- Published in:
- Nature Reviews Immunology, 2012, v. 12, n. 8, p. 570, doi. 10.1038/nri3261
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- Article
CATERPILLERs, pyrin and hereditary immunological disorders.
- Published in:
- 2006
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- Publication type:
- journal article
Case report: Novel variants in RELA associated with familial Behcet’s-like disease.
- Published in:
- Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1127085
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- Publication type:
- Article
HOIL and water: the two faces of HOIL-1 deficiency.
- Published in:
- Nature Immunology, 2012, v. 13, n. 12, p. 1133, doi. 10.1038/ni.2471
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- Publication type:
- Article
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.
- Published in:
- Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00536-y
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- Publication type:
- Article
Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease.
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- Human Molecular Genetics, 2018, v. 27, p. R108, doi. 10.1093/hmg/ddy139
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- Article
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
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- JAMA: Journal of the American Medical Association, 2023, v. 329, n. 4, p. 318, doi. 10.1001/jama.2022.24836
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- Publication type:
- Article
Several Regions in the Major Histocompatibility Complex Confer Risk for Anti-CCP-Antibody Positive Rheumatoid Arthritis, Independent of the DRB1 Locus.
- Published in:
- Molecular Medicine, 2008, v. 14, n. 5/6, p. 293, doi. 10.2119/2007-00123.Lee
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- Publication type:
- Article
Supplement Materials: "Several regions in the major histocompartibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locus".
- Published in:
- Molecular Medicine, 2008, v. 14, n. 5/6, p. 1, doi. 10.2119/2007-00123.Lee
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- Publication type:
- Article
Association of STAT4 with Rheumatoid Arthritis in the Korean Population.
- Published in:
- Molecular Medicine, 2007, v. 13, n. 9/10, p. 455, doi. 10.2119/2007-00072.Lee
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- Publication type:
- Article
Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial Mediterranean fever.
- Published in:
- Mammalian Genome, 2000, v. 11, n. 6, p. 428, doi. 10.1007/s003350010082
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- Publication type:
- Article
The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca<sup>2+</sup> and cAMP.
- Published in:
- Nature, 2012, v. 492, n. 7427, p. 123, doi. 10.1038/nature11588
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- Publication type:
- Article
IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin‐1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis.
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- Arthritis & Rheumatology, 2018, v. 70, n. 8, p. 1319, doi. 10.1002/art.40498
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- Publication type:
- Article
Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.
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- Arthritis & Rheumatology, 2015, v. 67, n. 9, p. 2482, doi. 10.1002/art.39190
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- Article
Brief Report: Connecting Two Pathways Through Ca<sup>2+</sup> Signaling: NLRP3 Inflammasome Activation Induced by a Hypermorphic PLCG2 Mutation.
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- Arthritis & Rheumatology, 2015, v. 67, n. 2, p. 563, doi. 10.1002/art.38961
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- Article
Brief Report: Anakinra Use During Pregnancy in Patients With Cryopyrin-Associated Periodic Syndromes.
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- Arthritis & Rheumatology, 2014, v. 66, n. 11, p. 3227, doi. 10.1002/art.38811
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- Article
Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis data.
- Published in:
- BMC Proceedings, 2009, v. 3, p. 1, doi. 10.1186/1753-6561-3-S7-S2
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- Publication type:
- Article
Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy.
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- British Journal of Haematology, 2009, v. 146, n. 5, p. 467, doi. 10.1111/j.1365-2141.2009.07733.x
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- Publication type:
- Article
Hypophosphatasia and the risk of atypical femur fractures: a case-control study.
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- 2016
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- Publication type:
- journal article
A Novel Unstable Duplication Upstream of HAS2 Predisposes to a Breed-Defining Skin Phenotype and a Periodic Fever Syndrome in Chinese Shar-Pei Dogs.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 3, p. 1, doi. 10.1371/journal.pgen.1001332
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- Publication type:
- Article
A Large-Scale Rheumatoid Arthritis Genetic Study Identifies Association at Chromosome 9q33.2.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 6, p. 1, doi. 10.1371/journal.pgen.1000107
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- Publication type:
- Article
Specificity of the STAT4 Genetic Association for Severe Disease Manifestations of Systemic Lupus Erythematosus.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 5, p. 1, doi. 10.1371/journal.pgen.1000084
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- Publication type:
- Article
Rilonacept for Colchicine-Resistant or -Intolerant Familial Mediterranean Fever.
- Published in:
- Annals of Internal Medicine, 2012, v. 157, n. 8, p. 533, doi. 10.7326/0003-4819-157-8-201210160-00003
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- Publication type:
- Article
A splicing mutation (891+4A→G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family.
- Published in:
- Human Mutation, 1998, v. 11, p. S28, doi. 10.1002/humu.1380110110
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- Publication type:
- Article
VEXAS Syndrome and Disease Taxonomy in Rheumatology.
- Published in:
- Arthritis & Rheumatology, 2022, v. 74, n. 11, p. 1733, doi. 10.1002/art.42258
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- Publication type:
- Article
Excess Serum Interleukin‐18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.
- Published in:
- Arthritis & Rheumatology, 2022, v. 74, n. 2, p. 353, doi. 10.1002/art.41976
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- Publication type:
- Article
The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 10, p. 1581, doi. 10.1093/hmg/7.10.1581
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- Publication type:
- Article
The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 10, p. 1581, doi. 10.1093/hmg/7.10.1581
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- Publication type:
- Article