Found: 18
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Identification of four novel mutations of the low-density lipoprotein receptor gene in Korean patients with familial hypercholesterolemia.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 3, p. 225, doi. 10.1034/j.1399-0004.2000.570309.x
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- Publication type:
- Article
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
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
Sexual dimorphism in immune response genes as a function of puberty.
- Published in:
- BMC Immunology, 2006, v. 7, p. 2, doi. 10.1186/1471-2172-7-2
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- Publication type:
- 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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- Publication type:
- Article
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
- Published in:
- 2015
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- Publication type:
- journal article
The Inflammasome Pyrin Contributes to Pertussis Toxin-Induced IL-1β Synthesis, Neutrophil Intravascular Crawling and Autoimmune Encephalomyelitis.
- Published in:
- PLoS Pathogens, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.ppat.1004150
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- Publication type:
- Article
Familial Mediterranean fever-related miR-197-3p targets IL1R1 gene and modulates inflammation in monocytes and synovial fibroblasts.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-020-80097-4
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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
Brief Report: Connecting Two Pathways Through Ca<sup>2+</sup> Signaling: NLRP3 Inflammasome Activation Induced by a Hypermorphic PLCG2 Mutation.
- Published in:
- Arthritis & Rheumatology, 2015, v. 67, n. 2, p. 563, doi. 10.1002/art.38961
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- Publication type:
- Article
Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis.
- Published in:
- Nephrology Dialysis Transplantation, 2001, v. 16, n. 5, p. 939, doi. 10.1093/ndt/16.5.939
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- Publication type:
- Article
Analysis of mitochondrial DNA deletions in four chambers of failing human heart: hemodynamic stress, age, and disease are important factors.
- Published in:
- Basic Research in Cardiology, 2000, v. 95, n. 2, p. 163, doi. 10.1007/s003950050178
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- Publication type:
- Article
Allelic Frequencies of Six (CA)n Microsatellite Markers of the Dystrophin Gene in the Korean Population.
- Published in:
- Human Heredity, 1999, v. 49, n. 4, p. 205, doi. 10.1159/000022876
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- Publication type:
- Article
A New MsplPCR-RFLP in the Human LDL Receptor Gene.
- Published in:
- Human Heredity, 1996, v. 46, n. 6, p. 339, doi. 10.1159/000154375
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- Publication type:
- Article
Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages.
- Published in:
- Aging Cell, 2016, v. 15, n. 1, p. 77, doi. 10.1111/acel.12409
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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