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Arthritis and Rheumatism|November 6, 2004
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 feverArturo Diaz, Chunbo Hu, Daniel L Kastner, et al.
Annals of the Rheumatic Diseases|August 14, 2018
Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi studyEldad Ben-Chetrit, Marco Gattorno, Ahmet Gul, et al.
European Journal of Human Genetics : EJHG|December 16, 2003
Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and SwedenMiguel Luz Soares, Teresa Coelho, Alda Sousa, et al.
Molecular Cell|April 2, 2003
Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosisJae Jin Chae, Hirsh D Komarow, Jun Cheng, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 5, 2003
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathwayNitza G Shoham, Michael Centola, Elizabeth Mansfield, et al.
European Journal of Human Genetics : EJHG|September 18, 2014
Identification of possible pathogenic pathways in Behçet's disease using genome-wide association study data from two different populationsBurcu Bakir-Gungor, Elaine F Remmers, Akira Meguro, et al.
Molecular Medicine (Cambridge, Mass.)|October 13, 2007
Association of STAT4 with rheumatoid arthritis in the Korean populationHye-Soon Lee, Elaine F Remmers, Julie M Le, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 21, 2006
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta productionJae Jin Chae, Geryl Wood, Seth L Masters, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 14, 2014
Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicityMichael J Ombrello, Yohei Kirino, Paul I W de Bakker, et al.
The Journal of Allergy and Clinical Immunology|February 9, 2025
Deficiency of adenosine deaminase 2 skews adaptive immune repertoires toward specific sets of T- and B-cell receptorsChristoph Schultheiß, Paul Schmidt-Barbo, Lisa Paschold, et al.
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