Genomes and Genes
Affiliation: National Institutes of Health
- The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediatorsM Centola
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Instiutes of Health, Bethesda, MD 20892 1820, USA
Blood 95:3223-31. 2000..These results refine understanding of MEFV by placing the gene in the myelomonocytic-specific proinflammatory pathway and identifying it as an IFN-gamma immediate early gene...
- Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial mediterranean feverJ J Chae
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Building 10, Room 9N 214, Bethesda, Maryland 20892 1820, USA
Mamm Genome 11:428-35. 2000..Mefv is localized on mouse Chromosome (Chr) 16, region A3-B1, extending a region of synteny with human Chr 16p13.3. Development of knockout and knockin mouse models may provide further insights into the functional evolution of this gene...
- Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3M Centola
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health NIH, Bethesda, Maryland 20892 1820, USA
Genome Res 8:1172-91. 1998..This transcript map not only has permitted the identification of the FMF gene (MEFV), but also has provided us an opportunity to probe the structural and functional features of this region of chromosome 16...
- 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 populationI Aksentijevich
Genetics Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892 1820, USA
Am J Hum Genet 64:949-62. 1999..The presence of three frequent MEFV mutations in multiple Mediterranean populations strongly suggests a heterozygote advantage in this geographic region...
- Identification of two Krüppel-related zinc finger genes (ZNF200 and ZNF210) from human chromosome 16p13.3Z Deng
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland, 20892 1820, USA
Genomics 53:97-103. 1998..The locations of ZNF200 and ZNF210 are 10 and 120 kb telomeric to the FMF gene, respectively...
- The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseasesM Centola
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH Building 10, Room 9N210, 9000 Rockville Pike, Bethesda, MD 20892 1820, USA
Hum Mol Genet 7:1581-8. 1998..The molecular characterization of the periodic fever genes should provide important new insights into the regulation of inflammation in general...
- Stat4 is expressed in activated peripheral blood monocytes, dendritic cells, and macrophages at sites of Th1-mediated inflammationD M Frucht
Lymphocyte Cell Biology Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA
J Immunol 164:4659-64. 2000..IFN-alpha-induced Stat4 activation in human monocytes represents a previously unrecognized signaling pathway at sites of Th1 inflammation...
- Characterization of gene expression in resting and activated mast cellsH Chen
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
J Exp Med 188:1657-68. 1998..Significantly, the majority of genes differentially expressed in this well-studied model of mast cell activation have not been identified before this analysis...
- Characterization of viable autofluorescent macrophages among cultured peripheral blood mononuclear cellsJ M Njoroge
Laboratory of Chemical Biology, NIDDK, National Institutes of Health, Bethesda, Maryland, 20892, USA
Cytometry 44:38-44. 2001..CONCLUSION: Viable autofluorescent macrophage populations arising among cultured peripheral blood may be easily identified and isolated for further study using flow cytometry. Cytometry 44:38-44, 2001. Published 2001 Wiley-Liss, Inc...
- Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3R Sood
Arthritis and Rheumatism Branch, National Institute of Arthritis and Muscoloskeletal and Skin Diseases, National Institute of Health, Beinesoa, Maryland 20892, USA
Genomics 42:83-95. 1997..Thus, our high-resolution clone map provides an ideal resource for transcriptional mapping toward the eventual identification of this disease gene...
- Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBATL Feliubadaló
Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Autovia de Castelldefels km 2 7, L Hospitalet de Llobregat, Barcelona, E 08907, Spain
Nat Genet 23:52-7. 1999..Our data establish that mutations in SLC7A9 cause non-type I cystinuria, and suggest that bo,+AT is the light subunit of rBAT...
- Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromesM F McDermott
Medical Unit, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, Whitechapel, London, England
Cell 97:133-44. 1999..TNFR1-associated periodic syndromes (TRAPS) establish an important class of mutations in TNF receptors. Detailed analysis of one such mutation suggests impaired cytokine receptor clearance as a novel mechanism of disease...
- Identification and characterization of a zinc finger gene (ZNF213) from 16p13.3X Chen
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics Birth Defects Center, Cedars Sinai Medical Center and UCLA School of Medicine, 8700 Beverly Blvd, Los Angeles, CA 90048, USA
Biochim Biophys Acta 1444:218-30. 1999..The predicted 424 amino acid protein, designated ZNF213, contains three C2H2 zinc fingers, a Kruppel associated A box and a leucine rich motif (LeR domain/SCAN box), strongly suggestive of a transcription factor...
- A genome-scale assessment of peripheral blood B-cell molecular homeostasis in patients with rheumatoid arthritisP Szodoray
Broegelmann Research Laboratory, The Gade Institute, University of Bergen, Armauer Hansen Bldg, N 5021 Bergen, Norway
Rheumatology (Oxford) 45:1466-76. 2006..While rheumatoid arthritis (RA) is considered a prototypical autoimmune disease, the specific roles of B-cells in RA pathogenesis is not fully delineated...
- Circulating cytokines in Norwegian patients with psoriatic arthritis determined by a multiplex cytokine array systemP Szodoray
Broegelmann Research Laboratory, The Gade Institute, University of Bergen, Bergen, Norway
Rheumatology (Oxford) 46:417-25. 2007..The aim of this study was to describe a broad spectrum of T- and B-cell cytokines, growth factors and chemokines in patients with PsA and healthy individuals...