I Aksentijevich

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc 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
    I 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
  2. ncbi request reprint Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy
    Manop Pithukpakorn
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Adv Dermatol 22:67-90. 2006
  3. ncbi request reprint The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model
    Ivona Aksentijevich
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892 1820, USA
    Arthritis Rheum 56:1273-85. 2007
  4. pmc 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
    I Aksentijevich
    Section of Genetics, Arthritis and Rheumatism Branch, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 69:301-14. 2001
  5. ncbi request reprint Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial mediterranean fever
    J 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
  6. pmc Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3
    M 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
  7. ncbi request reprint Efficient expression of functional human MDR1 gene in murine bone marrow after retroviral transduction of purified hematopoietic stem cells
    T Licht
    Laboratory of Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 4255, USA
    Blood 86:111-21. 1995
  8. ncbi request reprint Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations
    J R Toro
    National Cancer Institute, National Institutes of Health, Bldg 10, Room 12N 238, 10 Center Dr, MSC 1908, Bethesda, MD 20892 1908, USA
    Arch Dermatol 136:1487-94. 2000
  9. ncbi request reprint The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments
    E Mansfield
    Genetics Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases NIH, Bethesda, MD 20892 1820, USA
    Blood 98:851-9. 2001
  10. ncbi request reprint The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases
    M 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

Collaborators

Detail Information

Publications30

  1. pmc 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
    I 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...
  2. ncbi request reprint Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy
    Manop Pithukpakorn
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Adv Dermatol 22:67-90. 2006
  3. ncbi request reprint The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model
    Ivona Aksentijevich
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892 1820, USA
    Arthritis Rheum 56:1273-85. 2007
    ..This study was undertaken to investigate the structural effect of disease-causing mutations on cryopyrin, in order to gain better understanding of the impact of disease-associated mutations on protein function...
  4. pmc 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
    I Aksentijevich
    Section of Genetics, Arthritis and Rheumatism Branch, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 69:301-14. 2001
    ....
  5. ncbi request reprint Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial mediterranean fever
    J 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...
  6. pmc Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3
    M 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...
  7. ncbi request reprint Efficient expression of functional human MDR1 gene in murine bone marrow after retroviral transduction of purified hematopoietic stem cells
    T Licht
    Laboratory of Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 4255, USA
    Blood 86:111-21. 1995
    ..Transduction of P-glycoprotein may be useful for gene therapy in two ways: to protect bone marrow from myelosuppression after chemotherapy and as a selectable marker in vivo for the introduction of otherwise nonselectable genes...
  8. ncbi request reprint Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations
    J R Toro
    National Cancer Institute, National Institutes of Health, Bldg 10, Room 12N 238, 10 Center Dr, MSC 1908, Bethesda, MD 20892 1908, USA
    Arch Dermatol 136:1487-94. 2000
    ..To our knowledge, the cutaneous pathologic characteristics of TRAPS have not been described previously...
  9. ncbi request reprint The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments
    E Mansfield
    Genetics Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases NIH, Bethesda, MD 20892 1820, USA
    Blood 98:851-9. 2001
    ..Blood. 2001;98:851-859)..
  10. ncbi request reprint The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases
    M 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...
  11. ncbi request reprint Unexpected and variable phenotypes in a family with JAK3 deficiency
    D M Frucht
    Arthritis and Rheumatism Branch, National Institute of Arthritis, Musculoskeletal and Skin Diseases, Bethesda, MD, USA
    Genes Immun 2:422-32. 2001
    ....
  12. pmc Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein
    J G Ryan
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, Building 10, Magnuson Clinical Center, 10C101C, Bethesda, Maryland 20892, USA
    Ann Rheum Dis 69:1383-8. 2010
    ..The aim was to characterise the phenotype of patients with these substitutions and to determine their functional significance...
  13. pmc Mutations in the SLC3A1 transporter gene in cystinuria
    E Pras
    Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 1820, USA
    Am J Hum Genet 56:1297-303. 1995
    ..This report brings the number of disease-associated mutations in this gene to 10. We also assess the frequency of these mutations in our 17 cystinuria families...
  14. ncbi request reprint Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3
    R 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...
  15. ncbi request reprint Analysis of CARD15/NOD2 haplotypes fails to identify common variants associated with rheumatoid arthritis susceptibility
    A Addo
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892 0908, USA
    Scand J Rheumatol 34:198-203. 2005
    ..In this study we sought to determine whether CD-associated mutations or any common variants of this gene might contribute to susceptibility to another chronic inflammatory disease, rheumatoid arthritis (RA)...
  16. ncbi request reprint Viral interference during simultaneous transduction with two independent helper-free retroviral vectors
    P S Walker
    Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 1908, USA
    Hum Gene Ther 7:1131-8. 1996
    ..Thus, such dual transductions will likely require in vitro selection or the use of a single retrovirus which contains both desired genes on the same genome...
  17. ncbi request reprint In vitro and in vivo liposome-mediated gene transfer leads to human MDR1 expression in mouse bone marrow progenitor cells
    I Aksentijevich
    Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 4255, USA
    Hum Gene Ther 7:1111-22. 1996
    ..Colony-forming units (CFU-Mix) were obtained after exposure of BMC to lethal doses of vincristine, demonstrating functional expression of the MDR1 gene in hematopoietic progenitor cells for up to 1 month...
  18. ncbi request reprint Autoinflammatory diseases: clinical and genetic advances
    Sharifeh Farasat
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South, Room 7012, Rockville, MD, USA
    Arch Dermatol 144:392-402. 2008
    ....
  19. ncbi request reprint Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation
    Adriana A Jesus
    Pediatric Rheumatology Unit, University of Sao Paulo, Sao Paulo, Brazil
    J Clin Immunol 28:134-8. 2008
    ....
  20. pmc Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness
    Davinder Singh-Grewal
    Ann Rheum Dis 66:1541. 2007
  21. ncbi request reprint Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition
    Raphaela Goldbach-Mansky
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    N Engl J Med 355:581-92. 2006
    ..Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation...
  22. ncbi request reprint Mutational analysis in neonatal-onset multisystem inflammatory disease: comment on the articles by Frenkel et al and Saito et al
    Ivona Aksentijevich
    Arthritis Rheum 54:2703-4; author reply 2704-5. 2006
  23. ncbi request reprint Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome
    Mary A Lokuta
    Department of Pediatrics, University of Wisconsin Medical School, Madison, Wisconsin 53706, USA
    Ann Allergy Asthma Immunol 95:394-9. 2005
    ..Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous, and articular syndrome is an autoinflammatory disease characterized by urticarial rash, arthropathy, and central nervous system inflammation...
  24. ncbi request reprint The autoinflammatory syndromes
    Michael F McDermott
    aUnit of Molecular Medicine, Department of Diabetes and Metabolic Medicine, Barts and The London, Queen Mary School of Medicine and Dentistry, University of London, London, UK
    Curr Opin Allergy Clin Immunol 2:511-6. 2002
    ..The term autoinflammatory disease has been proposed to describe a group of disorders characterized by attacks of seemingly unprovoked inflammation without significant levels of autoantibodies and autoreactive T cells...
  25. ncbi request reprint Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome
    Kazuki Takada
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Arthritis Rheum 48:2645-51. 2003
    ..This study assessed the effects of etanercept, a soluble p75 TNF alpha receptor-Fc fusion protein, in 2 patients with HIDS...
  26. ncbi request reprint De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases
    Ivona Aksentijevich
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892, USA
    Arthritis Rheum 46:3340-8. 2002
    ....
  27. ncbi request reprint The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder
    Keith M Hull
    Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Medicine (Baltimore) 81:349-68. 2002
    ..Our laboratories are currently undertaking both clinical and basic research studies to define the role of these mutations in more common inflammatory diseases...
  28. ncbi request reprint The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
    Keith M Hull
    Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Curr Opin Rheumatol 15:61-9. 2003
    ..Lastly, the authors discuss the broadening genetic and clinical spectrum of TRAPS, an autoinflammatory syndrome resulting from mutations in the 55-kDa receptor for tumor necrosis factor...
  29. pmc Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant
    Stefan Siebert
    Section of Infection and Immunity, Wales College of Medicine, Cardiff University, Cardiff, UK
    Arthritis Rheum 52:1287-92. 2005
    ....
  30. doi request reprint The infevers autoinflammatory mutation online registry: update with new genes and functions
    Florian Milhavet
    Institut de Genetique Humaine, CNRS UPR1142, Montpellier, France
    Hum Mutat 29:803-8. 2008
    ....