Physician

Pathology

Ivona Aksentijevich practices Pathology. Ivona Aksentijevich is a published physician. She has 100 publications published. The most current publication "Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3."

Publications

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• New players driving inflammation in monogenic autoinflammatory diseases.
• Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2.
• The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.
• Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts.
• A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency.
• Genotype, phenotype, and clinical course in five patients with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome.
• Deficiency of interleukin-1 receptor antagonist responsive to anakinra.
• Humoral tolerance in xenogeneic BMT recipients conditioned by a nonmyeloablative regimen.
• Efficient expression of drug-selectable genes in retroviral vectors under control of an internal ribosome entry site.
• Retroviral transfer of the human MDR1 gene confers resistance to bisantrene-specific hematotoxicity.
• Viral interference during simultaneous transduction with two independent helper-free retroviral vectors.
• Humoral tolerance in mixed xenogeneic chimeras prepared by a nonmyeloablative conditioning regimen.
• In vitro and in vivo liposome-mediated gene transfer leads to human MDR1 expression in mouse bone marrow progenitor cells.
• Efficient expression of functional human MDR1 gene in murine bone marrow after retroviral transduction of purified hematopoietic stem cells.
• Specific tolerance induction across a xenogeneic barrier: production of mixed rat/mouse lymphohematopoietic chimeras using a nonlethal preparative regimen.
• Natural antibodies can inhibit bone marrow engraftment in the rat----mouse species combination.
• Transplantation of bone marrow cells from transgenic mice expressing the human MDR1 gene results in long-term protection against the myelosuppressive effect of chemoth...
• Natural antibodies against bone marrow cells of a concordant xenogeneic species.
• Retroviral coexpression of a multidrug resistance gene (MDR1) and human alpha-galactosidase A for gene therapy of Fabry disease.
• Gene transfer of drug resistance genes. Implications for cancer therapy.
• Ketoconazole effectively reverses multidrug resistance in highly resistant KB cells.
• Differential effects of P-glycoprotein inhibitors on NIH3T3 cells transfected with wild-type (G185) or mutant (V185) multidrug transporters.
• An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.
• The regulation of MEFV expression and its role in health and familial Mediterranean fever.
• Mendelian diseases among Roman Jews: implications for the origins of disease alleles.
• Refined mapping of the CSNU3 gene to a 1.8-Mb region on chromosome 19q13.1 using historical recombinants in Libyan Jewish cystinuria patients.
• Genomic organization of SLC3A1, a transporter gene mutated in cystinuria.
• Mutations in the SLC3A1 transporter gene in cystinuria.
• Mapping of the familial Mediterranean fever gene to chromosome 16.
• Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
• Localization of a gene causing cystinuria to chromosome 2p.
• Angiotensin I converting enzyme gene polymorphisms in systemic lupus erythematosus: decreased prevalence of DD genotype in African American patients.
• Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3.
• Lack of evidence for an association between two genetic polymorphisms in the tumor necrosis factor receptor 1 gene and multiple sclerosis in Ashkenazi Jews.
• Diagnosis of familial Mediterranean fever by a molecular genetics method.
• Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever.
• Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in ...
• Familial Mediterranean fever (FMF) in Moroccan Jews: demonstration of a founder effect by extended haplotype analysis.
• Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies.
• Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states.
• A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome.
• Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial mediterranean fever.
• Unexpected and variable phenotypes in a family with JAK3 deficiency.
• Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.
• A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.
• Analysis of CARD15/NOD2 haplotypes fails to identify common variants associated with rheumatoid arthritis susceptibility.
• A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD).
• Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population of ''intermediate risk''.
• Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.
• The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.
• The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further gen...
• TNFRSF1A mutations and autoinflammatory syndromes.
• Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance.
• The gene causing familial Mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families.
• Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.
• 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.
• Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error?
• The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases.
• Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health.
• A splicing mutation (891+4A-->G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family.
• Tumor necrosis factor receptor-associated periodic syndrome: a novel syndrome with cutaneous manifestations.
• Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
• Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).
• Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome.
• Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions.
• Defective nuclear IKK? function in patients with ectodermal dysplasia with immune deficiency.
• Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome (TRAPS).
• Clarithromycin in adult-onset still's disease: a potentially useful therapeutic.
• The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist.
• Genetics of monogenic autoinflammatory diseases: past successes, future challenges.
• Internal standard-based analysis of microarray data2--analysis of functional associations between HVE-genes.
• High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collabo...
• Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.
• Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade.
• The role of the pro-apoptotic protein Siva in the pathogenesis of Familial Mediterranean fever: A structural and functional analysis.
• A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
• Autoinflammatory disease reloaded: a clinical perspective.
• Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage ...
• Chronic urticaria of neonatal onset: a potential sign of autoinflammation.
• An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
• Familial Mediterranean fever with a single MEFV mutation: where is the second hit?
• Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy.
• Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*).
• Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases.
• The infevers autoinflammatory mutation online registry: update with new genes and functions.
• TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.
• Autoinflammatory diseases: clinical and genetic advances.
• Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.
• Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness.
• The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.
• Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy.
• Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.
• Mutational analysis in neonatal-onset multisystem inflammatory disease: comment on the articles by Frenkel et al and Saito et al.
• Reduced tumor necrosis factor signaling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant.
• The autoinflammatory syndromes.
• Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.
• The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations.
• De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new me...
• The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.

Doctors Specialties

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• Clinical Molecular Genetics
• Pathology

Accepted Insurances

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Education

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• University of Belgrade Faculty of Medicine

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