A5082857027- Acute Myeloid Leukemia Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chronic Myeloid Leukemia Treatments
- Chronic Lymphocytic Leukemia Research
- Multiple Myeloma Research and Treatments
- Drug Transport and Resistance Mechanisms
- Eosinophilic Disorders and Syndromes
- Hematopoietic Stem Cell Transplantation
- Iron Metabolism and Disorders
- Hemoglobinopathies and Related Disorders
- Protein Degradation and Inhibitors
- Kruppel-like factors research
- Inflammatory Bowel Disease
- Lymphoma Diagnosis and Treatment
- Acute Lymphoblastic Leukemia research
- Trace Elements in Health
- Immune Cell Function and Interaction
- Cancer Genomics and Diagnostics
- Immunodeficiency and Autoimmune Disorders
- T-cell and B-cell Immunology
- Hemophilia Treatment and Research
- Cancer-related gene regulation
- Ubiquitin and proteasome pathways
- Helicobacter pylori-related gastroenterology studies
- Renal Transplantation Outcomes and Treatments
National Center for Epidemiology
2019-2025
Semmelweis University
2016-2025
Hungarian National Blood Transfusion Service
2011-2023
Országos Reumatológiai és Fizioterápiás Intézet
2019
Bristol-Myers Squibb (Switzerland)
2019
National Blood Transfusion Service
2009
National Institute of Oncology
2001-2008
Országos Gyógyintézeti Központ
2007
National Medical Center
2006
University of Regensburg
2001
Somatic insertions/deletions in the calreticulin gene have recently been discovered to be causative alterations myeloproliferative neoplasms. A combination of qualitative and quantitative allele-specific polymerase chain reaction, fragment-sizing, high resolution melting Sanger-sequencing was applied for detection three driver mutations (in Janus kinase 2, leukemia virus oncogene genes) 289 cases essential thrombocythemia 99 primary myelofibrosis. In thrombocythemia, 154 (53%) 2 V617F, 96...
Serial quantification of BCR–ABL1 mRNA is an important therapeutic indicator in chronic myeloid leukaemia, but there a substantial variation results reported by different laboratories. To improve comparability, internationally accepted plasmid certified reference material (CRM) was developed according to ISO Guide 34:2009. Fragments (e14a2 fusion), BCR and GUSB transcripts were amplified cloned into pUC18 yield pIRMM0099. Six linearised solutions produced with the following copy number...
Molecular monitoring of chronic myeloid leukemia patients using robust BCR-ABL1 tests standardized to the International Scale (IS) is key proper disease management, especially when treatment cessation considered. Most laboratories currently use a time-consuming sample exchange process with reference for IS calibration. A World Health Organization (WHO) panel was developed (MR(1)-MR(4)), but access material limited. In this study, we describe development first cell-based secondary that...
Loss-of-function mutations of ABCC6 cause pseudoxanthoma elasticum (PXE). This Mendelian disorder is characterized by elastic calcification leading to dermal, ocular, and cardiovascular symptoms like coronary artery disease (CAD) stroke. Although PXE a recessive disease, microscopic dermal lesions, serum alterations, higher anecdotal incidence stroke or CAD among carriers were reported. Here we investigated the association c.3421C>T loss-of-function mutation A previous study demonstrated...
Multiple myeloma (MM), an incurable malignancy of plasma cells, is predominantly age-related disease, with the majority cases occurring in patients over age 60. Cellular senescence, a fundamental biological process underlying aging, has been increasingly recognized for its critical role developing malignancies. In this study, we aimed to investigate prognostic significance genes implicated molecular mechanisms senescence within large cohort MM patients. Gene expression and clinical data from...
We have developed a rapid, simple and reliable, antibody-based flow cytometry assay for the quantitative determination of membrane proteins in human erythrocytes. Our method reveals significant differences between expression levels wild-type ABCG2 protein heterozygous Q141K polymorphic variant. Moreover, we find that nonsense mutations on one allele result 50% reduction erythrocyte this protein. Since polymorphisms are known to modify essential pharmacokinetic parameters, uric acid...
Abstract Baricitinib is considered a first-line treatment for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-infected adult patients with an associated cytokine storm (CSS). Our objective was to compare rates of secondary infections and long-term outcomes elderly non-elderly who received baricitinib COVID-19. We conducted single-centre observational study between November 2020 September 2023, focusing on hospitalized SARS-CoV-2 CSS, categorized as (≥ 65 years) (< years)....
Abstract Background Marfan syndrome (MFS) is a systemic connective tissue disorder with life-threatening manifestations affecting the ascending aorta. MFS caused by dominant negative (DN) and haploinsufficient (HI) mutations of FBN1 gene. Our aim was to identify patients high detection rate investigate use gene panel for Marfanoid habitus. We also aimed examine correlations between genotype cardiovascular predict “malignant” mutations. Methods 136 individuals were enrolled. In first phase,...
Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for C282Y and H63D mutations HFE gene responsible hereditary hemochromatosis revealed a significantly increased frequency these when compared to healthy blood donors reflecting average population. Among 50 examined [26 refractory anemia (RA), 9 ring sideroblasts (RARS), 2 excess blasts (RAEB) 13 in transformation (RAEB-t)] there were 24 heterozygotes (20 4 C282Y), 1 homozygote compound heterozygote. The...
Objective. MDR1 (ABCB1), a member of the ATP-binding cassette (ABC) transporters, is an attractive candidate gene for pathogenesis inflammatory bowel diseases (IBD) and perhaps response to therapy. Since limited data are available on ABCG2 polymorphisms in East European IBD patients, aim this study was investigate variants responses medical therapy and/or disease phenotype Hungarian patients. Material methods. A total 414 unrelated patients (Crohn's (CD): 265, age: 35.2±12.1 years, duration:...
Mutations of isocitrate dehydrogenase 1 and 2 (IDH1/2) are genetic alterations in acute myeloid leukemia (AML). The aim our study was to investigate the frequency prognostic effect IDH1/2 mutations together followed by an individual analysis each substitution a Hungarian cohort consisting 376 patients with AML. IDH1(mut) IDH2(mut) were mutually exclusive, detected 8.5% 7.5% cases, respectively. IDH1/2(mut) associated with: older age (p = 0.001), higher average platelet count intermediate...
<i>Background:</i> Additional chromosome abnormalities (ACAs), mutations of the BCR-ABL tyrosine kinase domain (TKD) and splice variants may cause resistance to first- second-generation inhibitors (TKIs) in chronic myelogenous leukemia (CML) Philadelphia-positive (Ph+) acute lymphoid (ALL). <i>Methods:</i> Karyotyping TKD mutation screening were performed 71 imatinib-resistant CML patients 6 Ph+ ALL patients. A total 56 out these 77 received TKI....