A5013030378- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Biochemical and Molecular Research
- Diet and metabolism studies
- Neurofibromatosis and Schwannoma Cases
- Acute Myeloid Leukemia Research
- Genetic Neurodegenerative Diseases
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Parkinson's Disease Mechanisms and Treatments
- Chronic Lymphocytic Leukemia Research
- Soft tissue tumors and treatment
- RNA modifications and cancer
- Genomics and Rare Diseases
- Meningioma and schwannoma management
- Biochemical Acid Research Studies
- Fungal and yeast genetics research
- Epigenetics and DNA Methylation
- Neonatal Respiratory Health Research
- Protein Degradation and Inhibitors
- Neurogenetic and Muscular Disorders Research
- Sarcoma Diagnosis and Treatment
- Alcoholism and Thiamine Deficiency
- Peroxisome Proliferator-Activated Receptors
Biomedical Research Center of the Slovak Academy of Sciences
2017-2025
Geneton (Slovakia)
2022-2023
Comenius University Bratislava
2003-2022
Slovak Academy of Sciences
2000-2016
University Hospital Bratislava
2014
Temple Street Children's University Hospital
2014
Centre of Biosciences of the Slovak Academy of Sciences
2013
Medical University of Vienna
2004-2009
University of Vienna
2003-2006
Alkaptonuria (AKU) is a serious genetic disease characterised by premature spondyloarthropathy. Homogentisate-lowering therapy being investigated for AKU. Nitisinone decreases homogentisic acid (HGA) in AKU but the dose-response relationship has not been previously studied.Suitability Of In 1 (SONIA 1) was an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, study. The primary objective to investigate effect of different doses nitisinone once daily...
Abstract There is evidence that 8q amplification associated with poor prognosis in hepatoblastoma. A previous comparative genomic hybridization analysis identified a critical region chromosomal bands 8q11.2–q13. Using restriction landmark scanning combination virtual genome scan, we showed this delineated by sequences within contig NT_008183 of subbands 8q11.22–q11.23. real‐time PCR–based copy number assay 20 hepatoblastomas revealed gain or eight tumors. The expression four genes and...
Nonsense, missense, and even silent mutation-associated exon skipping is recognized in an increasing number of genes as a novel form splicing mutation. The analysis individual mutations this kind can shed light on basic pre-mRNA mechanisms. Using cDNA-based mutation detection analysis, we have identified one missense six nonsense that lead to different extents exon-lacking transcripts neurofibromatosis type 1 (NF1) patients. We confirmed heterologous hybrid minigene context. There evidence...
Heterozygous germline mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 cause hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome, a dominantly inherited susceptibility syndrome. Recent reports provide evidence for novel recessively syndrome with constitutive MMR deficiency due to biallelic genes. MMR-deficiency (MMR-D) is characterized by childhood brain tumors, hematological and/or gastrointestinal malignancies, signs neurofibromatosis type 1...
Enzymatic loss in alkaptonuria (AKU), an autosomal recessive disorder, is caused by mutations the homogentisate 1,2 dioxygenase (HGD) gene, which decrease or completely inactivate function of HGD protein to metabolize homogentisic acid (HGA). AKU shows a very low prevalence (1:100,000-250,000) most ethnic groups, but there are countries with much higher incidence, such as Slovakia and Dominican Republic. In this work, we report 11 novel identified during analysis 36 patients 41 family...
Chromosome arm 11q amplifications involving the mixed lineage leukemia gene (MLL) locus are rare but recurrent aberrations in acute myeloid (AML) and myelodysplastic syndrome (MDS). We have recently shown that addition to MLL core amplicon, independent sequences 11q23-24 and/or 11q13.5 coamplified within same cytogenetic markers 90% 60% of patients, respectively. Here we further narrow down minimal amplicon 1.17 Mb by means semi-quantitative PCR FISH analyses. The newly defined contains...
Optic pathway gliomas (OPG) occur in 15% of patients with neurofibromatosis type 1 (NF1; OMIM 162200). Genotype-phenotype correlations NF1 may help to determine the risk group for developing complications such as OPG coincidence other NF1.features. We evaluated 52 (25 and 27 without OPG). All subjects underwent a clinical examination focused on molecular diagnostics gene using protocol based RNA analysis confirming diagnosis NF1. In patients, there was significantly higher incidence...
We performed a complex analysis of the neurofibromatosis type 1 (NF1) gene in Slovakia based on direct cDNA sequencing supplemented by multiple ligation dependent probe amplification (MLPA) analysis. All 108 patients had café-au-lait spots, 85% axilary and/or inguinal freckling, 61% neurofibromas, 36% Lisch nodules iris and 31% optic pathway glioma, 5% suffered from typical skeletal disorders, 51% family members with NF1. In 78 86 (90.7%) index our revealed presence NF1 mutations, 68 which...
Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure air and also leads ochronosis as well early osteoarthritis. Our objective the implementation of Precision Medicine (PM) approach AKU. We present here novel ApreciseKUre database facilitating collection, integration analysis patient data order create an AKU-dedicated "PM Ecosystem" which genetic, biochemical clinical resources can be shared...
Alkaptonuria (AKU) is an autosomal recessive disorder; caused by the mutations in homogentisate 1, 2-dioxygenase (HGD) gene located on Chromosome 3q13.33. AKU a rare disorder with incidence of 1: 250,000 to 1,000,000, but Slovakia and Dominican Republic have relatively higher 19,000. Our study focused studying frequency identification HGD nomads. sequencing was used identify alkaptonurics. For past four years, from subjects suspected be clinically affected, we found 16 positive cases among...
Abstract AML/MDS patients carrying 11q amplifications involving the mixed lineage leukemia gene ( MLL ) locus are characterized by a complex aberrant karyotype (CAK) frequently including deletions within 5q, 17p, and 7q, older age fast progression of disease with extremely poor prognosis. has been shown to be overexpressed in cases amplification. However, most cases, amplified region is not restricted locus. In this study, we investigated 19 gain/amplification. By means array CGH performed...
Abstract Amplification within chromosome arm 11q involving the mixed‐lineage leukemia gene ( MLL ) locus is a rare but recurrent aberration in acute myeloid and myelodysplastic syndrome (AML/MDS). We others have observed that amplifications most AML/MDS cases not been restricted to chromosomal region surrounding gene. Therefore, we implemented strategy characterize comprehensively amplicons series of 13 patients with amplification. Analysis 4 by restriction landmark genomic scanning...
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within gene coding for homogentisate 1,2-dioxygenase (HGD). To date, 251 different variants of this have been reported. The metabolic in AKU leads to the accumulation homogentisic acid (HGA), resulting ochronosis (pigmentation connective tissues) and severe ochronotic spondylo-arthropathy, which usually manifests mid-thirties. An earlier genotype–phenotype correlation study showed no differences serum HGA levels,...