A5042428811- CRISPR and Genetic Engineering
- Virus-based gene therapy research
- RNA Interference and Gene Delivery
- Hemoglobinopathies and Related Disorders
- Antiplatelet Therapy and Cardiovascular Diseases
- Lipoproteins and Cardiovascular Health
- Iron Metabolism and Disorders
- Viral gastroenteritis research and epidemiology
- Cystic Fibrosis Research Advances
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Muscle metabolism and nutrition
- Genetics and Physical Performance
- Cardiovascular Effects of Exercise
- Inflammatory mediators and NSAID effects
- Inflammasome and immune disorders
- Research on Leishmaniasis Studies
- Folate and B Vitamins Research
- Neonatal Respiratory Health Research
- Nuclear Receptors and Signaling
- Coronary Interventions and Diagnostics
- Erythrocyte Function and Pathophysiology
- Platelet Disorders and Treatments
- Asthma and respiratory diseases
University of Patras
2012-2023
Hellenic Open University
2018
RMIT University
2010
Genetic alterations in the alpha-synuclein (SNCA) gene have been implicated Parkinson Disease (PD), including point mutations, multiplications, and sequence variations within promoter. Such may be involved pathology through structural changes or overexpression of protein leading to aggregation, as well impaired expression. It is, therefore, importance specify parameters that regulate SNCA expression its normal mutated state. We studied alleles a lymphoblastoid cell line blood cells patient...
Aim: In humans, fetal hemoglobin (HbF) production is controlled by many intricate mechanisms that, to date, remain only partly understood. Patients & methods: Pharmacogenomic analysis of the effects hydroxyurea (HU) on HbF was undertaken in a collection Hellenic βthalassemia and sickle cell disease (SCD) compound heterozygotes healthy KLF1-haploinsufficient Maltese adults, identify genomic signatures that follow high patterns. Results: KLF10 emerged as top candidate. Moreover, genotype major...
Nonviral and nonintegrating episomal vectors are reemerging as a valid, alternative technology to integrating viral for gene therapy, due their more favorable safety profile, significantly lower risk insertional mutagenesis, lesser potential innate immune reactions, in addition low production cost. Over the past few years, attempts have been made generate highly functional nonviral that display long-term maintenance within cells promote sustained expression relative conventional plasmids....
Aim: In this study we explored the association between genetic variations in MAP3K5 and PDE7B genes, residing on chromosome 6q23, disease severity β-hemoglobinopathy patients, as well these variants with response to hydroxyurea (HU) treatment. Furthermore, examined expression context of high fetal hemoglobin (HbF) upon HU treatment erythroid progenitor cells from healthy KLF1 haploinsufficient individuals. Materials & methods: For purpose, genotyped β-thalassemia intermedia major patients...
The rs2071348 (g.5264146A>C) polymorphism on the HBB pseudogene, namely HBBP1, previously emerged as a variant significantly associated with milder disease phenotype in Asian β(0)-thalassemia/hemoglobin (Hb) E (β(0)-thal/Hb [β26(B8)Glu→Lys, GAG>AAG]) patients. In this study, we aimed to explore possible association of β-thalassemia (β-thal) severity group β-thal major (β-TM) patients (severe phenotype) and intermedia (β-TI) (mild Hellenic origin compare results normal (non thalassemic)...
Abstract Specific human chromosomal elements enhance the performance of episomal gene-transfer vectors. S/MAR-based vector pEPI-eGFP transfects CD34 + haematopoietic cells, but only transiently. To address this issue we reinforced (1) transgene transcription by replacing CMV promoter driving eGFP with EF1/HTLV or SFFV promoters to produce vectors pEPI-EF1/HTLV and pEPI-SFFV, respectively; (2) plasmid replication inserting replication-Initiation Region (IR) from β-globin locus into pEPI-SFFV...
β-Thalassemia (β-thal), is caused by reduced or absent synthesis of β-globin chains resulting in impaired erythropoiesis. It the most common single gene defect disease Greece, with heterozygous rates reaching, on average, 8% general population. Here, we performed molecular analyses 199 unrelated β-thal and compound β-thal/sickle cell patients, whom 157 originated from three prefectures South-Western namely Achaia, Ilia Etoloakarnania.
We aimed to clarify the emerging epigenetic landscape in a group of genes classified as "modifier genes" β-type globin (HBB cluster), known operate trans accomplish two natural developmental switches expression, from embryonic fetal during first trimester conception and adult around time birth. The alterations were determined sickle cell anemia (SCA) homozygotes SCA/β-thalassemia compound heterozygotes Greek origin, who are under hydroxyurea (HU) treatment. Patients distinguished HU...
Newborns delivered late-preterm (between 340/7 and 366/7 weeks of gestation) are at increased risk respiratory distress syndrome (RDS). Polymorphisms within the surfactant protein (SP) A B gene have been shown to predispose RDS in preterm neonates. The aim this study was investigate whether specific SP-A and/or SP-B genetic variants also associated with infants born late-preterm.This prospective cross-sectional included 56 60 without RDS. Specific SP-A1/SP-A2 haplotypes Ile131Thr polymorphic...
Abstract We report the development of episomal vectors for specific γ-globin transcription activation in its native position by activator Zif-VP64, based on Scaffold/Matrix Attachment Region (S/MAR) retention and β-globin Replicator , DNA replication-Initiation from locus. Vector Zif-VP64-Ep1 containing cassettes CMV- Zif-VP64 CMV-eGFP-S/MAR transfected a)K562 cells; b)murine β-YAC bone marrow cells (BMC); c)human haematopoietic progenitor CD34 + cells, with transfection efficiencies 46.3 ±...
We describe a case of 34-year-old woman with chronic renal failure under haemodialysis. The patient exhibited high on-treatment platelet reactivity to gradually stronger thienopyridine regimens, including standard and maintenance doses prasugrel. Platelet function was monitored by VerifyNow assay genotyping for various single-nucleotide polymorphisms performed. Treatment ticagrelor 180 mg/day effective in reducing the reactivity.
Angiotensin converting enzyme (ACE) gene contains a polymorphism, consisting of either the presence (I) or absence (D) 287 base pair fragment. Deletion is associated with increased circulating ACE (cACE) activity. It has been suggested that D-allele genotype power-oriented performance and cACE activity correlated muscle strength. Respiratory function may be similarly influenced. strength in infants can assessed specifically by measurement maximum inspiratory pressure during crying (Pimax)....
Objective Angiotensin-converting enzyme (ACE) gene contains a polymorphism consisting of either the presence (I) or absence (D) 287-bp fragment. Recent studies have suggested that I-allele may be associated with superior exercise endurance; respiratory muscle function similarly influenced. The pressure–time index inspiratory muscles (PTImus) is measure load–capacity ratio muscles. objective this study was to determine whether infants homozygous for lower PTImus compared D-allele heterozygous...
This study explores the potential of gene polymorphisms in canonical and noncanonical NF-kB signaling pathway as a prediction biomarker anti-tumor necrosis factor (TNF)α response Crohn's patients.A total 109 Greek patients with disease (CD) were recruited, genotype TLR2 rs3804099, LTA rs909253, TLR4 rs5030728, MAP3K14/NIK rs7222094 single nucleotide was investigated for association to anti-TNFα therapy. Patient's therapy based on Disease Activity Index, depicting maximum within 24 months...
Background: Processed sewage waste often contain residual pathogenic viruses, bacteria, cysts of protozoa but most sewage-related disease outbreaks have been attributed to re-use raw water, sludge, or night soils on food crops consumed raw, contamination drinking water from septic tanks, consumption shellfish sewage-polluted waters use contaminated recreational water. Regardless the improvement in sanitary conditions urbanised areas, infectious diseases caused by viruses reported year year....
The 11th International Symposium on Mutations in the Genome was held 6-10 June, 2011, Santorini, Greece. Meeting participants described novel detection technologies, rapid advances whole genome and whole-exome sequencing, but also highlighted urgent need for development of sequence variation databases clinical interpretation genomic data. This report summarizes some major themes presented during meeting.