Árpád Ferenc Kovács- MD PhD
- Assistant Lecturer at Semmelweis University
Árpád Ferenc Kovács
- MD PhD
- Assistant Lecturer at Semmelweis University
About
46
Publications
12,284
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13,403
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Introduction
Clinical genetics,
Genome diagnostics,
Gene therapy,
Single cell transcriptomics,
Single cell sorting and clone selection
Human regulatory T cell differentiation
Flow cytometry
Holomicroscopy
Current institution
Additional affiliations
May 2022 - present
September 2021 - present
July 2019 - present
Publications
Publications (46)
Regulatory T cells (Treg) are mandatory elements in the maintenance of human pregnancy, but their de novo differentiation has not been completely exposed. HSPE1 chaperone expressing trophoblast cells may have a role in it. Trophoblast-derived extracellular vesicles (EVs), either at the feto–maternal interface or in circulation, target CD4⁺ T cells....
Fabry disease is characterized by an X chromosome linked inheritance and disease-causing variations in the alpha -
galactosidase gene. These gene variations lead to either galactosidase alpha enzyme instability, decreased enzymatic
activity or lack of the enzyme, which subsequently cause glycosphingolipid accumulation. Due to glycosphingolipid
depo...
Fabry-disease is the most common lysosomal storage disease, caused by pathogenic variants in the GLA gene localized
on chromosome X. Due to pathogenic variants the absent/decreased bioactivity of alpha-galactosidase A enzyme
occurs, which results in glycosphingolipid accumulation. The pathological glycosphingolipid accumulation causes
irreversible...
The ultimate and most complex form of treating human diseases is embodied by gene therapy. For an effective gene therapeutic product we need to hack the cellular plasma membrane entry-system, then escaping degradation in the cytosol and in most cases, we need an efficient hacking of the nuclear membrane-system, achieving the delivery of genetic con...
Background: Fabry disease is a progressive, X chromosome-linked lysosomal storage disorder with multiple organ dysfunction. Due to the absence or reduced activity of alpha-galactosidase A (AGAL), glycosphingolipids, primarily globotriaosyl-ceramide (Gb3), concentrate in cells. In heterozygous women, symptomatology is heterogenous and currently rout...
Background
Silver–Russell syndrome (SRS) is a rare congenital growth disorder which is associated with molecular alterations affecting imprinted regions on chromosome 11p15 and maternal uniparental disomy of chromosome 7 (upd(7)mat). In 11p15, imprinted regions contributing to the SRS phenotype could be identified, whereas on chromosome 7 at least...
Introduction
Light exposure of embryos during assisted reproduction affects embryo quality and implantation capacity in a wavelength dependent manner. We investigated the molecular mechanism of these light-induced changes through the comparative analysis of gene expression and regulatory miRNA profile of murine embryos cultured in dark environment...
A gyermekkori cytopeniák döntő többsége átmeneti, leginkább szekunder jelenség, és nem primer csontvelői folyamatok következménye. Mégis néhány havonta találkozunk olyan betegekkel a Magyar Gyermekonkológiai Hálózat kötelékébe tartozó gyermekhematológiai centrumokban, akiknél többszöri csontvelői mintavétel és széles körű laboratóriumi hematológiai...
A hipertrófiás cardiomyopathia (HCM) egy genetikai eredetű szívizombetegség, amelyet fogamzóképes nők körében egyre gyakrabban diagnosztizálnak a fejlett szűrőprogramoknak és echokardiográfiás technológiáknak köszönhetően. Bár a várandósság körükben általában jól tolerálható, a várandósságban kialakuló hemodinamikai változások növelhetik a szövődmé...
To assess the suitability of genome sequencing (GS) as the second step in the diagnostics of patients with the features of 11p15.5‐associated imprinting disorders (ImpDis: Silver–Russell syndrome [SRS], Beckwith–Wiedemann syndrome [BWS]), we performed short‐read GS in patients negatively tested for imprinting disturbances. Obtaining a genetic diagn...
RASopathies are congenital diseases that manifest in childhood with symptoms and potential complications, typically associated with an elevated tumour predisposition risk. The heterogeneous symptoms involve mostly central nervous, cardiovascular, musculoskeletal systems and skin, and modified growth pattern. From molecular perspective, the function...
Gene therapy procedures are complex treatments that directly
affect the functioning of a patient’s hereditary material.
These medicines are the most precise and effective therapies
for certain diseases. Their significance beside rare inheritable
diseases will hopefully be expanded toward tumor, infectious
and chronic diseases. In the first part we...
There is a deep need to navigate within our genomic data to find, understand and pave the way for disease-specific treatments, as the clinical diagnostic journey provides only limited guidance. The human genome is enclosed in every nucleated cell, and yet at the single-cell resolution many unanswered questions remain, as most of the sequencing tech...
Objectives:
An imbalanced redox homeostasis resulting in oxidative stress is present in preeclampsia. Peroxiredoxin-1 (PRDX1) and thioredoxin-1 (TRX1) regulatory enzymes are also contributing to the redox homeostasis, but were not investigated so far in preeclampsia. Thus, we have aimed to characterize PRDX1, TRX1 and oxidative stress biomarkers i...
Purpose:
Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon the availability of genome sequencing, it is expected that involvement of SVs in IRDs is higher than anticipated. We revisited short-read genome sequencing data to enhance the identification...
Characterized by both intrauterine and postnatal growth retardation, and consequent small stature, Silver-Russell syndrome is associated with typical minor anomalies (relative macrocephalia, protruding forehead, downturned corners of mouth, micrognathia, low set ears, facial, skeletal and limb asymmetry) and findings involving mainly the endocrine...
Összefoglaló. Bevezetés: A sokszínű tünetspektrummal jellemezhető DiGeorge-szindróma leggyakoribb oka a 22q11.2-microdeletio; incidenciája 1/4000-6000. Célkitűzés: A DiGeorge-szindrómára gyanús hazai betegcsoport 22q11.2-microdeletióval társult tüneteinek/panaszainak részletes feltérképezése, a betegség incidenciájának becslése és egy magyarországi...
Összefoglaló. Bevezetés: A sokszínű tünetspektrummal jellemezhető DiGeorge-szindróma leggyakoribb oka a 22q11.2-microdeletio; incidenciája 1/4000–6000. Célkitűzés: A DiGeorge-szindrómára gyanús hazai betegcsoport 22q11.2-microdeletióval társult tüneteinek/panaszainak részletes feltérképezése, a betegség incidenciájának becslése és egy magyarországi...
It has previously been shown that preeclampsia is associated with disturbed hemostasis and that extracellular vesicles (EVs) play important role in the regulation of hemostatic homeostasis. Thus, we hypothesized that the altered procoagulant characteristics of circulating platelet-derived EVs may contribute to the disturbed hemostasis in preeclamps...
Lysosomal storage diseases represent an important group of inborn error of metabolism. Until now, more than 70 inheritable
lysosomal disorders have been identified, and as a common feature, they are characterized by subclinical chronic
inflammation. In our review, we depict the immunological aspects of three lysosomal storage disorders, Fabry disea...
Earlier data suggest that progesterone-induced blocking factor (PIBF) is involved in implantation. The present study therefore aims to investigate the consequences of functional PIBF deficiency during the peri-implantation period. CD1 female mice were injected intraperitoneally with 2 μg anti-PIBF monoclonal antibody on days 1.5 and 4.5 of pregnanc...
Stem cell-based therapies raise hope for cell replacement and provide opportunity for cardiac regenerative medicine and tumor therapy. Extracellular vesicles are a membrane-enclosed intercellular delivery system with the potential to improve the therapeutic efficacy of the treatment of a variety of disorders. As the incidence of breast cancer conti...
Galectins are potent immunomodulators that regulate maternal immune responses in pregnancy and prevent the rejection of the semi-allogeneic fetus that also occurs in miscarriages. We previously identified a gene cluster on Chromosome 19 that expresses a subfamily of galectins, including galectin-13 (Gal-13) and galectin-14 (Gal-14), which emerged i...
Introduction: Regulatory T cell (Treg) signature is composed of cell clusters of discrete states dispersed in a continuum gravitating around four different well-definable functional poles. The cell number and function of memory Treg cells is of key question, as these cells promote reproductive fitness during human pregnancy by reinforcing immune to...
Extracellular vesicles (EVs) are membrane-enclosed structures secreted by cells. In the past decade, EVs have attracted substantial attention as carriers of complex intercellular information. They have been implicated in a wide variety of biological processes in health and disease. They are also considered to hold promise for future diagnostics and...
The last decade has seen a sharp increase in the number of scientific publications describing physiological and pathological functions of extracellular vesicles (EVs), a collective term covering various subtypes of cell-released, membranous structures, called exosomes, microvesicles, microparticles, ectosomes, oncosomes, apoptotic bodies, and many...
The last decade has seen a sharp increase in the number of scientific publications describing physiological and pathological functions of extracellular vesicles (EVs), a collective term covering various subtypes of cell-released, membranous structures, called exosomes, microvesicles, microparticles, ectosomes, oncosomes, apoptotic bodies, and many...
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
Our study analyzed lymphocyte subpopulations of 32 monozygotic twins and compared the level of the catalytic reverse transcriptase protein subunit (hTERT) in T lymphocytes (Tly), helper- (Th), cytotoxic- (Tc) and regulatory T cell (Treg) subgroups. Four variables related to telomere and mitochondrial biology were simultaneously assessed, applying m...
Intercellular communication via extracellular vesicles (EVs) and their target cells, especially immune cells, results in functional and phenotype changes that consequently may play a significant role in various physiological states and the pathogenesis of immune-mediated disorders. Monocytes are the most prominent environment-sensing immune cells i...
The last decade has seen a sharp increase in the number of scientific publications describing physiological and pathological functions of extracellular vesicles (EVs), a collective term covering various subtypes of cell-released, membranous structures, called exosomes, microvesicles, microparticles, ectosomes, oncosomes, apoptotic bodies, and many...
Introduction: Extracellular vesicles are emerging sources of biomarkers for modern preventive and precision medicine. Extracellular vesicles in body fluids offer a unique opportunity for integrative biomarker approaches due to their complex biocargo that includes proteins, lipids, nucleic acids and metabolites. Mass spectrometry-based proteomics da...
Background: Extracellular vesicles (EVs) produced by living cells are abundant in body fluids. They have a significant role in the intercellular cross-talk. The cellular origin of circulating EVs is characteristic for pregnancy complications and may determine their regulatory effects on maternal immune system.
Aim: The aim of our study was identif...
Presentation at XXI Scientific Student Conference
Poster presented at ESC-Berlin
Presentation at XX. Scientific Students conference
