A5057832169- Hungarian Social, Economic and Educational Studies
- Amyotrophic Lateral Sclerosis Research
- Digestive system and related health
- Insects and Parasite Interactions
- Pediatric health and respiratory diseases
- Neurogenetic and Muscular Disorders Research
- Respiratory and Cough-Related Research
- Congenital Heart Disease Studies
- Congenital heart defects research
- Nutrition, Genetics, and Disease
- Tumors and Oncological Cases
- Connective tissue disorders research
- Sympathectomy and Hyperhidrosis Treatments
- Parasitic Infections and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Diet and metabolism studies
- Asthma and respiratory diseases
- Retinal Development and Disorders
- Neonatal and fetal brain pathology
- Genetic and rare skin diseases.
- Cystic Fibrosis Research Advances
- Hedgehog Signaling Pathway Studies
- Cancer-related gene regulation
- Research Data Management Practices
University of Szeged
2011-2024
Johannes Kepler University of Linz
2022-2023
Royal Adelaide Hospital
2019
The University of Adelaide
2019
HUN-REN Szegedi Biológiai Kutatóközpont
2009-2018
Hungarian Academy of Sciences
2009-2018
Institute of Biochemistry
2018
Institute of Genetics
2009
San Francisco State University
1995
California Pacific Medical Center
1994
Abstract The distribution of reactive astrocytes was examined in the cortical gray matter non‐motor and motor regions from cases familial sporadic amyotrophic lateral sclerosis (ALS) compared to that β‐amyloid deposits. By glial fibrillary acidic protein immunocytochemistry, patches astrocytes, characterized by multiple a circular or patch‐like formation, occurred 12 15 ALS examined. These were not restricted cortex but found all brain regions, including frontal, temporal, inferior parietal,...
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the degeneration of motor neurons. Genetic factors play key role in ALS, and identifying variants that contribute to ALS susceptibility an important step toward understanding etiology disease. The frequency protein altering patients has been extensively investigated populations different ethnic origin. To further delineate genetic architecture Hungarian patients, we aimed detect potentially...
Abstract The prevalence of adult‐type hypolactasia varies ethnically and geographically among populations. A C/T–13910 single nucleotide polymorphism (SNP) upstream the lactase gene is known to be associated with non‐persistence in Europeans. aim this study was determine persistent non‐persistent genotypes current Hungarian‐speaking populations ancient bone samples classical conquerors commoners from 10th–11th centuries Carpathian basin; 181 present‐day Hungarian, 65 Sekler, 23 were...
Neurofibromatosis type 1 is a tumor predisposition syndrome inherited in autosomal dominant manner. Besides the intragenic loss-of-function mutations NF1 gene, large deletions encompassing gene and its flanking regions are responsible for development of variable clinical phenotype. These titled as microdeletions lead to more severe phenotype than those observed patients with mutations. Around 5-10% cases harbor deletion four major types (type 1, 2, 3 atypical) have been identified so far....
POGZ-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely among POGZ patients studies investigating genotype-phenotype association are scarce. Therefore, our aim was to collect data on previously unreported perform large-scale phenotype-genotype comparison from published data. Overall, 117 patients' genotype phenotype were included in the analysis, including 12 novel...
Toxocara infection is associated with an increased prevalence of airway symptoms and may be a possible aetiologic agent chronic cough. The occurrence toxocariasis in Hungary mild and/or sporadic. purpose this study was to investigate the levels serum cytokines (IL-1, IL-2, IL-4, IL-5, IL-6, IL-10, IL-13, IFN-gamma TNF-alpha) total IgE, blood eosinophil count, results skin prick non-specific bronchus provocation tests Toxocara-seropositive children cough relative those healthy controls....
Abstract Objective To assess the performance of a newly developed skin wipe test (SWT) for diagnosis cystic fibrosis (CF). Study Design Spontaneously formed sweat from forearm was wiped by cotton swab moistened with 100 µL deionized (DI) water and extracted into 400 DI (SWT). The conventional Macroduct (ST) performed simultaneously. SWT samples 114 CF patients, 76 healthy carriers, 58 controls were analyzed capillary electrophoresis contactless conductivity detection Cl − /K + (Cl Na )/K ion...
Chronic cough lasting 8 weeks or more often seems to be an intractable problem in childhood. Toxocara infection is associated with increased prevalence of airway symptoms and may the possible aetiological agent chronic cough. Of 425 children aged 2-17 years who were investigated for toxocariasis distribution bronchial asthma (BA), variant (CVA) non-asthmatic eosinophilic bronchitis (NAEB), 136 (32%) seropositive canis antigens. Ninety-three adequately assessed, diagnosed followed up during 1...
Hypertriglyceridemia is not only a serious risk factor in the development of cardiovascular diseases, but it linked to neurodegeneration, too. Previously, we generated transgenic mice overexpressing human APOB-100 protein, mouse model atherosclerosis. In this observed high plasma levels triglycerides, oxidative stress, tau hyperphosphorylation, synaptic dysfunction, cognitive impairment, increased neural apoptosis and neurodegeneration. Neurovascular dysfunction recognized as key...
Abstract Introduction Mutations in the angiogenin ( ANG ) gene are known to be associated with both familial and sporadic amyotrophic lateral sclerosis (ALS). The majority of disease‐causing mutations result loss either ribonucleolytic activity, nuclear translocation activity or both. Methods We sequenced from a total 136 ALS patients 112 healthy controls Hungarian origin. To elucidate role R33W mutation disease mechanism, computational, functional analyses were performed. Results Mutation...
Abstract Purpose We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, 16-year-old male patient, who developed global developmental delay, cognitive impairment, behavioral problems, short stature, intermittent headaches, recurrent dizziness, strabismus, hypermetropia, complex movement disorder and partial pituitary dysfunction. After years of detailed clinical investigations careful pediatric care, exact diagnosis patient cause was still...
Vertebral compression fractures (VFs) are a common and severe finding in patients with osteoporosis. In children, VFs have the unique potential to reshape regain their original configuration. Spontaneous vertebral body reshaping (i.e., medication-unassisted) has been reported secondary Here we describe previously unreported spontaneous an adolescent osteogenesis imperfecta (OI) multiple fractures.A 17-year-old female was diagnosed OI type I at 5 years of age caused by novel frameshift...
Hearing loss is the most prevalent sensory disorder worldwide. The majority of congenital nonsyndromic hearing (NSHL) cases are caused by hereditary factors. Previously, NSHL studies focused on GJB2 gene; however, with availability next-generation sequencing (NGS) methods, number novel variants associated has increased. purpose this study was to design effective genetic screening for a Hungarian population based pilot 139 patients. A stepwise, comprehensive approach developed, including...
We present here the case histories of two siblings, a boy and girl, with Leber’s congenital amaurosis (LCA). The diagnosis was based on non-recordable full-field electroretinogram (ffERG). long-term ophthalmologic follow-up included kinetic perimetry (Goldmann), visual evoked potentials flash stimulation, optical coherence tomography (OCT: B-scan images at area fovea), multifocal ERG. (sibling 1, born in 1986) sent for electrophysiological examination age four because he had nystagmus from...
Congenital heart defects (CHD) are the most common developmental abnormalities, affecting approximately 0.9% of livebirths. Genetic factors, including copy number variations (CNVs), play an important role in their development. The CNVs found on chromosome 22q11.2. genomic instability this region, caused by eight low repeats (LCR A-H), may result several recurrent and/or rare microdeletions and duplications, common, ∼3 Mb large LCR A-D deletion (classical 22q.11.2 syndrome). We aimed to...