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Article
Open AccessUnderstanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations
Large-scale copy number variants (CNVs) are structural alterations in the genome that involve the duplication or deletion of DNA segments, contributing to genetic diversity and playing a crucial role in the ev...
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Article
Open AccessGut diversity and the resistome as biomarkers of febrile neutropenia outcome in paediatric oncology patients undergoing hematopoietic stem cell transplantation
The gut microbiota of paediatric oncology patients undergoing a conditioning regimen before hematopoietic stem cell transplantation is recently considered to play role in febrile neutropenia. Disruption of com...
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Article
Open AccessAnalysis of transcriptomics data from COVID-19 patients: a pilot research
During SARS-CoV-2 infection, the virus transforms the infected host cell into factories that produce new viral particles. As infection progresses, the infected cells undergo numerous changes in various pathway...
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Article
Open AccessCombination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations
Clinical interpretation of copy number variants (CNVs) is a complex process that requires skilled clinical professionals. General recommendations have been recently released to guide the CNV interpretation bas...
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Article
Open AccessTrends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022
The inability to predict the evolution of the COVID-19 epidemic hampered abilities to respond to the crisis effectively. The cycle threshold (Ct) from the standard SARS-CoV-2 quantitative reverse transcription...
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Article
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia
Mutations in the GJB2 gene are known to be a major cause of autosomal recessive deafness 1A (OMIM 220290). The most common pathogenic variants of the GJB2 gene have a high ethno-geographic specificity in their di...
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Article
Open AccessDilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report
ACAT-related enzyme 2 required for viability 1 (ARV1) encodes a transmembrane lipid transporter of the endoplasmic reticulum, which is presented in all eukaryotes and in plants. Deficiency of ARV1 is clinically p...
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Article
Comparative analysis of monozoic fish tapeworms Caryophyllaeus laticeps (Pallas, 1781) and recently described Caryophyllaeus chondrostomi Barčák, Oros, Hanzelová, Scholz, 2017, using microsatellite markers
The monozoic tapeworm Caryophyllaeus laticeps has been characterized by five markedly different morphotypes largely corresponding to different fish hosts. Recently, the most distinct morphotype 4 from the common ...
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Article
ICAM1 gene polymorphism in late-onset Alzheimer’s disease
Intercellular Adhesion Molecule-1 (ICAM-1) is a cell surface glycoprotein with possible involvement in the pathogenesis of Alzheimer’s disease (AD). Therefore, sequence variations in the ICAM1 gene affecting ICAM...
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Article
Open AccessDecreased methylation in the SNAI2 and ADAM23 genes associated with de-differentiation and haematogenous dissemination in breast cancers
In breast cancer (BC), deregulation of DNA methylation leads to aberrant expressions and functions of key regulatory genes. In our study, we investigated the relationship between the methylation profiles of ge...
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Article
Detection of mutations in the BRAF gene in patients with KIT and PDGFRA wild-type gastrointestinal stromal tumors
Gastrointestinal stromal tumors (GISTs) are characterized by mutations in exons 9, 11, 13, and 17 of KIT or exons 12, 14, and 18 of PDGFRA gene. However, approximately 10 to 15 % of GISTs lack the mutations in KI...
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Article
Open AccessCandidate gene studies of diabetic retinopathy in human
Diabetic retinopathy (DR) is a multifactorial disease with complex pathophysiology. It is the main cause of blindness among the people in productive age. The purpose of this literature review is to highlight r...
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Article
Open AccessPopulation structure and dispersal routes of an invasive parasite, Fascioloides magna, in North America and Europe
Fascioloides magna (Trematoda: Fasciolidae) is an important liver parasite of a wide range of free-living and domestic ruminants; it represents a remarkable species due to its large sp...
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Article
Open AccessGenetic interrelationships of North American populations of giant liver fluke Fascioloides magna
Population structure and genetic interrelationships of giant liver fluke Fascioloides magna from all enzootic North American regions were revealed in close relation with geographical distribution of its obligate ...
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Article
Development of microsatellite markers in Caryophyllaeus laticeps (Cestoda: Caryophyllidea), monozoic fish tapeworm, using next-generation sequencing approach
Caryophyllaeus laticeps (Pallas 1781) (Cestoda: Caryophyllidea) is a monozoic tapeworm of cyprinid fishes with a distribution area that includes Europe, most of the Palaearctic Asia and northern ...
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Article
Single Consumption of Bryndza Cheese Temporarily Affects Oral Microbiota and Salivary Markers of Oxidative Stress
Several oral diseases are associated with changes in oral microbiota and higher oxidative stress. Enterococcus faecalis has been hypothesized to directly contribute to the oxidative stress in oral cavity. The ai...
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Article
Open AccessMatrix metalloproteinase 1 and circulating tumor cells in early breast cancer
Matrix metalloproteinases (MMPs) are involved in cancer invasion and metastasis. Circulating tumor cells (CTCs) play role in tumor dissemination and are an independent survival predictor in breast cancer (BC) ...
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Article
Open AccessFragmentation of DNA affects the accuracy of the DNA quantitation by the commonly used methods
Specific applications and modern technologies, like non-invasive prenatal testing, non-invasive cancer diagnostic and next generation sequencing, are currently in the focus of researchers worldwide. These have...
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Article
Food-borne enterococci and their resistance to oxidative stress
Enterococci are important food-borne pathogens that cause serious infections. Several virulence factors have been described including aggregation substance, gelatinase, cytolysin, and enterococcal surface prot...
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Article
Development of high-resolution melting (HRM) analysis for population studies of Fascioloides magna (Trematoda: Fasciolidae), the giant liver fluke of ruminants
The high-resolution melting (HRM) technique was successfully optimized as fast and effective method for population study of digenetic fluke, Fascioloides magna (Trematoda: Fasciolidae), originally North American ...
