Browsing by Subject "genetics"
Now showing items 1-20 of 617
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-572 G/C single nucleotide polymorphism of interleukin-6 and sepsis predisposition in chronic renal disease
(2015)Single nucleotide polymorphisms (SNPs) of interleukin (IL)-6 are associated with the development of chronic renal disease (CRD). Their impact for sepsis in the field of CRD was investigated. One control cohort of 115 ... -
The 5′ regulatory region of the human fetal globin genes is a gene conversion hotspot
(2008)The human fetal globin genes consist of the first mammalian genomic loci for which gene conversion was reported. To date, 14 gene conversions have been described in the human Gγ- and Aγ-globin genes, the vast majority of ... -
The -938C>A polymorphism in MYD88 is associated with susceptibility to tuberculosis: A pilot study
(2016)Introduction. Tuberculosis (TB) is a major disease worldwide, caused by Mycobacterium tuberculosis (MTB) infection.The Toll- Like Receptor (TLR) pathway plays a crucial role in the recognition of MTB. Aim. The present study ... -
Achilles, a new family of transcriptionally active retrotransposons from the olive fruit fly, with y chromosome preferential distribution
(2015)Sex chromosomes have many unusual features relative to autosomes. The in depth exploration of their structure will improve our understanding of their origin and divergence (degeneration) as well as the evolution of genetic ... -
Acquisition of optimal TFH cell function is defined by specific molecular, positional, and TCR dynamic signatures
(2021)The development of follicular helper CD4 T (TFH) cells is a dynamic process resulting in a heterogenous pool of TFH subsets. However, the cellular and molecular determinants of this heterogeneity and the possible mechanistic ... -
Acro-osteolysis
(2017)Acro-osteolysis is an osteolysis of the distal phalanges of the hands and feet and can affect the terminal tuft or the shaft of the distal phalanx (transverse or band acro-osteolysis). It is often associated with distal ... -
Activation of FADD-Dependent neuronal death pathways as a predictor of pathogenicity for LRRK2 mutations
(2016)Background Despite the plethora of sequence variants in LRRK2, only a few clearly segregate with PD. Even within this group of pathogenic mutations, the phenotypic profile can differ widely. Objective We examined multiple ... -
Age-related cognitive decline and associations with sex, education and apolipoprotein E genotype across ethnocultural groups and geographic regions: a collaborative cohort study
(2017)Background: The prevalence of dementia varies around the world, potentially contributed to by international differences in rates of age-related cognitive decline. Our primary goal was to investigate how rates of age-related ... -
Alpha-synuclein repeat variants and survival in parkinson's disease
(2014)Objectives: To determine whether α-synuclein dinucleotide repeat (REP1) genotypes are associated with survival in Parkinson's disease (PD). Methods: Investigators from the Genetic Epidemiology of Parkinson's Disease ... -
Altered DNA methylation pattern characterizes the peripheral immune cells of patients with autoimmune hepatitis
(2022)Background and Aims: Little is known about the impact of DNA methylation modifications on autoimmune hepatitis (AIH) pathogenesis and therapeutic response. We investigated the potential alterations of DNA methylation in ... -
Amino acid signatures in the HLA class II peptide-binding region associated with protection/susceptibility to the severe West Nile Virus disease
(2018)The MHC class II region in humans is highly polymorphic. Each MHC molecule is formed by an α and a β chain, produced by different genes, creating an antigen-binding groove. In the groove there are several pockets into which ... -
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
(2019)AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at ... -
AMY1 diploid copy number among end-stage renal disease patients
(2020)Purpose: The salivary amylase gene (AMY1) copy number variation (CNV) is increased as a human adaptation to starch-enriched nutritional patterns. The purpose of this study was to evaluate the relationship between AMY1 CNV, ... -
Analysis of ADORA2A rs5760423 and CYP1A2 rs762551 Genetic Variants in Patients with Alzheimer’s Disease
(2022)Various studies have been conducted, exploring the genetic susceptibility of Alzheimer’s disease (AD). Adenosine receptor subtype A2a (ADORA2A) and cytochrome P450 1A2 (CYP1A2) are implicated in pathways such as oxidative ... -
Anosmic flies: what Orco silencing does to olive fruit flies
(2020)Background: The olive fruit fly (Bactrocera oleae) is the most destructive pest of the olive cultivation worldwide causing significant production losses and olive fruit impoverishment, as its larvae feed exclusively on the ... -
Anthropogenic effects on bacterial diversity and function along a river-to-estuary gradient in Northwest Greece revealed by metagenomics
(2016)Studies assessing the effects of anthropogenic inputs on the taxonomic and functional diversity of bacterioplankton communities in lotic ecosystems are limited. Here, we applied 16S rRNA gene amplicon and whole-genome ... -
Anti-apoptotic and antioxidant activities of the mitochondrial estrogen receptor beta in n2a neuroblastoma cells
(2021)Estrogens are steroid hormones that play a crucial role in the regulation of the reproductive and non-reproductive system physiology. Among non-reproductive systems, the nervous system is mainly affected by estrogens due ... -
Anti-invasive effects of CXCR4 and FAK inhibitors in non-small cell lung carcinomas with mutually inactivated p53 and PTEN tumor suppressors
(2017)Non-small cell lung carcinoma (NSCLC) is the most common type of lung cancer. At the time of diagnosis, a large percentage of NSCLC patients have already developed metastasis, responsible for extremely high mortality rates. ... -
Antibiotic Resistance Patterns and mcr-1 Detection in Avian Pathogenic Escherichia coli Isolates from Commercial Layer and Layer Breeder Flocks Demonstrating Colibacillosis in Greece
(2021)Objectives: The aim of this study was to investigate the antimicrobial resistance (AMR) patterns of Escherichia coli strains isolated from poultry flocks suffering from colibacillosis in Greece and to detect the presence ... -
Anticancer and apoptosis-inducing effects of quercetin in vitro and in vivo
(2017)The present study focused on the elucidation of the putative anticancer potential of quercetin. The anticancer activity of quercetin at 10, 20, 40, 80 and 120 μM was assessed in vitro by MMT assay in 9 tumor cell lines ...