Auflistung Nach Schlagwort "genetic variability"
Anzeige der Dokumente 1-20 von 100
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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 ... -
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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 ... -
Analysis of SOD2 rs4880 Genetic Variant in Patients with Alzheimer’s Disease
(2022)A few gene loci that contribute to Alzheimer’s Disease (AD) onset have been identified. Few studies have been published about the relationship between SOD2 rs4880 single nucleotide variant and AD, revealing inconsistent ... -
An anatomical update on the morphologic variations of S1 and S2
(2010)Although percutaneous fixation with iliosacral screws has been shown to be a safe and reproducible method for sacroiliac dislocation and sacral fractures, it is a technically demanding technique, and one of its contraindications ... -
Ancestry of the Timorese: Age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world
(2015)We observed that the third leading cause of blindness in the world, age-related macular degeneration (AMD), occurs at a very low documented frequency in a population-based cohort from Timor-Leste. Thus, we determined a ... -
Antimicrobial resistance, flaa sequencing, and phylogenetic analysis of campylobacter isolates from broiler chicken flocks in greece
(2021)Human campylobacteriosis caused by thermophilic Campylobacter species is the most commonly reported foodborne zoonosis. Consumption of contaminated poultry meat is regarded as the main source of human infection. This study ... -
AQP4 tag SNPs in patients with intracerebral hemorrhage in Greek and Polish population
(2019)Backround: A relatively small number of genetic variants are implicated to pathophysiology of intracerebral hemorrhage (ICH). Aquaporin-4 (AQP4) has been reported to be implicated in the pathophysiological processes of ICH ... -
Assessment of TREM2 rs75932628 variant’s association with Parkinson’s disease in a Greek population and Meta-analysis of current data
(2021)Background: Α number of genetic variants are considered to confer susceptibility to Parkinson’s disease (PD). Rs75392628 (R47H), a rare variant of TREM2 gene, has been linked to PD, although its role on PD remains conflicting. ... -
Association between 9p21–23 Locus and Frailty in a Community-Dwelling Greek Population: Results from the Hellenic Longitudinal Investigation of Ageing and Diet
(2022)Background: Frailty is a complex geriatric syndrome arising from a combination of genetic and environmental factors and is associated with adverse health outcomes and mortality. A recent study reported an association between ... -
Association of maternal angiotensin II type 1 and type 2 receptor combination genotypes with susceptibility to early-onset preeclampsia
(2022)Allelic variations affecting the activity of the maternal renin-angiotensin system may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form, and intrauterine ... -
Association of maternal Toll-like receptor-4 alleles with susceptibility to early-onset preeclampsia in central Greece
(2019)Introduction: Altered maternal inflammatory responses may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form and intrauterine growth restriction. We ... -
Association of the Polygenic Risk Score With the Probability of Prodromal Parkinson’s Disease in Older Adults
(2021)Several studies have investigated the association of the Parkinson’s disease (PD) polygenic risk score (PRS) with several aspects of well-established PD. We sought to evaluate the association of PRS with the prodromal stage ... -
BAFF receptor polymorphisms and deficiency in humans
(2021)The BAFF-receptor (BAFFR) is a member of the TNF-receptor family. It is expressed only by B cells and binds BAFF as single ligand, which activates key signaling pathways regulating essential cellular functions, including ... -
Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus
(2017)Bone mineral density is known to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation remain largely unknown. We estimated the shared SNP heritability and performed a bivariate GWAS ... -
Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle): The CUMAGAS-BMD information system
(2011)The focal adhesion, the actin cytoskeleton and cell-cycle are connected pathways and their genes are implicated in the pathogenesis of low BMD. Data from 211 studies that investigated the association between BMD and gene ... -
BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects
(2020)Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, ... -
Cerebral and non-cerebral coenurosis: on the genotypic and phenotypic diversity of Taenia multiceps
(2016)We characterised the causative agents of cerebral and non-cerebral coenurosis in livestock by determining the mitochondrial genotypes and morphological phenotypes of 52 Taenia multiceps isolates from a wide geographical ... -
Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: AN international consensus statement
(2015)Parkinson disease (PD) is associated with a clinical course of variable duration, severity, and a combination of motor and non-motor features. Recent PD research has focused primarily on etiology rather than clinical ... -
The contribution of genetic variants of SLC2A1 gene in t2dm and T2DM-nephropathy: Association study and meta-analysis
(2018)An association study was conducted to investigate the relation between 14 variants of glucose transporter 1 gene (SLC2A1) and the risk of type 2 diabetes (T2DM) leading to nephropathy. We also performed a meta-analysis of ...