Parcourir par sujet "gene"
Voici les éléments 1-20 de 137
-
An Activating Janus kinase-3 mutation is associated with cytotoxic T lymphocyte antigen-4-dependent Immune dysregulation syndrome
(2017)Heterozygous mutations in the cytotoxic T lymphocyte antigen-4 (CTLA-4) are associated with lymphadenopathy, autoimmunity, immune dysregulation, and hypogammaglobulinemia in about 70% of the carriers. So far, the incomplete ... -
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 ... -
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, ... -
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 ... -
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 ... -
Antimicrobial resistance genes in ESBL-producing escherichia coli isolates from animals in Greece
(2021)The prevalence of multidrug resistant, extended spectrum -lactamase (ESBL)-producing Enterobacteriaceae is increasing worldwide. The present study aimed to provide an overview of the multidrug resistance phenotype and ... -
Apolipoprotein E Polymorphism and Left Ventricular Failure in Beta-Thalassemia: A Multivariate Meta-Analysis
(2017)Apolipoprotein E (ApoE) is potentially a genetic risk factor for the development of left ventricular failure (LVF), the main cause of death in beta-thalassemia homozygotes. In the present study, we synthesize the results ... -
Apolipoprotein ϵ4 allele is associated with frailty syndrome: Results from the hellenic longitudinal investigation of ageing and diet study
(2019)Apolipoprotein (APOE) ϵ4 allele has been associated with a number of age-related diseases but previous studies failed to identify any link with Frailty syndrome. The aim of the present study is to investigate the association ... -
Aspects of hereditary angioedema genotyping in the era of NGS: The case of F12 gene [Wybrane aspekty genotypowania wrodzonego obrzȩku naczynioruchowego w erze NGS: Gen F12]
(2018)Objective. To screen a cohort of patients diagnosed with non-FXII angioedema for carriage of variants of F12 gene. Material and methods. DNA samples from 191 patients suffering from primary angioedema with normal C1-INH, ... -
Assessment of insertion/deletion polymorphism of the angiotensin-converting enzyme gene in abdominal aortic aneurysm and inguinal hernia
(2013)The aim of the paper is to determine whether the angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism is associated with abdominal aortic aneurysm (AAA) and inguinal hernia. A case-control study ... -
Association analysis of FTO gene polymorphisms with obesity in Greek adults
(2017)Nowadays, obesity is the greatest scourge worldwide, particularly for the developed countries and is a huge burden for the public health. Over the past decade, GWAS have revealed a number of genes associated with obesity. ... -
Association of ITPA gene polymorphisms with adverse effects of AZA/6-MP administration: a systematic review and meta-analysis
(2022)Azathioprine (AZA) and its metabolite, mercaptopurine (6-MP), are widely used immunosuppressant drugs. Polymorphisms in genes implicated in AZA/6-MP metabolism, reportedly, could account in part for their potential toxicity. ... -
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 ... -
The autophagic response to oxidative stress in osteoarthritic chondrocytes is deregulated
(2018)It has been reported that oxidative stress (OS) is involved in the pathogenesis of osteoarthritis (OA) and that defective autophagy is accompanying this age-related disease. Moreover, it has been proposed that induction ... -
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 ... -
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, ... -
Bridging plant and human radiation response and DNA repair through an in silico approach
(2017)The mechanisms of response to radiation exposure are conserved in plants and animals. The DNA damage response (DDR) pathways are the predominant molecular pathways activated upon exposure to radiation, both in plants and ... -
Chromogenic in situ Hybridization Analysis of EGFR Gene Copies in Colon Adenocarcinoma Based on Intra-Operative Imprints and Tissue Microarrays
(2009)Background: Although Epidermal Growth Factor Receptor (EGFR) over expression is a frequent event in colon adenocarcinoma (CA), identification of EGFR gene deregulation mechanisms - combined to k-ras mutations - remains the ... -
Clinical immunology quiz - Case 5
(2008) -
Colistin resistant mcr genes prevalence in livestock animals (Swine, bovine, poultry) from a multinational perspective. a systematic review
(2021)The objective of this review is to collect and present the results of relevant studies on an international level, on the subject of colistin resistance due to mcr genes prevalence in livestock animals. After a literature ...