Auflistung Nach Schlagwort "genomic DNA"
Anzeige der Dokumente 1-20 von 32
-
Aberrant methylation of c-myc and c-fos protooncogenes and p53 tumor suppressor gene in myelodysplastic syndromes and acute non-lymphocytic leukemia
(2003)Purpose: Aberrant methylation, as an epigenetic phenomenon, may precede and regulate the expression of genes involved in transformation mechanisms that lead to leukemogenesis of hemopoietic cells. The genes involved mostly ... -
CD33 rs3865444 as a risk factor for Parkinson's disease
(2021)Background: Alzheimer's (AD) and Parkinson's diseases (PD) share a few elements of their clinical, pathological and genetic backgrounds. The CD33 rs3865444 has emerged as a strong genetic locus associated with AD through ... -
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases
(2020)Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient.MethodsHere, we ... -
Complete exon 2 sequence of the HLA-DPA1*03:01 allele by sequence-based typing
(2016)Completion of the first 20 nucleotides of exon 2 of DPA1*03:01 allele. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. -
CpG Island Methylation Patterns in Relapsing-Remitting Multiple Sclerosis
(2018)DNA methylation may predispose to multiple sclerosis (MS), as aberrant methylation in the promoter regions across the genome seems to underlie several processes of MS. We have currently determined the methylation status ... -
CYP1A2 rs762551 polymorphism and risk for amyotrophic lateral sclerosis
(2021)Background: Genetic variability is considered to confer susceptibility to amyotrophic lateral sclerosis (ALS). Oxidative stress is a significant contributor to ALS-related neurodegeneration, and it is regulated by cytochromes ... -
Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache
(2022)Cluster headache (CH) is a primary headache disorder with a complex genetic background. Several studies indicate a potential link between iron homeostasis and the pathophysiology of primary headaches. The HFE gene encodes ... -
Glutathione S-transferase gene polymorphism and asthma: A case-control study in a pediatric population
(2022)Aim: To carry out a case-control study of the association of GST gene polymorphisms in pediatric asthma-related oxidative stress. Materials & methods: Asthma patients (n = 250) and age-matched healthy subjects (n = 250) ... -
The greek variant in app gene: The phenotypic spectrum of app mutations
(2021)Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer’s disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric ... -
Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia
(2014)A 2-year-old female was presented with high levels of serum ferritin (890 ng/mL) in a routine blood test. Clinical and laboratory investigations excluded the presence of iron overload and secondary causes of hyperferritinemia. ... -
Identification of Brucella spp. isolates and discrimination from the vaccine strain Rev.1 by MALDI-TOF mass spectrometry
(2020)Brucellosis' surveillance and control programs require robust laboratory techniques that can reliably identify and biotype Brucella strains and discriminate between vaccine and field infection. In the recent years, Matrix ... -
Identification of the novel HLA-DRB1*11:192 allele by sequence-based typing in Greece
(2016)The new allele DRB1*11:192 exon 2 differs from the DRB1*11:01:01:01 by three substitutions. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. -
Immunoglobulin genes in multiple myeloma: Expressed and non-expressed repertoires, heavy and light chain pairings and somatic mutation patterns in a series of 101 cases
(2006)Background and Objectives. The available data on the immunoglobulin gene (IG) repertoire in multiple myeloma (MM) derive mainly from heavy chains; considerably less is known about light chains. We assessed in parallel IGH ... -
Impact of miR-SNP rs2910164 on miR-146a expression in osteoarthritic chondrocytes
(2020)Purpose: MiR-146a acts as a negative inflammatory mediator in different diseases and has been implicated in osteoarthritis (OA) pathogenesis. In our study, we investigated the association between miR-SNP rs2910164 and OA ... -
Impact of renin–angiotensin–aldosterone system polymorphisms on myocardial perfusion: Correlations with myocardial single photon emission computed tomography-derived parameters
(2019)Background: Renin–angiotensin–aldosterone system (RAAS) has an important role in atherosclerosis. We investigated the effects of six RAAS gene polymorphisms on myocardial perfusion. Methods and Results: We examined 810 ... -
Inactivation, removal, and regrowth potential of opportunistic pathogens and antimicrobial resistance genes in recycled water systems
(2021)With two thirds of the global population living in areas affected by water scarcity, wastewater reuse is actively being implemented or explored by many nations. There is a need to better understand the efficacy of recycled ... -
Letter to the Editor: Importation of the First Bovine ST361 New Delhi Metallo-5 Positive Escherichia coli in Greece
(2022)[No abstract available] -
Liver Expression of Sulphotransferase 2A1 Enzyme Is Impaired in Patients with Primary Sclerosing Cholangitis: Lack of the Response to Enhanced Expression of PXR
(2015)Background/Aim. Sulphotransferase 2A1 (SULT2A1) exerts hepatoprotective effects. Transcription of SULT2A1 gene is induced by pregnane-X-receptor (PXR) and can be repressed by miR-378a-5p. We studied the PXR/SULT2A1 axis ... -
Muscle xenografts reproduce key molecular features of facioscapulohumeral muscular dystrophy
(2019)Aberrant expression of DUX4, a gene unique to humans and primates, causes Facioscapulohumeral Muscular Dystrophy-1 (FSHD), yet the pathogenic mechanism is unknown. As transgenic overexpression models have largely failed ...