Browsing by Subject "exon"
Now showing items 1-20 of 25
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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 ... -
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 ... -
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, ... -
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, ... -
CADASIL in Greece: Mutational spectrum and clinical characteristics based on a systematic review and pooled analysis of published cases
(2022)Background: Differences have been noted in the clinical presentation and mutational spectrum of CADASIL among various geographical areas. The aim of the present study was to investigate the mode of clinical presentation ... -
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. -
Deep Intronic SERPING1 Gene Variants: Ending One Odyssey and Starting Another?
(2021)[No abstract available] -
Diagnostic value of immunohistochemistry for the detection of the BRAF V600E mutation in colorectal carcinoma
(2016)Purpose: V600E is the most common activating BRAF mutation in colorectal carcinomas (CRCs). It is a crucial biomarker for patient selection and response to targeted therapy with BRAF V600E inhibitors. Previous studies using ... -
FIP1L1-PDGFRA molecular analysis in the differential diagnosis of eosinophilia
(2009)Background: Primary eosinophlia associated with the FIP1L1-PDGFRA rearrangement represents a subset of chronic eosinophilic leukaemia (CEL) and affected patients are very sensitive to imatinib treatment. This study was ... -
Genetic contribution of MHC class II genes in susceptibility to west nile virus infection
(2016)WNV is a zoonotic neurotropic flavivirus that has recently emerged globally as a significant cause of viral encephalitis. The last five years, 624 incidents of WNV infection have been reported in Greece. The risk for severe ... -
Genetic polymorphism of canine cytochrome P450 2D25 gene
(2004)Human CYP2D6 is involved in the metabolism of a number of drugs including neuroleptics, tricyclic antidepressants, β-adrenoreceptors antagonists and antiarrhythmic drugs. The corresponding canine CYP2D15 have shown similar ... -
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 ... -
Identification of polymorphisms of the CSN2 gene encoding β-casein in greek local breeds of cattle
(2021)This e research focused on the detection and identification of genetic polymorphisms in exon 7 of the β-casein CSN2 gene in blood samples from Greek Holstein cows and from local breeds of cattle, such as Vrachykeratiki, ... -
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. -
International Consensus on the Use of Genetics in the Management of Hereditary Angioedema
(2020)Hereditary angioedema (HAE) is becoming much more genetically complex than was initially considered. Thus, the role of HAE genetics is expanding beyond research laboratories, and the genotyping of subjects suffering from ... -
Islands and hybrid zones: Combining the knowledge from "natural Laboratories" to explain phylogeographic patterns of the European brown hare 06 Biological Sciences 0604 Genetics
(2019)Background: The aim of the study was to use hybrid populations as well as island populations of the European brown hare (Lepus europaeus) to explore the effect of evolutionary events, such as the post-deglaciation ... -
Mutation profile of KRAS and BRAF genes in patients with colorectal cancer: Association with morphological and prognostic criteria
(2015)KRAS and BRAF mutations are well-recognized molecular alterations during colorectal carcinogenesis, but there is little agreement on their effect on tumor characteristics. Therefore, we aimed to evaluate the distribution ... -
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
(2020)ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous ... -
A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature
(2017)Nasu-hakola disease (NHD) is a rare disease characterized by bone cysts and fractures, frontal lobe syndrome, and progressive presenile dementia. NHD may be the prototype of primary microglial disorders of the CNS or, as ... -
Plasminogen Activator Inhibitor Type-1 Tag Single-Nucleotide Polymorphisms in Patients with Diabetes Mellitus Type 2 and Diabetic Retinopathy
(2017)Background: There is accumulating evidence for genetic susceptibility to the development of diabetic retinopathy (DR). The role of plasminogen activator inhibitor-1 (PAI-1) in DR risk remains controversial. Objective: The ...