Πλοήγηση ανά Θέμα "Exons"
Αποτελέσματα 1-11 από 11
-
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 ... -
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. -
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 ... -
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 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. -
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 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 ... -
Polymorphic variability in the exon 19 of the RB1 gene and its flanking intronic sequences in HPV16-associated precancerous lesions in the Greek population
(2018)Purpose. The tumour suppressor protein RB plays a decisive role in negative control of the cell cycle, inhibiting tumour development. The present analysis investigated the prevalence of the nucleotide polymorphism A153104G, ... -
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome
(2018)Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, ...