Sfoglia per Soggetto "MUTATIONS"
Items 1-20 di 39
-
Abnormal serum concentrations of proteins in Parkinson's disease
(2009)Blood serum was used to identify protein biomarkers for diagnosis of Parkinson's disease (PD) using analytically validated quantitative 2D-gel electrophoresis, and single variable and multivariate statistics. Using banked ... -
Bax protein expression in colorectal cancer: Association with p53, bcl-2 and patterns of relapse
(2001)This study evaluated the frequency and the prognostic significance of bax, bcl-2 and p53 proteins in stage B and C adenocarcinomas of the colon and rectum. Paraffin-embedded specimens from 268 patients with colorectal ... -
Charcot-Marie-Tooth Disease in Cyprus: Epidemiological, Clinical and Genetic Characteristics
(2010)Background: Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: a demyelinating and an axonal type. Further subdivisions within these 2 main categories exist ... -
Circulation of intergenotype recombinant noroviruses GII.9/GII.6 from 2006 to 2011 in central Greece
(2014)Noroviruses (NoVs) are members of the Caliciviridae family and are recognized as a worldwide cause of acute nonbacterial gastroenteritis. Based on the genetic analysis of the RdRp and capsid regions, human NoVs are divided ... -
Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus
(2011)Objective: The common single nucleotide polymorphism (SNP) rs143383 in the 5' untranslated region (5'UTR) of growth and differentiation factor 5 (GDF5) is strongly associated with osteoarthritis (OA) and influences GDF5 ... -
Development of a two-step high-resolution melting (HRM) analysis for screening sequence variants associated with resistance to the QoIs, benzimidazoles and dicarboximides in airborne inoculum of Botrytis cinerea
(2014)A rapid, high-resolution melting (HRM) analysis protocol was developed to detect sequence variations associated with resistance to the QoIs, benzimidazoles and dicarboximides in Botrytis cinerea airborne inoculum. HRM ... -
Evolution of a rare vaccine-derived multirecombinant poliovirus
(2005)Recombination is one of the mechanisms by which viral genomes evolve. A vaccine-derived multirecombinant poliovirus strain was isolated from a 5-month-old child with vaccine-associated paralytic poliomyelitis after oral ... -
Expression of p53, p21/waf1, bcl-2, bax, Rb and Ki67 proteins in Hodgkin's lymphomas
(2000)The aim was to investigate the combined immunoexpression of p53, p21, bcl-2, bax, Rb and Ki67 proteins in Hodgkin's lymphomas (HL) and correlate expression patterns with the histotype and the Epstein-Barr Virus (EBV) status. ... -
Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset
(2010)Parkinson's disease (PD), a common neurodegenerative disorder characterized by progressive loss of dopaminergic neurons and their terminations in the basal ganglia, is thought to be related to genetic and environmental ... -
Genetic assessment of familial and early-onset Parkinson's disease in a Greek population
(2014)Background and purpose Although the first mutation associated with Parkinson's disease (PD) was identified several years ago in the alpha-synuclein (SNCA) gene in families of Greek and Italian ancestry, a more systematic ... -
Genetic polymorphisms of innate and adaptive immunity as predictors of outcome in critically ill patients
(2015)Sepsis and septic shock frequently cause the admission or complicate the clinical course of critically ill patients admitted in the intensive care units (ICU). Genetic variations disrupting the immune sensing of infectious ... -
Genetic variants of homocysteine/folate metabolism pathway and risk of inflammatory bowel disease: a synopsis and meta-analysis of genetic association studies
(2010)A synopsis and meta-analysis of studies that investigated the association between genetic variants involved in the homocysteine/folate metabolism pathway and risk of inflammatory bowel disease (IBD) were conducted. Four ... -
Genomic analysis of recombinant Sabin clinical isolates
(2006)Recombination in Poliovirus vaccine strains is a very frequent phenomenon. In this report 23 polio/Sabin strains isolated from healthy vaccinees or from VAPP patients after OPV administration, were investigated in order ... -
Growth kinetic analysis of bi-recombinant poliovirus vaccine strains
(2010)Attenuated strains of Sabin poliovirus vaccine replicate in the human gut and in rare cases may cause vaccine-associated paralytic poliomyelitis (VAPP). Mutations at specific sites of the genome and recombination between ... -
Growth Retardation, Reduced Invasiveness, and Impaired Colistin-Mediated Cell Death Associated with Colistin Resistance Development in Acinetobacter baumannii
(2014)Two colistin-susceptible/colistin-resistant (Col(s)/Col(r)) pairs of Acinetobacter baumannii strains assigned to international clone 2, which is prevalent worldwide, were sequentially recovered from two patients after ... -
High-resolution melting analysis for rapid detection and characterization of Botrytis cinerea phenotypes resistant to fenhexamid and boscalid
(2014)A novel, high-resolution melting (HRM) analysis was developed to detect single nucleotide polymorphisms (SNPs) associated with resistance to fenhexamid (hydroxyanilides) and boscalid (succinate dehydrogenase inhibitors) ... -
High-Resolution Melting approaches towards plant fungal molecular diagnostics
(2015)Reliable and early molecular detection of phytopathogenic fungi is crucial in an era where the expansion of global trade in plant material is undoubtedly increasing the risk of invasive outbreaks, with devastating effects ...