Πλοήγηση ανά Θέμα "VARIANTS"
Αποτελέσματα 1-18 από 18
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Absence of linkage to chromosomes 6q and 16p in a Greek population with knee osteoarthritis
(2006)Osteoarthritis (OA) is a common age-related debilitating disease of the joints characterized by degeneration of the articular cartilage which leads to joint pain, discomfort, and immobility. Several risk factors have been ... -
Assessment of Parkinson's disease risk loci in Greece
(2014)Genome-wide association studies (GWAS) have been shown to be a powerful approach to identify risk loci for neurodegenerative diseases. Recent GWAS in Parkinson's disease (PD) have been successful in identifying numerous ... -
Detection of hybrids between wild boars (Sus scrofa scrofa) and domestic pigs (Sus scrofa f. domestica) in Greece, using the PCR-RFLP method on melanocortin-1 receptor (MC1R) mutations
(2010)The melanocortin-1 receptor (MC1R) regulates melanogenesis in mammals within the mammalian melanocyte and the hair follicle. Common variations (polymorph isms) in the MC1R gene are associated with normal differences in ... -
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 factors influencing outcome from neurotrauma
(2012)Purpose of review Clinical outcome after neurotrauma is considerably variable and can only partly be explained by known prognostic factors. There is converging evidence from genetic research that a number of genetic variants ... -
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
(2012)Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 ... -
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 ... -
Genomic Convergence of Genome-wide Investigations for Complex Traits
(2009)Genome-wide investigations for identifying the genes for complex traits are considered to be agnostic in terms of prior assumptions for the responsible DNA alterations. The agreement of genome-wide association studies ... -
HLA-C, CSTA and DS12346 susceptibility alleles confer over 100-fold increased risk of developing psoriasis: evidence of gene interaction
(2011)Psoriasis is an inflammatory skin disorder that exhibits multifactorial mode of inheritance. In addition to the well-known susceptibility locus PSORS1 many other loci have been shown to be implicated in the genetic ... -
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
(2014)We conducted a meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty-six loci were identified as having genome-wide ... -
Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country
(2007)We have undertaken a large population screening study to identify the molecular basis of hemoglobinopathies in the central Greece region. A total of 845 unrelated beta-thalassemia patients and alpha-, beta-, and delta ... -
A large-scale replication study for the association of rs17039192 in HIF-2 alpha with knee osteoarthritis
(2012)Osteoarthritis (OA) is a common disease with a genetic component for its etiology. Recently, a genetic association of a single nucleotide polymorphism (SNP), rs17039192 in HIF-2a with knee OA has been reported in a Japanese ... -
Novel Sequence Variations in the CER1 Gene Are Strongly Associated with Low Bone Mineral Density and Risk of Osteoporotic Fracture in Postmenopausal Women
(2012)Osteoporosis is a common skeletal disease characterized by a combination of low bone mass and increased fragility. In this case-control study, we investigated the possible association of two novel candidate genes, CER1 and ... -
Prognostic impact of tumor volumetry in patients with locally advanced head-and-neck carcinoma (non-nasopharyngeal) treated by radiotherapy alone or combined radiochemotherapy in a randomized trial
(2004)Purpose: Tumor volume (TV) is one of the main reported factors determining the outcome of treatment in head-and-neck carcinomas. In this study, the prognostic impact of TV was explored in the context of a randomized trial ... -
RANTES promoter gene polymorphisms and susceptibility to severe respiratory syncytial virus-induced bronchiolitis
(2008)Background: Severe respiratory syncytial virus (RSV) infection is characterized by enhanced chemokine activity. Several studies have linked increased regulated on activation, normal T cell expressed and secreted (RANTES) ... -
Single-Locus-Sequence-Based Typing of bla(OXA-51-like) Genes for Rapid Assignment of Acinetobacter baumannii Clinical Isolates to International Clonal Lineages
(2014)Single-locus bla(OXA-51-like) sequence-based typing (SBT) was evaluated for its ability to determine correctly sequence types (STs) in Acinetobacter baumannii clinical isolates, in comparison with the Pasteur's multilocus ... -
TNFRSF13B/TACI Alterations in Greek Patients with Antibody Deficiencies
(2011)TNFRSF13B/TACI defects have recently been associated with common variable immunodeficiency (CVID) pathogenesis. Considering that TNFRSF13B/TACI is very polymorphic and the frequency of its alterations may be different in ...