Listar por tema "heterozygosity"
Mostrando ítems 1-17 de 17
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Association between TLR2/TLR4 gene polymorphisms and COPD phenotype in a Greek cohort [Assoziation zwischen TLR2-/TLR4-Gen-Polymorphismen und COPD-Phänotyp]
(2017)Background: Considering that the innate immune system plays a pivotal role in the pathogenesis of chronic obstructive pulmonary disease (COPD), we hypothesized that functional single-nucleotide polymorphisms (SNPs) of ... -
Association of maternal angiotensin II type 1 and type 2 receptor combination genotypes with susceptibility to early-onset preeclampsia
(2022)Allelic variations affecting the activity of the maternal renin-angiotensin system may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form, and intrauterine ... -
Association of maternal Toll-like receptor-4 alleles with susceptibility to early-onset preeclampsia in central Greece
(2019)Introduction: Altered maternal inflammatory responses may play a role in the development of hypertensive disorders of pregnancy like preeclampsia, its more severe early-onset form and intrauterine growth restriction. We ... -
Association of the Polygenic Risk Score With the Probability of Prodromal Parkinson’s Disease in Older Adults
(2021)Several studies have investigated the association of the Parkinson’s disease (PD) polygenic risk score (PRS) with several aspects of well-established PD. We sought to evaluate the association of PRS with the prodromal stage ... -
Awareness of thrombotic disease during lockdown: an unusual consequence of the COVID-19 pandemic
(2021)[No abstract available] -
BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm
(2019)A few genetic variants are implicated in the development of blepharospasm (BSP). The precise role of the rs6265 on the brain-derived neurotrophic factor (BDNF) gene on BSP remains controversial. The effect of rs6265 on BSP ... -
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis
(2007)Acute recurrent/chronic pancreatitis (CP) is a complex multigenic disease. This is a case-control study consisting of 25 Greek patients with CP and a control population of 236 healthy Greek subjects. The whole coding area ... -
Effect of integrin AV and B8 gene polymorphisms in patients with traumatic brain injury
(2019)Background: Α few genetic variants are associated with the outcome after traumatic brain injury (TBI). Integrins are glycoprotein receptors that play an important role in the integrity of microvasculature of the brain. ... -
Functional characterization of the hGRαT556I causing Chrousos syndrome
(2016)Background: Chrousos syndrome is a rare pathologic condition characterized by generalized, partial resistance of target tissues to glucocorticoids and caused by inactivating mutations of the human glucocorticoid receptor ... -
High connectivity of the white seabream (Diplodus sargus, l. 1758) in the aegean sea, eastern mediterranean basin
(2019)Population dynamics in the marine realm can shape species’ spatial structure and genetic variability between given geographical areas. Connectivity is an important factor of species’ population structure. In this study, ... -
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. -
Prevalence and determinants of subjective cognitive decline in a representative Greek elderly population
(2019)Objectives: We studied the prevalence of subjective cognitive decline (SCD) and its determinants in a sample of 1456 cognitively normal Greek adults ≥65 years old. Methods/design: Subjects were evaluated by a multidisciplinary ... -
Prevalence of uncoupling protein one genetic polymorphisms and their relationship with cardiovascular and metabolic health
(2022)Contribution of UCP1 single nucleotide polymorphisms (SNPs) to susceptibility for cardiometabolic pathologies (CMP) and their involvement in specific risk factors for these conditions varies across populations. We tested ... -
Sex-specific impact of inbreeding on pathogen load in the striped dolphin
(2020)The impact of inbreeding on fitness has been widely studied and provides consequential inference about adaptive potential and the impact on survival for reduced and fragmented natural populations. Correlations between ... -
SORL1 mutation in a Greek family with Parkinson's disease and dementia
(2021)Whole exome sequencing and linkage analysis were performed in a three generational pedigree of Greek origin with a broad phenotypic spectrum spanning from Parkinson’s disease and Parkinson’s disease dementia to dementia ... -
Susceptibility of β-thalassemia heterozygotes to COVID-19
(2021)Background: β-Thalassemia is the most prevalent single gene blood disorder, while the assessment of its susceptibility to coronavirus disease 2019 (COVID-19) warrants it a pressing biomed-ical priority. Methods: We studied ... -
Vulnerability of β-Thalassemia Heterozygotes to COVID-19: Results from a Cohort Study
(2022)Background: The assignment of mortality risk from SARS-CoV-2 virus (COVID-19) to vulnerable patient groups is an important step toward containment of the pandemic. Methods: A total of 760 patients with a positive molecular ...