Πλοήγηση ανά Θέμα "heterozygote"
Αποτελέσματα 21-34 από 34
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Influence of a CYP1A2 polymorphism on post-exercise heart rate variability in response to caffeine intake: a double-blind, placebo-controlled trial
(2017)Background: Proposed differences in caffeine metabolism due to the CYP1A2*1F polymorphism have been linked to variations in cardiovascular disease risk. Aims: We examined the influence of a CYP1A2*1F polymorphism on ... -
Late-onset Pompe's disease in a hemodialysis patient: A first case report
(2018)A 37-year-old hemodialysis patient appeared with unusual somnolence during 2 successive hemodialysis sessions. Blood gas analysis revealed hypercapnic respiratory failure and spirometry restrictive lung disease. After ... -
Motor and Nonmotor Features of Carriers of the p.A53T Alpha-Synuclein Mutation: A Longitudinal Study
(2016)Background: G209A SNCA mutation carriers represent an important group of genetic PD. We describe motor and nonmotor features of G209A SNCA mutation carriers. Methods: Longitudinal clinical assessments over 2 years were ... -
Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance?
(1999)The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ... -
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 ... -
Occurrence and characterization of extended-spectrum cephalosporin-resistant Enterobacteriaceae in healthy household dogs in Greece
(2018)Extended-spectrum cephalosporin-and/or carbapenem-resistant (ESCR and/or CarbR) Enterobacteriaceae constitute a public health hazard because of limited treatment options and are endemic among humans in Greece. Recently, ... -
Plasminogen glycoforms alteration and activation susceptibility associated with the missense variant p.Lys330Glu in HAE-PLG patients
(2020)[No abstract available] -
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 ... -
Sleep quality and duration in relation to memory in the elderly: Initial results from the Hellenic Longitudinal Investigation of Aging and Diet
(2017)Background Sleep is crucial for cognition, particularly for memory, given its complex association with neurodegenerative processes. The aim of the present study was to examine the association between sleep quality as well ... -
Staphylococcus aureus Carriage in Hidradenitis Suppurativa: Impact on Response to Adalimumab
(2021)Background: Several patients with hidradenitis suppurativa (HS) present flare-ups during treatment with adalimumab (ADA), the cause of which is not clear. ADA is the only FDA-approved biologic for the therapy of ... -
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 ... -
Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach
(2017)Background: The presence of an intracranial aneurysm (IA) is thought to have a genetic origin. The genetic association studies (GAS) that investigated the association between IA and elastin gene (ELN) variants have produced ... -
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 ...