Πλοήγηση ανά Θέμα "homozygosity"
Αποτελέσματα 1-11 από 11
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Association of IL-10 gene promoter polymorphisms with food allergy susceptibility and serum IL-10 level in a pediatric Caucasian population
(2021)Background: Interleukin 10 has been shown to play a critical role in the regulation of the immune responses in allergic diseases. Aim: To investigate if genetic polymorphisms in the promoter region of the IL-10 gene are ... -
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 ... -
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 ... -
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. ... -
Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache
(2022)Cluster headache (CH) is a primary headache disorder with a complex genetic background. Several studies indicate a potential link between iron homeostasis and the pathophysiology of primary headaches. The HFE gene encodes ... -
Genomic diversity and population structure of three autochthonous Greek sheep breeds assessed with genome-wide DNA arrays
(2018)In the present study, genome-wide genotyping was applied to characterize the genetic diversity and population structure of three autochthonous Greek breeds: Boutsko, Karagouniko and Chios. Dairy sheep are among the most ... -
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
(2020)ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous ... -
Plasminogen glycoforms alteration and activation susceptibility associated with the missense variant p.Lys330Glu in HAE-PLG patients
(2020)[No abstract available] -
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 ... -
Pulmonary function abnormalities in young adults with thalassemia major
(1997)Thalassemia seems to be the most common genetic disorder. The pathophysiologic mechanisms for lung impairment is not clear. Lung function tests in children showed small airway obstruction and restrictive lung changes. ...