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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 ... -
Changes of serum sclerostin and Dickkopf-1 levels during the menstrual cycle. A pilot study
(2016)Studies in postmenopausal women have identified sclerostin as a strong candidate for mediating estrogen effects on the skeleton. The effects of estradiol on sclerostin and Dickkopf-1 in younger women remain unclear. The ... -
Characterizing miRNA–lncRNA Interplay
(2021)Long noncoding RNAs (lncRNAs) are noncoding transcripts, usually longer than 200 nt, that constitute one of the largest and significantly heterogeneous RNA families. The annotation of lncRNAs and the characterization of ... -
CYP1A2 rs762551 and ADORA2A rs5760423 Polymorphisms in Patients with Blepharospasm
(2020)Blepharospasm (BSP) is a neurological movement disorder. Coffee consumption has been found to have a protective effect against BSP. BSP and apraxia of eyelid opening are particularly common among patients with PD. The ... -
Does the CD33 rs3865444 Polymorphism Confer Susceptibility to Alzheimer’s Disease?
(2020)Alzheimer’s disease (AD) is a complex genetic disorder. To date, published data have reported conflicting results on the role of CD33 rs3865444 polymorphism in AD. The present study aimed at evaluating the effect of rs3865444 ... -
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 ... -
Functional analysis of miRNAs using the DIANA tools online suite
(2017)microRNAs (miRNAs) are central regulators of gene expression. They are actively studied for their involvement in numerous physiological and pathological conditions but also as diagnostic biomarkers or promising therapeutic ... -
Genetics of Hereditary Angioedema Revisited
(2016)Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing ... -
Identifying pri-miRNA transcription start sites
(2018)MicroRNAs (miRNAs) are small non-coding RNAs that can regulate gene expression playing vital role in nearly all biological pathways. Even though miRNAs have been intensely studied for more than two decades, information ... -
IL-35: a new immunomodulator in autoimmune rheumatic diseases
(2018)IL-35 is a relatively new cytokine that emerges as an important immunomodulator. IL-35 belongs to IL-12 cytokine family that includes IL-12, IL-23, IL-27, and IL-35. These cytokines are heterodimers that share subunits and ... -
In early pubertal boys, testosterone and LH are associated with improved anti-oxidation during an aerobic exercise bout
(2019)Purpose: To investigate the association of the hypothalamic-pituitary-testicular (HPT) axis with pro- and anti- oxidation, in relation to puberty and obesity in boys, before and after an aerobic exercise bout. Methods: ... -
Integrins AV and B8 Gene Polymorphisms and Risk for Intracerebral Hemorrhage in Greek and Polish Populations
(2017)Α limited number of genetic variants have been linked to the development of intracerebral hemorrhage (ICH). Ιntegrin AV and/or B8-deficient mice were found to develop ICH. The present candidate gene association study was ... -
Interrelations among the adipocytokines leptin and adiponectin, oxidative stress and aseptic inflammation markers in pre- and early-pubertal normal-weight and obese boys
(2017)Purpose: Presumed interrelationships among deleterious aspects of adipose tissue metabolism, inflammation, and cellular oxidative stress could be influenced by pubertal hormonal changes. They were investigated in pre- and ... -
Meta-Analysis Methods of Diagnostic Test Accuracy Studies
(2022)Meta-analytic techniques are used to combine the results of different studies that have evaluated the accuracy of diagnostic tests. In this article, we present univariate and multivariate meta-analysis methods for a single ... -
Methods of analysis and meta-analysis for identifying differentially expressed genes
(2018)Microarray approaches are widely used high-throughput techniques to assess simultaneously the expression of thousands of genes under certain conditions and study the effects of certain treatments, diseases, and developmental ... -
Multivariate methods for meta-analysis of genetic association studies
(2018)Multivariate meta-analysis of genetic association studies and genome-wide association studies has received a remarkable attention as it improves the precision of the analysis. Here, we review, summarize and present in a ... -
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 ... -
Predicting alpha helical transmembrane proteins using HMMs
(2017)Alpha helical transmembrane (TM) proteins constitute an important structural class of membrane proteins involved in a wide variety of cellular functions. The prediction of their transmembrane topology, as well as their ... -
Predicting beta barrel transmembrane proteins using HMMs
(2017)Transmembrane beta-barrels (TMBBs) constitute an important structural class of membrane proteins located in the outer membrane of gram-negative bacteria, and in the outer membrane of chloroplasts and mitochondria. They are ... -
The Role of MicroRNAs in Patients with Amyotrophic Lateral Sclerosis
(2018)Amyotrophic lateral sclerosis (ALS) is a serious neurodegenerative disease that affects motor neurons and leads to death within 2 to 3 years after the first symptoms manifest. MicroRNAs (miRNAs) are small non-coding RNA ...