Read more about the article High carrier frequency of 21-hydroxylase deficiency in Cyprus.
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High carrier frequency of 21-hydroxylase deficiency in Cyprus.

Abstract Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene. The carrier frequency of CYP21A2 mutations has…

Continue ReadingHigh carrier frequency of 21-hydroxylase deficiency in Cyprus.
Read more about the article A novel oral nutraceutical formula of omega-3 and omega-6 fatty acids with vitamins (PLP10) in relapsing remitting multiple sclerosis: a randomised, double-blind, placebo-controlled proof-of-concept clinical trial.
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A novel oral nutraceutical formula of omega-3 and omega-6 fatty acids with vitamins (PLP10) in relapsing remitting multiple sclerosis: a randomised, double-blind, placebo-controlled proof-of-concept clinical trial.

Abstract To assess whether three novel interventions, formulated based on a systems medicine therapeutic concept, reduced disease activity in patients with relapsing-remitting multiple sclerosis (MS) who were either treated or…

Continue ReadingA novel oral nutraceutical formula of omega-3 and omega-6 fatty acids with vitamins (PLP10) in relapsing remitting multiple sclerosis: a randomised, double-blind, placebo-controlled proof-of-concept clinical trial.
Read more about the article Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
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Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.

Abstract β-Thalassaemia is one of the most common autosomal recessive single-gene disorder worldwide, with a carrier frequency of 12% in Cyprus. Prenatal tests for at risk pregnancies use invasive methods…

Continue ReadingNext generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
Read more about the article Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
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Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.

Abstract Array Comparative Genomic Hybridization analysis is replacing postnatal chromosomal analysis in cases of intellectual disabilities, and it has been postulated that it might also become the first-tier test in…

Continue ReadingImplementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
Read more about the article Epistatic role of the MYH9/APOL1 region on familial hematuria genes.
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Epistatic role of the MYH9/APOL1 region on familial hematuria genes.

Abstract Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1,…

Continue ReadingEpistatic role of the MYH9/APOL1 region on familial hematuria genes.
Read more about the article Mediterranean diet, overweight and body composition in children from eight European countries: cross-sectional and prospective results from the IDEFICS study.
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Mediterranean diet, overweight and body composition in children from eight European countries: cross-sectional and prospective results from the IDEFICS study.

Abstract A Mediterranean-like dietary pattern has been shown to be inversely associated with many diseases, but its role in early obesity prevention is not clear. We aimed to determine if…

Continue ReadingMediterranean diet, overweight and body composition in children from eight European countries: cross-sectional and prospective results from the IDEFICS study.
Read more about the article Developmental stage- and concentration-specific sodium nitroprusside application results in nitrate reductase regulation and the modification of nitrate metabolism in leaves of Medicago truncatula plants.
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Developmental stage- and concentration-specific sodium nitroprusside application results in nitrate reductase regulation and the modification of nitrate metabolism in leaves of Medicago truncatula plants.

Abstract Nitric oxide (NO) is a bioactive molecule involved in numerous biological events that has been reported to display both pro-oxidant and antioxidant properties in plants. Several reports exist which…

Continue ReadingDevelopmental stage- and concentration-specific sodium nitroprusside application results in nitrate reductase regulation and the modification of nitrate metabolism in leaves of Medicago truncatula plants.
Read more about the article Pax6 is expressed in subsets of V0 and V2 interneurons in the ventral spinal cord in mice.
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Pax6 is expressed in subsets of V0 and V2 interneurons in the ventral spinal cord in mice.

Abstract The embryonic spinal cord in mice is organized into eleven progenitor domains. Cells in each domain first produce neurons and then switch to specifying glia. Five of these domains…

Continue ReadingPax6 is expressed in subsets of V0 and V2 interneurons in the ventral spinal cord in mice.
Read more about the article Reversal of ER-β silencing by chromatin modifying agents overrides acquired tamoxifen resistance.
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Reversal of ER-β silencing by chromatin modifying agents overrides acquired tamoxifen resistance.

Abstract The purpose of this work is to determine the molecular mechanisms underlying tamoxifen resistance. We show here that ER-β is epigenetically silenced in a cell line with acquired tamoxifen…

Continue ReadingReversal of ER-β silencing by chromatin modifying agents overrides acquired tamoxifen resistance.
Read more about the article Intraperitoneal melatonin is not neuroprotective in the G93ASOD1 transgenic mouse model of familial ALS and may exacerbate neurodegeneration.
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Intraperitoneal melatonin is not neuroprotective in the G93ASOD1 transgenic mouse model of familial ALS and may exacerbate neurodegeneration.

Abstract In amyotrophic lateral sclerosis (ALS) reactive oxygen species and apoptosis are implicated in disease pathogenesis. Melatonin with its anti-oxidant and anti-apoptotic properties is expected to ameliorate disease phenotype. The…

Continue ReadingIntraperitoneal melatonin is not neuroprotective in the G93ASOD1 transgenic mouse model of familial ALS and may exacerbate neurodegeneration.