Read more about the article Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
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Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

Abstract The analysis of acylcarnitines (AC) in plasma/serum is established as a useful test for the biochemical diagnosis and the monitoring of treatment of organic acidurias and fatty acid oxidation…

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Read more about the article Nutri-epigenetics and synthetic analogs in cancer chemoprevention.
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Nutri-epigenetics and synthetic analogs in cancer chemoprevention.

Abstract Nutri-epigenetics has lately emerged as a new field in cancer epigenetic research. Cancer represents a multistage and heterogeneous disease that is driven by progressive genetic and epigenetic abnormalities. Epigenetic…

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Read more about the article Determinant factors of physical fitness in European children.
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Determinant factors of physical fitness in European children.

Abstract This study was designed to explore the determinants of physical fitness in European children aged 6-11 years, cross-sectionally and longitudinally. There were sufficient data on 4903 children (50.6 % girls) on…

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Read more about the article The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
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The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Abstract Haemoglobinopathies are the most common monogenic diseases, posing a major public health challenge worldwide. Cyprus has one the highest prevalences of thalassaemia in the world and has been the…

Continue ReadingThe molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
Read more about the article Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
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Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Abstract Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or…

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Read more about the article Environmental distribution of Cryptococcus neoformans and C. gattii around the Mediterranean basin.
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Environmental distribution of Cryptococcus neoformans and C. gattii around the Mediterranean basin.

Abstract In order to elucidate the distribution of Cryptococcus neoformans and C. gattii in the Mediterranean basin, an extensive environmental survey was carried out during 2012-2015. A total of 302…

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Read more about the article Urinary Mineral Concentrations in European Pre-Adolescent Children and Their Association with Calcaneal Bone Quantitative Ultrasound Measurements.
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Urinary Mineral Concentrations in European Pre-Adolescent Children and Their Association with Calcaneal Bone Quantitative Ultrasound Measurements.

Abstract This study investigates differences and associations between urinary mineral concentrations and calcaneal bone measures assessed by quantitative ultrasonography (QUS) in 4322 children (3.1-11.9 years, 50.6% boys) from seven European…

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Read more about the article Sigma-1 receptors modulate neonatal Na1.5 ion channels in breast cancer cell lines.
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Sigma-1 receptors modulate neonatal Na1.5 ion channels in breast cancer cell lines.

Abstract The main aim of this study was to investigate a possible functional connection between sigma-1 receptors and voltage-gated sodium channels (VGSCs) in human breast cancer cells. The hypothesis was…

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Read more about the article Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.
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Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.

Abstract The purpose of this study was to determine the normal range of chitotriosidase activity in the Cypriot population and the frequency of the 24bp duplication polymorphism. Furthermore, we compared…

Continue ReadingChitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.
Read more about the article Integrase Strand Transfer Inhibitors (INSTIs) Resistance Mutations in HIV-1 Infected Turkish Patients.
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Integrase Strand Transfer Inhibitors (INSTIs) Resistance Mutations in HIV-1 Infected Turkish Patients.

Abstract Integrase strand transfer inhibitor (INSTI) is a new class of antiretroviral (ARV) drugs designed to block the action of the integrase viral enzyme, which is responsible for insertation of…

Continue ReadingIntegrase Strand Transfer Inhibitors (INSTIs) Resistance Mutations in HIV-1 Infected Turkish Patients.