Read more about the article Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.
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Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.

Abstract We report five mutations, three of them novel, responsible for maple syrup urine disease in four unrelated Cypriot families. The five children studied are the first cases of classic…

Continue ReadingMaple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.
Read more about the article Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.
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Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.

Abstract Inability to correctly repair DNA damage is known to play a role in the development of breast cancer. Single nucleotide polymorphisms (SNPs) of DNA repair genes have been identified,…

Continue ReadingGenetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.
Read more about the article An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project.
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An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project.

Abstract Hemoglobin (Hb) disorders are common, potentially lethal monogenic diseases, posing a global health challenge. With worldwide migration and intermixing of carriers, demanding flexible health planning and patient care, hemoglobinopathies…

Continue ReadingAn electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project.
Read more about the article Evolution and phylogenetic analysis of full-length VP3 genes of Eastern Mediterranean bluetongue virus isolates.
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Evolution and phylogenetic analysis of full-length VP3 genes of Eastern Mediterranean bluetongue virus isolates.

Abstract Bluetongue virus (BTV) is the 'type' species of the genus Orbivirus within the family Reoviridae. The BTV genome is composed of ten linear segments of double-stranded RNA (dsRNA), each…

Continue ReadingEvolution and phylogenetic analysis of full-length VP3 genes of Eastern Mediterranean bluetongue virus isolates.
Read more about the article Molecular and morphological characterization of Dothiorella casuarini sp. nov. and other Botryosphaeriaceae with diplodia-like conidia.
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Molecular and morphological characterization of Dothiorella casuarini sp. nov. and other Botryosphaeriaceae with diplodia-like conidia.

Abstract After recent changes to the taxonomy of the Botryosphaeriaceae species with diplodia-like (= dark, ovoid, often pigmented) conidia are considered to belong to at least three genera including Diplodia,…

Continue ReadingMolecular and morphological characterization of Dothiorella casuarini sp. nov. and other Botryosphaeriaceae with diplodia-like conidia.
Read more about the article Genetic structure of Mediterranean chukar (Alectoris chukar, Galliformes) populations: conservation and management implications.
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Genetic structure of Mediterranean chukar (Alectoris chukar, Galliformes) populations: conservation and management implications.

Abstract The chukar (Alectoris chukar, Galliformes) is a species hunted throughout its native range from the East Mediterranean to Manchuria and in the USA, which hosts the world's largest introduced…

Continue ReadingGenetic structure of Mediterranean chukar (Alectoris chukar, Galliformes) populations: conservation and management implications.
Read more about the article Design and validation of a high-throughput assay to detect codon 146 polymorphisms in the caprine prion protein gene.
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Design and validation of a high-throughput assay to detect codon 146 polymorphisms in the caprine prion protein gene.

Abstract In sheep, scrapie susceptibility is so strongly associated with single nucleotide polymorphisms (SNPs) in the gene encoding the prion protein (PrP) that this linkage constitutes the basis for selective…

Continue ReadingDesign and validation of a high-throughput assay to detect codon 146 polymorphisms in the caprine prion protein gene.

Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches.

Author information: Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus. Abstract SURVEYOR is a new mismatch-specific plant DNA endonuclease that is very efficient for mutation scanning in heteroduplex DNA.…

Continue ReadingScreening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches.
Read more about the article A new neurogenic vestibular evoked potential (N6) recorded with the use of air-conducted sound.
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A new neurogenic vestibular evoked potential (N6) recorded with the use of air-conducted sound.

Abstract Neurogenic vestibular evoked potentials that are recorded from the scalp have so far been recorded in the form of N3 (click air-conducted), N5 (tone air-conducted), and P10 (bone-conducted stimulus)…

Continue ReadingA new neurogenic vestibular evoked potential (N6) recorded with the use of air-conducted sound.
Read more about the article Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
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Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.

Abstract The purpose of this study was to identify and determine the frequencies of rare CYP21A2 gene mutations in patients with 21-hydroxylase deficiency (21-OHD) in the Cypriot population. Direct sequencing…

Continue ReadingRare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.