Read more about the article Quaternary history and contemporary patterns in a currently expanding species.
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Quaternary history and contemporary patterns in a currently expanding species.

Abstract Quaternary climatic oscillations had dramatic effects on species evolution. In northern latitudes, populations had to survive the coldest periods in refugial areas and recurrently colonized northern regions during interglacials.…

Continue ReadingQuaternary history and contemporary patterns in a currently expanding species.
Read more about the article SOX1 links the function of neural patterning and Notch signalling in the ventral spinal cord during the neuron-glial fate switch.
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SOX1 links the function of neural patterning and Notch signalling in the ventral spinal cord during the neuron-glial fate switch.

Abstract During neural development the transition from neurogenesis to gliogenesis, known as the neuron-glial (Nu/G) fate switch, requires the coordinated function of patterning factors, pro-glial factors and Notch signalling. How…

Continue ReadingSOX1 links the function of neural patterning and Notch signalling in the ventral spinal cord during the neuron-glial fate switch.
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 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 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.
Read more about the article Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.
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Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.

Abstract Familial amyloidotic polyneuropathy (FAP) TTR Val30Met is a lethal autosomal dominant sensorimotor and autonomic neuropathy due to a substitution of methionine for valine at position 30 of the transthyretin…

Continue ReadingComplement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.