Read more about the article Ultrastructural pathology of the heart in patients with beta-thalassaemia major.
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Ultrastructural pathology of the heart in patients with beta-thalassaemia major.

Abstract Patients with beta-thalassaemia major frequently suffer from hypersiderosis which leads to hemochromatosis of major organs such as the heart and liver. Little information exists about the ultrastructural pathology of…

Continue ReadingUltrastructural pathology of the heart in patients with beta-thalassaemia major.
Read more about the article Prevalence of genetic mutations that predispose to thrombophilia in a Greek Cypriot population.
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Prevalence of genetic mutations that predispose to thrombophilia in a Greek Cypriot population.

Abstract Several hereditary disorders, particularly those affecting the physiological anticoagulation systems, have been well established as risk factors for venous thromboembolism. In the present study, we investigated the prevalence of…

Continue ReadingPrevalence of genetic mutations that predispose to thrombophilia in a Greek Cypriot population.
Read more about the article Binding free energies and free energy components from molecular dynamics and Poisson-Boltzmann calculations. Application to amino acid recognition by aspartyl-tRNA synthetase.
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Binding free energies and free energy components from molecular dynamics and Poisson-Boltzmann calculations. Application to amino acid recognition by aspartyl-tRNA synthetase.

Abstract Specific amino acid binding by aminoacyl-tRNA synthetases (aaRS) is necessary for correct translation of the genetic code. Engineering a modified specificity into aminoacyl-tRNA synthetases has been proposed as a…

Continue ReadingBinding free energies and free energy components from molecular dynamics and Poisson-Boltzmann calculations. Application to amino acid recognition by aspartyl-tRNA synthetase.
Read more about the article RT-PCR for the identification of developmentally regulated novel members of the kinesin-like superfamily.
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RT-PCR for the identification of developmentally regulated novel members of the kinesin-like superfamily.

Abstract

Continue ReadingRT-PCR for the identification of developmentally regulated novel members of the kinesin-like superfamily.
Read more about the article A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.
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A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.

Abstract To determine the genetic basis of autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) in a Cypriot family, we ascertained and studied a large, four-generation kindred in which all participating family…

Continue ReadingA novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.
Read more about the article A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.
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A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.

Abstract Distal hereditary motor neuronopathies (dHMNs) form a heterogeneous group of rare disorders characterized by distal weakness and wasting in the limbs with no significant sensory involvement. Harding has classified…

Continue ReadingA novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.
Read more about the article Ribozyme and peptide-nucleic acid-based gene therapy.
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Ribozyme and peptide-nucleic acid-based gene therapy.

Abstract The recent discovery that RNA can act as a catalyst, apart from carrying genetic information, has given a new dimension to the field of gene therapy and has come…

Continue ReadingRibozyme and peptide-nucleic acid-based gene therapy.
Read more about the article Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.
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Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

Abstract Mutations in three different genes, PKD1, PKD2 and PKD3, can cause a very similar clinical picture of the autosomal dominant form of polycystic kidney disease (ADPKD). Apparently, mutations in…

Continue ReadingAutosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.
Read more about the article Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.
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Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.

Abstract In the last 15 years, four patients with the infantile form of Sandhoff disease were diagnosed in four different families in Cyprus (population 703,000, birth rate 1.7%). Three of…

Continue ReadingSandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.
Read more about the article Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
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Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.

Abstract

Continue ReadingSegregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.