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 Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.
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Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.

Abstract Autosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage renal failure. The gene responsible for ADMCKD-1 was mapped on…

Continue ReadingNovel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.
Read more about the article BRCA1 germline mutations in Cypriot breast cancer patients from 26 families with family history.
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BRCA1 germline mutations in Cypriot breast cancer patients from 26 families with family history.

Abstract Germline mutations in the BRCA1 gene are causative for a variable number of hereditary breast/ovarian cancers. The data presented in this study are based on genetic analysis of the…

Continue ReadingBRCA1 germline mutations in Cypriot breast cancer patients from 26 families with family history.
Read more about the article Data on nine STR loci used for forensic and paternity testing in the Greek Cypriot population of Cyprus.
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Data on nine STR loci used for forensic and paternity testing in the Greek Cypriot population of Cyprus.

Abstract Allele frequencies for the nine STRs included in the AMPFlSTR kit were obtained from a sample of 152 unrelated Greek Cypriot from the Mediterranean island of Cyprus

Continue ReadingData on nine STR loci used for forensic and paternity testing in the Greek Cypriot population of Cyprus.
Read more about the article Dielectric relaxation in an enzyme active site: molecular dynamics simulations interpreted with a macroscopic continuum model.
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Dielectric relaxation in an enzyme active site: molecular dynamics simulations interpreted with a macroscopic continuum model.

Abstract Dielectric relaxation plays an important role in many chemical processes in proteins, including acid-base titration, ligand binding, and charge transfer reactions. Its complexity makes experimental characterization difficult, and so,…

Continue ReadingDielectric relaxation in an enzyme active site: molecular dynamics simulations interpreted with a macroscopic continuum model.
Read more about the article Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
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Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

Abstract The autosomal dominant form of polycystic kidney disease is a very frequent genetically heterogeneous inherited condition affecting approximately 1 : 1000 individuals of the Caucasian population. The main symptom…

Continue ReadingNovel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.