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 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.
Read more about the article Mapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.
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Mapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

Abstract Friedreich's ataxia (FRDA), the most-common form of autosomal recessive ataxia, is inherited in most cases by a large expansion of a GAA triplet repeat in the first intron of…

Continue ReadingMapping of the second Friedreich’s ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.
Read more about the article Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.
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Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

Abstract Subtelomeric chromosomal abnormalities are emerging as an important cause of human genetic disorders. The scope of this investigation was to screen a selected group of children with idiopathic mental…

Continue ReadingScreening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.