Browsing by Subject "dna sequence"
Now showing items 1-9 of 9
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A base substitution at IVS-19 3′-end splice junction causes exon 20 skipping in proα2(I) collagen mRNA and produces mild osteogenesis imperfecta
(1994)Molecular investigations on a young patient and her family were undertaken to identify the molecular defect responsible for a mild form of osteogenesis imperfecta (OI) with blue sclerae, dentinogenesis imperfecta and joint ...
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Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease
(1996)Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of the gene, we started a search for ...
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Article
Differential expression of the rat retinoid X receptor γ gene during skeletal muscle differentiation suggests a role in myogenesis
(1997)Even though previous studies have shown that transcripts encoding the murine retinoid X receptor γ (RXRγ) are present in skeletal muscle of mouse embryos and that cultured myoblasts are induced to differentiate upon retinoid ...
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Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the hellenic population of Greece and Cyprus
(1996)The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene provides evidence of a ...
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Genetic analysis of human immunodeficiency virus type 1 strains from patients in cyprus: Identification of a new subtype designated subtype I
(1995)DNA sequences encoding the C2 to V3 region of envelope glycoprotein gp120 of human immunodeficiency virus type 1 (HIV-1) were amplified by PCR from uncultured peripheral blood mononuclear cells obtained from 24 of 25 HIV-1- ...
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Genotyping HIV-1 and HCV strains by a combinatorial DNA melting assay (COMA)
(1998)Background: Human immunodeficiency virus type 1 (HIV-1) and hepatitis C virus (HCV) strains can be genetically classified into genetic lineages known as genetic types of subtypes according to phylogenetic analyses of ...
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Article
The identification and characterization of KRAB-domain-containing zinc finger proteins
(1992)The zinc finger motif is a highly conserved tandemly repeated sequence of 28-30 amino acids that was first identified in transcription factor TFIIIA from Xenopus laevis. Subsequently, similar motifs were found and characterized ...
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Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: Evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta
(1991)Mutations in the two genes for type I collagen (COL1A1 or COL1A2) cause osteogenesis imperfecta (OI), a heritable disease characterized by moderate to extreme brittleness of bone early in life. Here we show that a 52-year-old ...
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Article
Ultraviolet Absorbance and Circular Dichroism of Pf1 Virus: Nucleotide/Subunit Ratio of Unity, Hyperchromic Tyrosines and DNA Bases, and High Helicity in the Subunits
(1994)Data have been obtained for the Pfl virion that establish its stoichiometry and conformational features of its DNA and its protein. The absorbance spectrum of the dissociated virus under alkaline denaturing conditions is ...