Browsing by Subject "Polymerase Chain Reaction"

Article

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease

Koptides, Michael; Mean, R.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2000)

Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by mutations in PKD1 and PKD2, respectively, are very ...

Article

Genotyping HIV-1 and HCV strains by a combinatorial DNA melting assay (COMA)

Kostrikis, Leontios G.; Shin, S.; Ho, David D. (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 ...

Article

The identification and characterization of KRAB-domain-containing zinc finger proteins

Constantinou-Deltas, Constantinos D.; Gilbert, J.; Bartlett, R. J.; Herbstreith, M.; Roses, A. D.; Lee, J. E. (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 ...

Article

Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1

Koptides, Michael; Constantinides, Rolandos; Kyriakides, George K.; Hadjigavriel, Michalis; Patsalis, Philippos C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1998)

Loss of heterozygosity (LOH) is a molecular phenomenon that denotes the loss of one of the two alleles at a specific locus. It is frequently associated with tumour suppressor genes in various cancers and also with ...

Article

Measuring recent thymic emigrants in blood of normal and HIV-1-infected individuals before and after effective therapy

Zhang, L.; Lewin, S. R.; Markowitz, M.; Lin, L. -H; Skulsky, E.; Karanicolas, R.; Yuxian, H.; Xia, J.; Tuttleton, S.; Vesanen, M.; Spiegel, H.; Kost, R.; Van Lunzen, J.; Stellbrink, H. -J; Wolinsky, S.; Borkowsky, W.; Palumbo, P.; Kostrikis, Leontios G.; Ho, David D. (1999)

The role of the thymus in HIV-1 pathogenesis remains unclear. We developed an assay to quantify the number of recent thymic emigrants in blood based on the detection of a major excisional DNA byproduct (termed α1 circle) ...

Article

Multiplex molecular diagnosis of MEFV mutations in patients with Familial Mediterranean fever by light-cycler real-time PCR

Rossou, Elena; Kouvatsi, Anastasia; Aslanidis, Charalampos; Constantinou-Deltas, Constantinos D. (2005)

Article

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

Spotila, L. D.; Constantinou-Deltas, Constantinos D.; Sereda, L.; Ganguly, A.; Riggs, B. L.; Prockop, D. J. (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 ...

Article

Novel cystic fibrosis mutation associated with mild disease in Cypriot patients

Boteva, Kalina; Papageorgiou, Elena; Georgiou, Christina; Angastiniotis, Michael A.; Middleton, Lefkos T.; Constantinou-Deltas, Constantinos D. (1994)

Cyprus is an island in the eastern Mediter-ranean basin inhabited by people of Caucasian extraction, mostly Greek-Cypriots. The most common inherited disease among Caucasians is cystic fibrosis (CF). Although no careful ...

Article

Phenotypic heterogeneity in osteogenesis imperfecta: The mildly affected mother of a proband with a lethal variant has the same mutation substituting cysteine for α1-glycine 904 in a type I procollagen gene (COL1A1)

Constantinou-Deltas, Constantinos D.; Pack, M. A.; Young, S. B.; Prockop, D. J. (1990)

A proband with a lethal variant of osteogenesis imperfecta (OI) has been shown to have, in one allele in a gene for type I procollagen (COL1A1), a single base mutation that converted the codon for α1-glycine 904 to a codon ...

Article

Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families

Constantinou-Deltas, Constantinos D.; Christodoulou, Kyproula; Tjakouri, C.; Pierides, Alkis M. (1996)

Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic kidney failure. ...

Article

Pvull polymorphism at the COL1A2 locus

Constantinou-Deltas, Constantinos D.; Spotila, L. D.; Zhuang, J.; Sereda, L.; Hanning, C.; Prockop, D. J. (1990)

Article

A sequence polymorphism in the 3′-nontranslated region of the proα1 chain of type I procollagen

Westerhausen, A. I.; Constantinou-Deltas, Constantinos D.; Prockop, D. J. (1990)

Article

The substitution of arginine for glycine 85 of the α1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen

Deak, S. B.; Scholz, P. M.; Amenta, P. S.; Constantinou-Deltas, Constantinos D.; Levi-Minzi, S. A.; Gonzalez-Lavin, L.; Mackenzie, J. W. (1991)

We report a case of mild osteogenesis imperfecta in a 56-year-old male undergoing aortic valve replacement surgery. The primary defect in this patient was the substitution of arginine for glycine 85 in one of the two chains ...

Article

Substitutions for glycine α1-637 and glycine α2-694 of type I procollagen in lethal osteogenesis imperfecta: The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix

Tsuneyoshi, T.; Westerhausen, A.; Constantinou-Deltas, Constantinos D.; Prockop, D. J. (1991)

Two substitutions for glycine in the triple-helical domain were found in type I procollagen synthesized by skin fibroblasts from two probands with lethal osteogenesis imperfecta. One was a substitution of valine for glycine ...

Article

Use of molecular beacons and multi-allelic real-time PCR for detection of and discrimination between virulent Bacillus anthracis and other Bacillus isolates

Hadjinicolaou, Andreas V.; Demetriou, Victoria L.; Hezka, Johana; Beyer, W.; Hadfield, T. L.; Kostrikis, Leontios G. (2009)

The awareness of the threat of Bacillus anthracis, the causative agent of the disease anthrax, as a biowarfare and bioterrorism weapon has revived the development of new technologies for rapid and accurate detection of ...