Browsing by Author "Xenophontos, Stavroulla L."

Now showing items 1-4 of 4

    • Article  

      New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: Evolution of alleles 

      Constantinides, Rolandos; Xenophontos, Stavroulla L.; Neophytou, Pavlos; Nomura, Shinsuke; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)
      The PKD1 gene, which is responsible for the most common form of autosomal dominant polycystic kidney disease, has recently been cloned and sequenced. Many disease-causing mutations have been characterized in this gene, ...
    • Article  

      PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein 

      Mochizuki, Toshio; Wu, G.; Hayashi, Tomohito; Xenophontos, Stavroulla L.; Veldhuisen, B.; Saris, J. J.; Reynolds, D. M.; Cai, Y.; Gabow, P. A.; Pierides, Alkis M.; Kimberling, W. J.; Breuning, M. H.; Constantinou-Deltas, Constantinos D.; Peters, D. J. M.; Somlo, Stefan (1996)
      A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid ...
    • Article  

      Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population 

      Xenophontos, Stavroulla L.; Hadjivassiliou, Marilena; Ayrton, N.; Karagrigoriou, Alex; Pantzaris, Marios C.; Nicolaïdes, Andrew N.; Cariolou, Marios A. (2002)
      Background. This study was performed to establish the allele, genotype and genotype combination/SNP (single nucleotide polymorphism) profile frequencies in the general population of Cyprus for 6 genes implicated in thrombotic ...
    • Article  

      A translation frameshift mutation induced by a cytosine insertion in the Polycystic Kidney Disease 2 gene (PKD2) 

      Xenophontos, Stavroulla L.; Constantinides, Rolandos; Hayashi, Tomohito; Mochizuki, Toshio; Somlo, Stefan; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1997)
      Mutations in the PKD2 gene on the long arm of chromosome 4 are responsible for ~ 15% of cases of polycystic kidney disease. Perhaps the only difference from the more common ADPKD1 cases is the rate of progression of cystic ...