Browsing by Subject "gene structure"

Now showing items 1-5 of 5

    • Article  

      Autosomal dominant polycystic kidney disease: Molecular genetics and molecular pathogenesis 

      Koptides, Michael; Constantinou-Deltas, Constantinos D. (2000)
      Mutations in three different genes, PKD1, PKD2 and PKD3, can cause a very similar clinical picture of the autosomal dominant form of polycystic kidney disease (ADPKD). Apparently, mutations in the PKD3 gene, which is still ...
    • Article  

      Complete coding sequence, exon/intron arrangement and chromosome location of ZNF45, a KRAB-domain-containing gene 

      Constantinou-Deltas, Constantinos D.; Bashiardes, Evy; Patsalis, Philippos C.; Hadjimarcou, Michael I.; Kroisel, P. M.; Ioannou, Petros A. 1953-; Roses, A. D.; Lee, J. E. (1996)
      Zinc finger genes represent a large multigene family present in mammalian and other genomes. A subgroup of these genes contain a conserved motif, the KRAB domain, at the NH2-terminal region, which was recently shown to ...
    • Article  

      Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes 

      Voskarides, Konstantinos; Demosthenous, Panayiota; Papazachariou, Louiza; Arsali, Maria; Athanasiou, Yiannis; Zavros, Michalis; Stylianou, Konstantinos G.; Xydakis, D.; Daphnis, Eugenios K.; Gale, D. P.; Maxwell, P. H.; Elia, Avraam; Pattaro, C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2013)
      Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes ...
    • Article  

      An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy 

      Sharp, N. J. H.; Kornegay, J. N.; Van Camp, S. D.; Herbstreith, M. H.; Secore, S. L.; Kettle, S.; Hung, W. -Y; Constantinou-Deltas, Constantinos D.; Dykstra, M. J.; Roses, A. D.; Bartlett, R. J. (1992)
      Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Two-thirds of DMD patients carry detectable deletions ...
    • Article  

      G to A polymorphism in exon 45 of the COL1A1 gene 

      Sokolov, B. P.; Constantinou-Deltas, Constantinos D.; Tsuneyoshi, T.; Zhuang, J.; Prockop, D. J. (1991)