Browsing by Subject "gene locus"

Now showing items 1-15 of 15

    • Article  

      Analysis of published PKD1 gene sequence variants [3] 

      Gout, A. M.; Ravine, D.; Harris, Peter C.; Rossetti, S.; Peters, D.; Breuning, M.; Henske, E. P.; Koizumi, A.; Inoue, S.; Shimizu, Y.; Thongnoppakhun, W.; Yenchitsomanus, P. -T; Constantinou-Deltas, Constantinos D.; Sandford, R.; Torra, R.; Turco, A. E.; Jeffery, S.; Fontes, M.; Somlo, Stefan; Furu, L. M.; Smulders, Y. M.; Mercier, B.; Ferec, C.; Burtey, S.; Pei, Y.; Kalaydjieva, L.; Bogdanova, N.; McCluskey, M.; Geon, L. J.; Wouters, C. H.; Reiterova, J.; Stekrová, J.; San Millan, J. L.; Aguiari, G.; Senno, L. D. (2007)
    • Article  

      Autosomal dominant medullary cystic kidney disease: Evidence of gene locus heterogeneity 

      Fuchshuber, A.; Constantinou-Deltas, Constantinos D.; Berthold, S.; Stavrou, Christoforos V.; Vollmer, M.; Burton, C.; Feest, T.; Krieter, D.; Gal, A.; Brandis, M.; Pierides, Alkis M.; Hildebrandt, F. (1998)
      Autosomal dominant medullary cystic kidney disease (ADMCKD
    • Article  

      Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease 

      Peters, D. J. M.; Spruit, L.; Saris, J. J.; Ravine, D.; Sandkuijl, L. A.; Fossdal, R.; Boersma, J.; van Eijk, R.; Nørby, S.; Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Briessenden, J. E.; Frants, R. R.; van Ommen, G. -J B.; Breuning, M. H. (1993)
      Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. A gene defect located on the short arm of chromosome 16 is responsible for the disease in roughly 86% of affected European ...
    • Article  

      COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy 

      Voskarides, Konstantinos; Damianou, Loukas; Neocleous, Vassos; Zouvani, Ioanna; Christodoulidou, Stalo; Hadjiconstantinou, Valsamakis E.; Ioannou, Kyriakos; Athanasiou, Yiannis; Patsias, Charalambos; Alexopoulos, Efstathios; Pierides, Alkis M.; Kyriacou, Kyriacos C.; Constantinou-Deltas, Constantinos D. (2007)
      Mutations in the COL4A3/COL4A4 genes of type IV collagen have been found in ∼40% of cases of thin basement membrane nephropathy, which is characterized by microscopic hematuria and is classically thought to cause proteinuria ...
    • Article  

      Exploiting position effects and the gypsy retrovirus insulator to engineer precisely expressed transgenes 

      Markstein, M.; Pitsouli, Chrysoula; Villalta, C.; Celniker, S. E.; Perrimon, N. (2008)
      A major obstacle to creating precisely expressed transgenes lies in the epigenetic effects of the host chromatin that surrounds them. Here we present a strategy to overcome this problem, employing a Gal4-inducible luciferase ...
    • Article  

      Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families 

      Constantinou-Deltas, Constantinos D.; Papageorgiou, Elena; Boteva, Kalina; Christodoulou, Kyproula; Breuning, M. H.; Peters, D. J. M.; Pierides, Alkis M. (1995)
      Polycystic kidney disease is an inherited heterogeneous disorder that affects approximately 1:1000 Europeans. It is characterized mainly by the formation of cysts in the kidney that lead to end-stage renal failure with ...
    • Article  

      Genetic variation of DKK3 may modify renal disease severity in ADPKD 

      Liu, M.; Shi, S.; Senthilnathan, S.; Yu, J.; Wu, E.; Bergmann, C.; Zerres, K.; Bogdanova, N.; Coto, E.; Constantinou-Deltas, Constantinos D.; Pierides, Alkis M.; Demetriou, Kyproula; Devuyst, O.; Gitomer, B.; Laakso, M.; Lumiaho, A.; Lamnissou, Klea; Magistroni, R.; Parfrey, P.; Breuning, M.; Peters, D. J. M.; Torra, R.; Winearls, C. G.; Torres, V. E.; Harris, Peter C.; Paterson, A. D.; Pei, Y. (2010)
      Significant variation in the course of autosomal dominant polycystic kidney disease (ADPKD) within families suggests the presence of effect modifiers. Recent studies of the variation within families harboring PKD1 mutations ...
    • Article  

      Greek Cypriot allele and genotype frequencies for amplitype® PM-DQA1 and D1S80 loci 

      Cariolou, Marios A.; Manoli, Panayiotis; Christoforou, Maria; Bashiardes, Evy; Karagrigoriou, Alex; Budowle, Bruce (1998)
      A sample from the Greek Cypriot population was typed at seven forensically important PCR-based loci: LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, and D1S80. The results showed that all loci meet Hardy-Weinberg expectations and ...
    • Article  

      The Ink4/Arf locus is a barrier for iPS cell reprogramming 

      Li, H.; Collado, M.; Villasante, A.; Strati, Katerina; Ortega, S.; Cãamero, M.; Blasco, M. A.; Serrano, M. (2009)
      The mechanisms involved in the reprogramming of differentiated cells into induced pluripotent stem (iPS) cells by the three transcription factors Oct4 (also known as Pou5f1), Klf4 and Sox2 remain poorly understood. The ...
    • Article  

      Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1 

      Koptides, Michael; Mean, R.; Stavrou, Christoforos V.; Pierides, Alkis M.; Demetriou, Kyproula; Nakayama, T.; Hildebrandt, F.; Fuchshuber, A.; Constantinou-Deltas, Constantinos D. (2001)
      Autosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage renal failure. The gene responsible for ADMCKD-1 was mapped on ...
    • 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  

      A quorum sensing regulated small volatile molecule reduces acute virulence and promotes chronic infection phenotypes 

      Kesarwani, M.; Hazan, R.; He, J.; Que, Y.; Apidianakis, Yiorgos; Lesic, B.; Xiao, G.; Dekimpe, V.; Milot, S.; Déziel, Eric; Lépine, F.; Rahme, L. G. (2011)
      A significant number of environmental microorganisms can cause serious, even fatal, acute and chronic infections in humans. The severity and outcome of each type of infection depends on the expression of specific bacterial ...
    • Article  

      Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region 

      Rüschendorf, F.; Fuchshuber, A.; Kroiss, S.; Karle, S.; Berthold, S.; Huck, K.; Burton, C.; Rahman, N.; Koptides, Michael; Constantinou-Deltas, Constantinos D.; Otto, E.; Feest, T.; Hildebrandt, F. (2001)
      Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal failure. A gene locus (MCKD1) has been mapped on chromosome 1q21. ...
    • 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  

      Type 2 diabetes susceptibility in the Greek-Cypriot population: Replication of associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 polymorphisms 

      Votsi, C.; Toufexis, C.; Michailidou, K.; Antoniades, Athos; Skordis, Nicos A.; Karaolis, Minas A.; Pattichis, Constantinos S.; Christodoulou, Kyproula (2017)
      Type 2 diabetes (T2D) has been the subject of numerous genetic studies in recent years which revealed associations of the disease with a large number of susceptibility loci. We hereby initiate the evaluation of T2D ...