Browsing by Subject "single nucleotide polymorphism"

Now showing items 1-12 of 12

    • Article  

      Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met 

      Dardiotis, Efthymios; Koutsou, Pantelitsa; Zamba-Papanicolaou, Eleni; Vonta, Filia; Hadjivassiliou, Marilena; Hadjigeorgiou, Georgios M.; Cariolou, Marios A.; Christodoulou, Kyproula; Kyriakides, Theodoros (2009)
      Background: Familial amyloidotic polyneuropathy (FAP) TTR Val30Met is a lethal autosomal dominant sensorimotor and autonomic neuropathy due to a substitution of methionine for valine at position 30 of the transthyretin ...
    • Article  

      A computationally fast measure of epistasis for 2 SNPs and a categorical phenotype. 

      Antoniades, Athos; Matthews, P. M.; Pattichis, Constantinos S.; Galwey, N. W. (2010)
      Complex diseases may be caused by interactions or combined effects between multiple genetic and environmental factors. One of the main limitations of testing for interaction between genetic loci in large whole genome studies ...
    • 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  

      A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population 

      Voskarides, Konstantinos; Stefanou, Charalambos; Pieri, Myrtani; Demosthenous, Panayiota; Felekkis, Kyriacos N.; Arsali, Maria; Athanasiou, Yiannis; Xydakis, D.; Stylianou, Konstantinos G.; Daphnis, Eugenios K.; Goulielmos, George N.; Loizou, P.; Savige, J.; Höhne, M.; Völker, L. A.; Benzing, T.; Maxwell, P. H.; Gale, D. P.; Gorski, M.; Böger, C.; Kollerits, B.; Kronenberg, F.; Paulweber, B.; Zavros, Michalis; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2017)
      Background Recent data emphasize that thin basement membrane nephropathy (TBMN) should not be viewed as a form of benign familial hematuria since chronic renal failure (CRF) and even end-stage renal disease (ESRD), is a ...
    • 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  

      Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis 

      Gale, D. P.; De Jorge, E. G.; Cook, H. T.; Martinez-Barricarte, R.; Hadjisavvas, Andreas; McLean, A. G.; Pusey, C. D.; Pierides, Alkis M.; Kyriacou, Kyriacos C.; Athanasiou, Yiannis; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D.; Palmer, A.; De Cordoba, S. R.; Maxwell, P. H.; Pickering, M. C.; Frémeaux-Bacchi, V. (2010)
      Summary Background Complement is a key component of the innate immune system, and variation in genes that regulate its activation is associated with renal and other disease. We aimed to establish the genetic basis for a ...
    • Article  

      A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy 

      Papagregoriou, Gregory N.; Erguler, K.; Dweep, H.; Voskarides, Konstantinos; Koupepidou, P.; Athanasiou, Yiannis; Pierides, Alkis M.; Gretz, N.; Felekkis, Kyriacos N.; Constantinou-Deltas, Constantinos D. (2012)
      Heparin binding epidermal growth factor (HBEGF) is expressed in podocytes and was shown to play a role in glomerular physiology. MicroRNA binding sites on the 3′UTR of HBEGF were predicted using miRWalk algorithm and ...
    • Article  

      A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR 

      Patsalis, Philippos C.; Tsaliki, Evdokia; Koumbaris, George L.; Karagrigoriou, Alex; Velissariou, Voula; Papageorgiou, Elisavet A. (2012)
      Introduction: Non-invasive prenatal diagnosis (NIPD) of Down syndrome is rapidly evolving. Currently, two applications for NIPD of Down syndrome have been developed with potential and have displayed positive results
    • Article  

      Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients 

      Ritis, K.; Giaglis, Stavros; Spathari, N.; Micheli, A.; Zonios, D.; Tzoanopoulos, D.; Constantinou-Deltas, Constantinos D.; Rafail, S.; Mean, R.; Papadopoulos, Vassilios P.; Tzioufas, A. G.; Moutsopoulos, H. M.; Kartalis, G. (2004)
      Background: The MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined. ...
    • Article  

      Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families. 

      Koptides, Michael; Mean, R.; Demetriou, Kyproula; Constantinides, Rolandos; Pierides, Alkis M.; Harris, Peter C.; Constantinou-Deltas, Constantinos D. (2000)
      Mutations in the PKD1 gene account for approximately 85% of cases with autosomal dominant polycystic kidney disease (ADPKD1
    • 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 ...