Browsing by Subject "disease severity"

Now showing items 1-11 of 11

    • Article  

      COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. Glomerular epithelium destruction via basement membrane thinning? 

      Voskarides, Konstantinos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2008)
      The recent description of multiple gene defects in hereditary podocytopathies and in hereditary glomerular basement membrane diseases has dramatically improved the current state of our knowledge on the renal glomerular ...
    • Article  

      Computerized texture analysis of carotid plaque ultrasonic images can identify unstable plaques associated with ipsilateral neurological symptoms 

      Kakkos, Stavros K.; Nicolaïdes, Andrew N.; Kyriacou, Efthyvoulos C.; Daskalopoulou, Stella Styliani; Sabetai, Michael; Pattichis, Constantinos S.; Geroulakos, George; Griffin, Maura B.; Thomas, Dominique (2011)
      We estimated the value of objective, computerized texture analysis of ultrasonic images in distinguishing carotid plaques associated with neurological ipsilateral symptoms (amaurosis fugax [AmF
    • Article  

      DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome 

      Savige, J.; Ars, E.; Cotton, R. G. H.; Crockett, D.; Dagher, H.; Constantinou-Deltas, Constantinos D.; Ding, J.; Flinter, F.; Pont-Kingdon, G.; Smaoui, N.; Torra, R.; Storey, H. (2014)
      X-linked Alport syndrome is a form of progressive renal failure caused by pathogenic variants in the COL4A5 gene. More than 700 variants have been described and a further 400 are estimated to be known to individual ...
    • 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  

      Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria 

      Voskarides, Konstantinos; Arsali, Maria; Athanasiou, Yiannis; Elia, Avraam; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2012)
      Background Familial hematuria (FH) is associated with at least two pathological entities: Thin basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/ COL4A4 mutations, and C3 nephropathy caused by CFHR5 ...
    • Article  

      A family with the branchio-oto-renal syndrome: Clinical and genetic correlations 

      Pierides, Alkis M.; Athanasiou, Yiannis; Demetriou, Kyproula; Koptides, Michael; Constantinou-Deltas, Constantinos D. (2002)
      Background. The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% ...
    • Article  

      Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease 

      Magistroni, R.; He, N.; Wang, K.; Andrew, R.; Johnson, A.; Gabow, P.; Dicks, E.; Parfrey, P.; Torra, R.; San-Millan, J. L.; Coto, E.; Van Dijk, M.; Breuning, M.; Peters, D.; Bogdanova, N.; Ligabue, G.; Albertazzi, A.; Hateboer, N.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D.; St. George-Hyslop, P.; Ravine, D.; Pei, Y. (2003)
      Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the disease in approximately 80 to ...
    • 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  

      Mutations of the human polycystic kidney disease 2 (PKD2) gene 

      Constantinou-Deltas, Constantinos D. (2001)
      Autosomal dominant polycystic kidney disease (ADPKD) is an inherited nephropathy, usually of late onset (onset between third to seventh decade), primarily characterized by the formation of fluid-filled cysts in the kidneys. ...
    • 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  

      Texture Analysis of Ultrasonic Images of Symptomatic Carotid Plaques can Identify Those Plaques Associated with Ipsilateral Embolic Brain Infarction 

      Kakkos, Stavros K.; Stevens, J. M.; Nicolaïdes, Andrew N.; Kyriacou, Efthyvoulos C.; Pattichis, Constantinos S.; Geroulakos, George; Thomas, Dominique (2007)
      Objectives: The aim of our study was to determine the association between objective, computerised texture analysis of carotid plaque ultrasonic images and embolic CT-brain infarction in patients presenting with hemispheric ...