Browsing by Author "Constantinou-Deltas, Constantinos D."

Now showing items 41-60 of 135

    • 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 ...
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      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  

      Erratum: Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus (American Journal Medical Genetics (1996) 64 (234-238)) 

      Syrrou, Maria; Patsalis, Philippos C.; Georgiou, Ioannis A.; Hadjimarcou, Michael I.; Constantinou-Deltas, Constantinos D.; Pagoulatos, G. (1996)
    • 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  

      A European spectrum of pharmacogenomic biomarkers: Implications for clinical pharmacogenomics 

      Mizzi, C.; Dalabira, E.; Kumuthini, J.; Dzimiri, N.; Balogh, István; Başak, N.; Böhm, R.; Borg, J.; Borgiani, P.; Bozina, N.; Bruckmueller, H.; Burzynska, B.; Carracedo, A.; Cascorbi, I.; Constantinou-Deltas, Constantinos D.; Dolzan, V.; Fenech, A.; Grech, G.; Kasiulevicius, V.; Kádaši, L.; Kučinskas, V.; Khusnutdinova, E.; Loukas, Y. L.; Macek, M.; Makukh, H.; Mathijssen, R.; Mitropoulos, K.; Mitropoulou, C.; Novelli, G.; Papantoni, I.; Pavlovic, S.; Saglio, G.; Setric, J.; Stojiljkovic, M.; Stubbs, A. P.; Squassina, A.; Torres, M.; Turnovec, M.; Van Schaik, R. H.; Voskarides, Konstantinos; Wakil, S. M.; Werk, A.; Zompo, M. D.; Zukic, B.; Katsila, T.; Lee, M. T. M.; Motsinger-Rief, A.; Leod, H. L. M.; Van Der Spek, P. J.; Patrinos, G. P. (2016)
      Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug ...
    • Article  

      Evidence for activation of the unfolded protein response in collagen iv nephropathies 

      Pieri, Myrtani; Stefanou, Charalambos; Zaravinos, Apostolos; Erguler, K.; Stylianou, Konstantinos G.; Lapathitis, Georgios; Karaiskos, Christos; Savva, Isavella; Paraskeva, Revekka; Dweep, H.; Sticht, C.; Anastasiadou, Natassa; Zouvani, Ioanna; Goumenos, Dimitrios S.; Felekkis, Kyriacos N.; Saleem, M.; Voskarides, Konstantinos; Gretz, N.; Constantinou-Deltas, Constantinos D. (2014)
      Thin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. These nephropathies invariably present with microscopic hematuria and ...
    • Article  

      Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus 

      Lamnissou, Klea; Zirogiannis, P.; Trygonis, S.; Demetriou, Kyproula; Pierides, Alkis M.; Koptides, Michael; Constantinou-Deltas, Constantinos D. (2004)
      Nitric oxide (NO) is thought to be an important factor in the deterioration of renal function. A variable-number tandem 27-bp repeat in intron 4 of the endothelial cell nitric oxide synthase (NOS3) gene has been found to ...
    • Article  

      Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the hellenic population of Greece and Cyprus 

      Syrrou, Maria; Patsalis, Philippos C.; Georgiou, Ioannis A.; Hadjimarcou, Michael I.; Constantinou-Deltas, Constantinos D.; Pagoulatos, G. (1996)
      The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene provides evidence of a ...
    • 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  

      Expression of type I procollagen genes. 

      Prockop, D. J.; Kadler, K. E.; Hojima, Y.; Constantinou-Deltas, Constantinos D.; Dombrowski, K. E.; Kuivaniemi, H.; Tromp, G.; Vogel, B. (1988)
      All of the type I collagen in connective tissue is the product of one structural gene for the pro alpha 1(I) chain and another for the pro alpha 2(I) chain of type I procollagen. An intriguing question therefore is how the ...
    • Article  

      Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees 

      Athanasiou, Yiannis; Voskarides, Konstantinos; Gale, D. P.; Damianou, Loukas; Patsias, Charalambos; Zavros, Michalis; Maxwell, P. H.; Cook, H. T.; Demosthenous, Panayiota; Hadjisavvas, Andreas; Kyriacou, Kyriacos C.; Zouvani, Ioanna; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2011)
      Background and objectives Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss of function mutations lead to a glomerulopathy with isolated mesangial C3 ...
    • Article  

      Familial Mediterranean Fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus 

      Constantinou-Deltas, Constantinos D.; Mean, R.; Rossou, Elena; Costi, Constantina Eleni; Koupepidou, P.; Hadjiyanni, I.; Koptides, Michael; Hadjiroussos, V.; Petrou, P.; Pierides, Alkis M.; Lamnissou, Klea; Koptides, M. (2002)
      Familial Mediterranean Fever (FMF) is an autosomal recessive disease of high prevalence within Mediterranean countries and particularly common in four ethnic populations: Arabs, non-Ashkenazi Jews, Armenians, and Turks. ...
    • Article  

      Familial Mediterranean fever associated pyrin mutations in Greece 

      Print Email Konstantopoulos, Konstantinos; Kanta, Alexandra; Constantinou-Deltas, Constantinos D.; Atamian, V.; Mavrogianni, D.; Tzioufas, A. G.; Kollainis, I.; Ritis, K.; Moutsopoulos, H. M. (2003)
      Objective: To search for pyrin mutations associated with familial Mediterranean fever (FMF) in Greece. Patients and methods: 62 patients fulfilling the Tel Hashomer diagnostic criteria for definite (33) or probable (29) ...
    • 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  

      Founder mutations in the ATP6V1B1 geneexplain most cypriot cases of distal renal tubular acidosis: First prenatal diagnosis 

      Elia, Avraam; Voskarides, Konstantinos; Demosthenous, Panayiota; Michalopoulou, A.; Malliarou, M. -A; Georgaki, Eleni; Athanasiou, Yiannis; Patsias, Charalambos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2011)
      Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any ...
    • Article  

      Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing 

      Papazachariou, Louiza; Demosthenous, Panayiota; Pieri, Myrtani; Papagregoriou, Gregory N.; Savva, Isavella; Stavrou, Christoforos V.; Zavros, Michalis; Athanasiou, Yiannis; Ioannou, Kyriakos; Patsias, Charalambos; Panagides, Alexia; Potamitis, Costas; Demetriou, Kyproula; Prikis, Marios; Hadjigavriel, Michalis; Kkolou, Maria; Loukaidou, Panayiota; Pastelli, Androulla; Michael, Aristos; Lazarou, Akis; Arsali, Maria; Damianou, Loukas; Goutziamani, Ioanna; Soloukides, Andreas P.; Yioukas, Lakis; Elia, Avraam; Zouvani, Ioanna; Polycarpou, Polycarpos; Pierides, Alkis M.; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2014)
      Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families ...
    • Article  

      Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing 

      Papazachariou, Louiza; Demosthenous, Panayiota M.; Pieri, Myrtani; Papagregoriou, Gregory N.; Savva, Isavella; Stavrou, Christoforos V.; Zavros, Michalis; Athanasiou, Yiannis; Ioannou, Kyriakos; Patsias, Charalambos; Panagides, Alexia; Potamitis, Costas; Demetriou, Kyproula; Prikis, Marios; Hadjigavriel, Michalis; Kkolou, Maria; Loukaidou, Panayiota; Pastelli, Androulla; Michael, Aristos; Lazarou, Akis; Arsali, Maria; Damianou, Loukas; Goutziamani, Ioanna; Soloukides, Andreas P.; Yioukas, Lakis; Elia, Avraam; Zouvani, Ioanna; Polycarpou, Polycarpos; Pierides, Alkis M.; Voskarides, Konstantinos A.; Constantinou-Deltas, Constantinos D. (2014)
      Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families ...
    • 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  

      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)
    • Article  

      Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease 

      Koptides, Michael; Mean, R.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2000)
      Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by mutations in PKD1 and PKD2, respectively, are very ...