Browsing Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences by Subject "Kidney"

Now showing items 1-4 of 4

    • 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  

      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  

      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  

      Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 

      Bleyer, A. J.; Kmoch, S.; Antignac, C.; Robins, V.; Kidd, K.; Kelsoe, J. R.; Hladik, G.; Klemmer, P.; Knohl, S. J.; Scheinman, S. J.; Vo, N.; Santi, A.; Harris, A.; Canaday, O.; Weller, N.; Hulick, P. J.; Vogel, K.; Rahbari-Oskoui, F. F.; Tuazon, J.; Constantinou-Deltas, Constantinos D.; Somers, D.; Megarbane, A.; Kimmel, P. L.; Sperati, C. J.; Orr-Urtreger, A.; Ben-Shachar, S.; Waugh, D. A.; Mcginn, S.; Bleyer Jr., A. J.; Hodaňová, K.; Vyletal, P.; Živná, M.; Hart, T. C.; Hart, P. S. (2014)
      Background and objectives The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a ...