Browsing Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences by Author "Nagara, Majdi"

Now showing items 1-3 of 3

    • Article  

      Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance 

      Nagara, Majdi; Papagregoriou, Gregory; Ben Abdallah, Rim; Landoulsi, Zied; Bouyacoub, Yosra; Elouej, Sahar; Kefi, Rym; Pippucci, Tommaso; Voskarides, Konstantinos; Bashamboo, Anu; McElreavey, Kenneth; Hachicha, Mongia; Romeo, Giovanni; Seri, Marco; Deltas, Constantinos; Abdelhak, Sonia (2018)
      Aim of the study Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations ...
    • Article  

      Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations 

      Nagara, Majdi; Voskarides, Konstantinos; Nouira, S.; Ben Halim, N.; Kefi Ben Atig, Rym; Aloulou, Hajer; Romdhane, L.; Ben Abdallah, R.; Ben Rhouma, F.; Aissa, K.; Boughamoura, L.; Kammoun, T.; Azzouz, H.; Abroug, S.; Ben Turkia, H.; Ayadi, A.; Mrad, R.; Chabchoub, I.; Hachicha, M.; Chemli, J.; Constantinou-Deltas, Constantinos D.; Abdelhak, S. (2014)
      BACKGROUND: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant ...
    • Article  

      A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family 

      Nagara, Majdi; Voskarides, Konstantinos; Elouej, S.; Zaravinos, Apostolos; Riahi, Zied; Papagregoriou, Gregory N.; Kefi Ben Atig, Rym; Boussetta, Khadija; Constantinou-Deltas, Constantinos D.; Abdelhak, S.; Tinsa, Faten (2015)