Browsing by Author "Savva, Isavella"

Now showing items 1-9 of 9

    • Article  

      Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: Report from the 2015 International Workshop on Alport Syndrome 

      Gross, O.; Kashtan, C. E.; Rheault, M. N.; Flinter, F.; Savige, J.; Miner, J. H.; Torra, R.; Ars, E.; Constantinou-Deltas, Constantinos D.; Savva, Isavella; Perin, L.; Renieri, A.; Ariani, F.; Mari, F.; Baigent, C.; Judge, P.; Knebelman, B.; Heidet, L.; Lagas, S.; Blatt, D.; Ding, J.; Zhang, Y.; Gale, D. P.; Prunotto, M.; Xue, Y.; Schachter, A. D.; Morton, L. C. G.; Blem, J.; Huang, M.; Liu, S.; Vallee, S.; Renault, D.; Schifter, J.; Skelding, J.; Gear, S.; Friede, T.; Turner, A. N.; Lennon, R. (2017)
      Alport syndrome (AS) is a genetic disease characterized by haematuric glomerulopathy variably associated with hearing loss and anterior lenticonus. It is caused by mutations in the COL4A3, COL4A4 or COL4A5 genes encoding ...
    • Article  

      Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life 

      Constantinou-Deltas, Constantinos D.; Savva, Isavella; Voskarides, Konstantinos; Papazachariou, Louiza; Pierides, Alkis M. (2015)
      Collagen IV nephropathies (COL4Ns) comprise benign familial microscopic hematuria, thin basement membrane nephropathy (TBMN), X-linked Alport syndrome (AS) and also autosomal recessive and dominant AS. Apart from the ...
    • Article  

      Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy 

      Frangou, Eleni; Varnavidou-Nicolaidou, Agathi; Petousis, Panayiotis; Soloukides, Andreas; Theophanous, Elena; Savva, Isavella; Michael, Nicos; Toumasi, Elpida; Georgiou, Dora; Stylianou, Galatia; Mean, Richard; Anastasiadou, Natasa; Athanasiou, Yiannis; Zavros, Michalis; Kyriacou, Kyriacos; Deltas, Constantinos; Hadjianastassiou, Vassilis (2019)
      AbstractBackground. Complement factor H-related protein 5 (CFHR5) nephropathy is an inherited renal disease characterized by microscopic and synpharyngitic mac
    • Article  

      Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure 

      Stefanou, Charalambos; Pieri, Myrtani; Savva, Isavella; Georgiou, Georgios C.; Pierides, Alkis M.; Voskarides, Konstantinos; Constantinou-Deltas, Constantinos D. (2015)
      BACKGROUND/AIMS: A subset of patients who present with proteinuria and are diagnosed with focal segmental glomerulosclerosis (FSGS) have inherited heterozygous COL4A3/A4 mutations and are also diagnosed with thin basement ...
    • Article  

      COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect? 

      Voskarides, Konstantinos; Papagregoriou, Gregory; Hadjipanagi, Despina; Petrou, Ioanelli; Savva, Isavella; Elia, Avraam; Athanasiou, Yiannis; Pastelli, Androulla; Kkolou, Maria; Hadjigavriel, Michalis; Stavrou, Christoforos; Pierides, Alkis; Deltas, Constantinos (2018)
      About 40–50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full ...
    • 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  

      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  

      RAAS inhibition and the course of Alport syndrome 

      Savva, Isavella; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2016)
      Alport syndrome (AS) is a hereditary progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD). Most patients will reach ESRD before the age of 30 years, while a subset of them with milder ...