Browsing by Author "Deltas, Constantinos"

Now showing items 1-10 of 10

    • 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  

      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  

      Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom [3] 

      Yiallouros, Panayiotis K.; Neocleous, Vassos; Zenios, Michalis; Adamidou, D.; Costi, Constantina; Christophi, C.; Tzetis, M.; Kanavakis, E.; Deltas, Constantinos (2007)
    • 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  

      Evidence for miR-548c-5p regulation of FOXC2 transcription through a distal genomic target site in human podocytes 

      Christofides, Andrea; Papagregoriou, Gregory; Dweep, Harsh; Makrides, Neoklis; Gretz, Norbert; Felekkis, Kyriacos; Deltas, Constantinos (2020)
      Podocytes are highly differentiated epithelial cells outlining the glomerular vessels. FOXC2 is a transcription factor essential for inducing podocyte differentiation, development and maturation, and is considered to be ...
    • Article  

      Expert consensus guidelines for the genetic diagnosis of Alport syndrome 

      Savige, Judy; Ariani, Francesca; Mari, Francesca; Bruttini, Mirella; Renieri, Alessandra; Gross, Oliver; Deltas, Constantinos; Flinter, Frances; Ding, Jie; Gale, Daniel P.; Nagel, Mato; Yau, Michael; Shagam, Lev; Torra, Roser; Ars, Elisabet; Hoefele, Julia; Garosi, Guido; Storey, Helen (2019)
      Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments. In individuals with suspected Alport syndrome, all three ...
    • Article  

      Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1 

      Koptides, M.; Constantinides, R.; Kyriakides, George K.; Hadjigavriel, Michael; Patsalis, Philippos C.; Pierides, A.; Deltas, Constantinos (1998)
      Loss of heterozygosity (LOH) is a molecular phenomenon that denotes the loss of one of the two alleles at a specific locus. It is frequently associated with tumour suppressor genes in various cancers and also with ...
    • Book Chapter  

      Nephrogenetics and Nephrodiagnostics 

      Deltas, Constantinos (John Wiley & Sons, Ltd, 2018)
      Recent technological developments have revolutionized contemporary molecular diagnostics, while next-generation sequencing (NGS) for DNA analysis has become an integral part of delivery of modern medicine. Nephrogenetics ...
    • Article  

      Omega-3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model 

      Kalogerou, Maria; Kolovos, Panagiotis; Prokopiou, Ekatherine; Papagregoriou, Gregory; Deltas, Constantinos; Malas, Stavros; Georgiou, Tassos (2018)
      The purpose of this study was to evaluate the neuroprotective effects of omega-3 polyunsaturated fatty acid (ω3-PUFA) supplementation, alone or in combination with timolol eye drops, in a mouse model of hereditary glaucoma. ...
    • Article  

      Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy 

      Dvela-Levitt, Moran; Kost-Alimova, Maria; Emani, Maheswarareddy; Kohnert, Eva; Thompson, Rebecca; Sidhom, Eriene-Heidi; Rivadeneira, Ana; Sahakian, Nareh; Roignot, Julie; Papagregoriou, Gregory; Montesinos, Monica S.; Clark, Abbe R.; McKinney, David; Gutierrez, Juan; Roth, Mark; Ronco, Lucienne; Elonga, Esther; Carter, Todd A.; Gnirke, Andreas; Melanson, Michelle; Hartland, Kate; Wieder, Nicolas; Hsu, Jane C.-H.; Deltas, Constantinos; Hughey, Rebecca; Bleyer, Anthony J.; Kmoch, Stanislav; Živná, Martina; Barešova, Veronika; Kota, Savithri; Schlondorff, Johannes; Heiman, Myriam; Alper, Seth L.; Wagner, Florence; Weins, Astrid; Golub, Todd R.; Lander, Eric S.; Greka, Anna (2019)
      Intracellular accumulation of misfolded proteins causes toxic proteinopathies, diseases without targeted therapies. Mucin 1 kidney disease (MKD) results from a frameshift mutation in the MUC1 gene (MUC1-fs). Here, we show ...