Browsing by Author "Papagregoriou, Gregory"

Now showing items 1-7 of 7

    • 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  

      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  

      Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease 

      Živná, Martina; Kidd, Kendrah; Přistoupilová, Anna; Barešová, Veronika; DeFelice, Mathew; Blumenstiel, Brendan; Harden, Maegan; Conlon, Peter; Lavin, Peter; Connaughton, Dervla M.; Hartmannová, Hana; Hodaňová, Kateřina; Stránecký, Viktor; Vrbacká, Alena; Živný, Jan; Votruba, Miroslav; Sovová, Jana; Hůlková, Helena; Robins, Victoria; Perry, Rebecca; Wenzel, Andrea; Beck, Bodo B.; Seeman, Tomáš; Viklický, Ondřej; Rajnochová-Bloudíčková, Sylvie; Papagregoriou, Gregory; Deltas, Constantinos C.; Alper, Seth L.; Greka, Anna; Bleyer, Anthony J.; Kmoch, Stanislav; Vyleťal, Petr (2018)
      Visual Overview <img class="highwire-fragment fragment-image" alt="Figure1" src="https://jasn.asnjournals.org/content/jnephrol/29/9/2418/F1.medium.gif" width="440" height="320"/>Download figureOpen in new tabDownload ...
    • 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. ...
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      Rampant introgressive hybridization in Pogoniulus tinkerbirds (Piciformes: Lybiidae) despite millions of years of divergence 

      Nwankwo, Emmanuel C.; Mortega, Kim G.; Karageorgos, Athanasios; Ogolowa, Bridget O.; Papagregoriou, Gregory; Grether, Gregory F.; Monadjem, Ara; Kirschel, Alexander N. G. (2019)
      Abstract. Incomplete reproductive isolation between related species of birds at contact zones is increasingly being documented. Such hybridization typically oc
    • 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 ...