2021

• Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. (2021) Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. Eur J Hum Genet. (8):1186-1197. doi: 10.1038/s41431-021-00858-1.

2020

• Odiatis C, Savva I, Pieri M, Ioannou P, Petrou P, Papagregoriou G, Antoniadou K, Makrides N, Stefanou C, Ljubanović DG, Nikolaou G, Borza DB, Stylianou K, Gross O, Deltas C (2020) Matrix Biol Plus.  9:100053; doi: 10.1016/j.mbplus.2020.100053 
• Matthaiou Α, Poulli Τ, Deltas C (2020) Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review. Clinical Kidney Journal. https://doi.org/10.1093/ckj/sfz176; doi: 10.1093/ckj/sfz176
• Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, Kipp A, Bonny O, Deltas C, Demoulin N, Fehr T, Fuster DG, Gale DP, Goffin E, Hodanova K, Hyunh-Do U, Kistler AD, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Živná M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ Sr, Devuyst O (2020) Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. Kidney Int 22:S0085-2538(20)30539-1. doi: 10.1016/j.kint.2020.04.038.
• Christofides A, Papagregoriou G, Dweep H, Makrides N, Gretz N, Felekkis K, Deltas C. (2020) Evidence for miR-548c-5p regulation of FOXC2 transcription through a distal genomic target site in human podocytes. Cell Mol Life Sci.; 77(12):2441-2459. doi: 10.1007/s00018-019-03294-z. 
• Živná M, Kidd K, Zaidan M, Vyleťal P, Barešová V, Hodaňová K, Sovová J, Hartmannová H, Votruba M, Trešlová H, Jedličková I, Sikora J, Hůlková H, Robins V, Hnízda A, Živný J, Papagregoriou G, Mesnard L, Beck BB, Wenzel A, Tory K, Häeffner K, Wolf MTF, Bleyer ME, Sayer JA, Ong ACM, Balogh L, Jakubowska A, Łaszkiewicz A, Clissold R, Shaw-Smith C, Munshi R, Haws RM, Izzi C, Capelli I, Santostefano M, Graziano C, Scolari F, Sussman A, Trachtman H, Decramer S, Matignon M, Grimbert P, Shoemaker LR, Stavrou C, Abdelwahed M, Belghith N, Sinclair M, Claes K, Kopel T, Moe S, Deltas C, Knebelmann B, Rampoldi L, Kmoch S, Bleyer AJ (2020) An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes. Kidney Int S0085-2538(20)30838-3. doi: 10.1016/j.kint.2020.06.041.
• Żurowska AM, Bielska O, Daca-Roszak P, Jankowski M, Szczepańska M, Roszkowska-Bjanid D, Kuźma-Mroczkowska E, Pańczyk-Tomaszewska M, Moczulska A, Drożdż D, Hadjipanagi D, Deltas C, Ostalska-Nowicka D, Rabiega A, Taraszkiewicz J, Taranta-Janusz K, Wieczorkiewicz-Plaza A, Jobs K, Mews J, Musiał K, Jakubowska A, Nosek H, Jander AE, Koutsofti C, Stanisławska-Sachadyn A, Kuleszo D, Ziętkiewicz E, Lipska-Ziętkiewicz BS (2020) Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife. Kidney Int. 2020 Dec 10:S0085-2538(20)31410-1. doi: 10.1016/j.kint.2020.10.040. Online ahead of print.PMID: 33309955  doi: https://doi.org/10.1016/j.kint.2020.10.040

2019

• Dvela-Levitt M, Kost-Alimova M, Emani M, Kohnert E, Thompson R, Sidhom E-H, Ana Rivadeneira, Nareh Sahakian, Roignot J, Papagregoriou G, Montesinos MS, Clark AR, McKinney D, Gutierrez J, Roth M, Ronco L, Elonga E, Carter TA, Gnirke A, Melanson M, Hartland K, Wieder N, Hsu JC-H, Deltas C, Hughey R, Bleyer AJ, Kmoch S, Zivna M, Baresova V, Kota S, Schlondorff J, Heiman M, Alper SL, Wagner F, Weins A, Golub TR, Lander ES, Greka A (2019) Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy. Cell 178(3):52-535. e23. doi: 10.1016/j.cell.2019.07.002 PubMed Link
• Frangou E, Varnavidou-Nicolaidou A, Petousis P, Soloukides A, Theophanous E, Savva I, Michael N, Toumasi E, Georgiou D, Stylianou G, Mean R, Anastasiadou N, Athanasiou Y, Zavros M, Kyriacou K, Deltas C, Hadjianastassiou V (2019) Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy. Nephrrol Dial Transplant 2019 Mar 7. pii: gfz021. doi: 10.1093/ndt/gfz021.  PubMed Link
• Christofides A, Papagregoriou G, Dweep H, Makrides N, Gretz N, Felekkis K, Deltas C (2019) Evidence for miR-548c-5p regulation of FOXC2 transcription through a distal genomic target site in human podocytes. Cell Mol Life Sci. In Press. doi: 10.1007/s00018-019-03294-z. PMID: 31531679 PubMed Link

2018

• Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H (2018) Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Pediatr Nephrol 2018 Jul 9. doi: 10.1007/s00467-018-3985-4. PubMed Link
• Deltas C. Digenic inheritance and genetic modifiers. Clin Genet. 2018 Mar;93(3):429-438. doi: 10.1111/cge.13150. Epub 2018 Jan 25. PubMed Link
• Kalogerou M, Kolovos P, Prokopiou E, Papagregoriou G, Deltas C, Malas S, Georgiou T (2018) Omega-3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model.Exper Eye Res 167:128-139. PubMed Link
• Zivna M, Kidd K, Pristoupilova A,1 Barešova V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannova H, Hodanova K, Stranecký V, Vrbacka A, Vyleťal P, Zivný J, Votruba M, Sovova J, Hůlkova H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochova-Bloudickova S, Papagregoriou G, Deltas C, Alper SL, Greka A, Bleyer AJ, Kmoch S (2018) Noninvasive immunohistochemical diagnosis and novel MUC1 mutations causing autosomal dominant tubulointerstitial kidney disease. J Am Soc Nephrol 2018. DOI: 10.1681/ASN.2018020180 PubMed Link
• Voskarides K, Papagregoriou G, Hadjipanagi D, Petrou I, Savva I, Elia A, Athanasiou Y, Pastelli A, Kkolou M, Hadjigavriel M, Stavrou C, Pierides A, Deltas C (2018) COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect? BMC Nephrol 19:114.DOI 10.1186/s12882-018-0906-5 PubMed Link

2017

• Nagara M, Papagregoriou G, Ben Abdallah R, Landoulsi Z, Bouyacoub Y, Elouej S, Kefi R, Pippucci T, Voskarides K, Bashamboo A, McElreavey K, Hachicha M, Romeo G, Seri M, Deltas C, Abdelhak S (2018) Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. Eur J Med Genet 2017 Oct 9. pii: S1769-7212(16)30259-2. doi: 10.1016/j.ejmg.2017.10.002. PubMed Link
• Papazachariou L, Papagregoriou G, Hadjipanagi D, Demosthenous P, Voskarides K, Koutsofti C, Stylianou K, Ioannou P, Xydakis D, Tzanakis I, Papadaki A, Kallivretakis N, Nikolakakis N, Perysinaki G, Gale DP, Diamantopoulos A, Goudas P, Goumenos D, Soloukides A, Boletis I, Melexopoulou C, Georgaki E, Frysira F, Komianou F, Grekas G, Paliouras C, Alivanis A, Vergoulas G, Pierides A, Dafnis E, Deltas C (2017) Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis. Clin Genet 2017 92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25. PubMed Link
• Prokopiou E, Kolovos P, Kalogerou M, Neokleous N, Papagregoriou G, Deltas C, Malas S, Georgiou T (2017) Therapeutic potential of omega-3 fatty acids supplementation in a mouse model of dry macular degeneration. BMJ Open Ophth 2017. Jun 19;1(1):e000056. doi: 10.1136/bmjophth-2016-000056 PubMed Link
• Voskarides K, Stefanou C, Pieri M, Demosthenous P, Felekkis K, Arsali M, Athanasiou Y, Xydakis D, Stylianou K, Daphnis E, Goulielmos G, Loizou P, Savige J, Höhne8 M, Völker LA, Benzing T, Maxwell PH, Gale DP, Gorski M, Böger K, Kollerits B, Kronenberg F, Paulweber B, Zavros M, Pierides A, Deltas C (2017) A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population. PLoS One 2017 Mar 23;12(3):e0174274. doi: 10.1371/journal.pone.0174274. eCollection 2017 Mar 23. PubMed Link
• Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Setric J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP (2016) A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PLoS One. 2017 Feb 16;12(2):e0172595. doi: 10.1371/journal.pone.0172595. eCollection 2017. PubMed Link

2016

• Savva I, Pierides A, Deltas C. RAAS inhibition and the course of Alport syndrome. Pharmacol Res. 2016 Mar 16;107:205-210. PubMed Link
• Voskarides K, Mazières S, Hadjipanagi D, Di Cristofaro J, Ignatiou A, Stefanou C, King RJ, Underhill PA, Chiaroni J, Deltas C. Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements. Investig Genet. 2016 Feb 11;7:1. eCollection 2016. PubMed Link

2015

• Stefanou C, Pieri M, Savva I, Georgiou G, Pierides A, Voskarides K, Deltas C. Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. Nephron. 2015;130(3):200-12. PubMed Link
• Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report. Kidney Int. 2015 Oct;88(4):676-83. PubMed Link

2014

• Gross O, Perin L, Deltas C. Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS-blockade and the horizon of future therapies. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv124-30. PubMed Link
  
• The International Alport Mutation Consortium, Savige J, Ars E, Cotton RG, Crockett D, Dagher H, Deltas C, Ding J, Flinter F, Pont-Kingdon G, Smaoui N, Torra R, Storey H. DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr Nephrol. 2014 Jun;29(6):971-7. PubMed Link
  
• Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodaňová K, Vyleťal P, Živná M, Hart TC, Hart PS. Variable clinical presentation of a MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. PubMed Link
  
• Zaravinos A, Pieri M, Mourmouras N, Anastasiadou N, Zouvani I, Delakas I, Deltas C. Altered metabolic pathways in clear cell renal cell carcinoma: A meta-analysis and validation study focused on the deregulated genes and their associated networks. Oncoscience. 2014 Jan 3;1(2):117-31. PubMed Link *Figure 2 of the paper was chosen as a cover for the second issue of Oncoscience.
• Papazachariou L, Demosthenous P, Pieri M, Papagregoriou G, Savva I, StavrouC, Zavros M, Athanasiou Y, Ioannou K, Patsias C, PanagidesA, Potamitis P, Demetriou K, Prikis M, Hadjigavriel M, KkolouM, Loukaidou P, Pastelli A, Michael A, LazarouA, Arsali M, Damianou L, Goutziamani I, Soloukides A, Yioukas L, Elia A, Zouvani I, Polycarpou P, Pierides A, Voskarides K, Deltas C. 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. PLoS One. 2014 Dec 16;9(12):e115015. PubMed Link
• Erguler K, Pieri P, Deltas C. A mathematical model of the unfolded protein stress response reveals the decision mechanism for recovery adaptation and apoptosis. BMC Syst Biol. 2013 Feb 21;7:16. PubMed Link
• Deltas C, Pierides A, Voskarides K. Molecular genetics of familial hematuric diseases. Nephrol Dial Transplant. 2013 Dec;28(12):2946-2960. PubMed Link
• Pieri Μ, Stefanou C, Zaravinos A, Erguler K, Stylianou C, Lapathitis G, Karaiskos C, Savva I, Paraskeva R, Dweep H, Sticht C, Anastasiadou N, Zouvani I, Goumenos D, Felekkis K, Saleem M, Voskarides K, Gretz N, Deltas C. Evidence for activation of the unfolded protein response in collagen IV nephropathies. J Am Soc Nephrol. 2014 Feb;25(2):260-75. PubMed Link
• Zaravinos A, Lambrou GI, Mourmouras N, Katafygiotis P, Papagregoriou G, Giannikou K, Delakas D, Deltas C. New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney. PLoS One 2014 Mar 12;9(3):e91646. PubMed Link

2013

• Voskarides K, Demosthenous P, Papazachariou L, Arsali M, Athanasiou Y, Zavros M, Stylianou K, Xydakis D, Daphnis E, Gale DP, Maxwell PH, Elia A, Pattaro C, Pierides A, Deltas C. Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes. PLoS One 2013;8(3):e57925. PubMed Link
• Deltas C, Gale D, Cook T, Voskarides K, Athanasiou Y, Pierides A. C3 Glomerulonephritis/CFHR5 Nephropathy Is an Endemic Disease in Cyprus: Clinical and Molecular Findings in 21 Families. Adv Exp Med Biol. 2013;735:189-96. PubMed Link

2012

• Deltas C, Voskarides K, Demosthenous P, Papazachariou L, Zirogiannis P, Pierides A. The power of molecular genetics in establishing the diagnosis and offering prenatal testing: The case for Alport Syndrome. Diseases of Renal Parenchyma (2012) ISBN: 978-953-51-0245-8. Link
• Papagregoriou G, Erguler K, Dweep H, Voskarides K, Koupepidou P, Athanasiou Y, Pierides A, Gretz N, Felekkis KN, Deltas C. A miR-1207-5p Binding Site Polymorphism Abolishes Regulation of HBEGF and Is Associated with Disease Severity in CFHR5 Nephropathy. PLoS One 2012; 7(2):e31021. PubMed Link
• Deltas C, Pierides A, Voskarides K. The role of molecular genetics in diagnosing familial hematuria(s). Pediatr Nephrol. 2012 Aug;27(8):1221-31. PubMed Link
• Felekkis K, Voskarides K, Dweep H, Sticht C, Gretz N, Deltas C. Increased number of microRNA target sites in genes encoded in CNV regions. Evidence for an evolutionary genomic interaction? Mol Biol Evol. 2011 Sep;28(9):2421-4. PubMed Link
• Demosthenous P, Voskarides K, Stylianou K, Hadjigavriel M, Arsali M, Patsias C, Georgaki E, Zirogiannis P, Stavrou C, Daphnis E, Pierides A, Deltas C, the Hellenic Nephrogenetics Research Consortium. X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5. Clin Genet. 2012 Mar;81(3):240-8. PubMed Link

2011

• Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani I, Pierides A, Deltas C. Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees. ClinJ Am Soc Nephrol. 2011 Jun;6(6):1436-46. PubMed Link
• Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet 2010 Sep 4;376(9743):794-801. Pubmed Link
• Koupepidou P, Felekkis KN, Kränzlin B, Sticht C, Gretz N, Deltas C. Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways. BMC Nephrol. Sep 2;11:23. PubMed Link

2010

• Deltas C. Small and Big Countries and the Sharing of Expertise and Biological Samples Under a New Perspective. The Place for Biobanks and Core Facilities Austral-Asian. Journal of Cancer (2010) 9 135-136.
• Liu M, Shi S, Senthilnathan S, Yu J, Wu E, Bergmann C, Zerres K, Bogdanova N, Coto E, Deltas C. Genetic Variation of DKK3 May Modify Renal Disease Severity in ADPKD. J Am Soc Nephrol. 2010 Sep;21 (9):1510-20. PubMed Link

2009

• Pierides A, Voskarides K, Athanasiou Y, Ioannou K, Damianou L, Arsali M, Zavros M, Pierides M, Vargemezis V, Patsias C, Zouvani I, Elia A, Kyriacou K, Deltas C. Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis. Nephrol Dial Transplant. 2009 Sep;24(9):2721-9. PubMed Link
• Voskarides K, Deltas C. Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches. J Mol Diagn. 2009 Jul;11(4):311-8. PubMed Link
• Deltas C. Thin basement membrane nephropathy: is there genetic predisposition to more severe disease? Pediatr Nephrol. 2009 Apr;24(4):877-9. PubMed Link

2008

• Voskarides K, Makariou C, Papagregoriou G, Stergiou N, Printza N, Alexopoulos E, Elia A, Papachristou F, Pierides A, Georgaki E, Deltas C. NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome. Pediatr Nephrol. 2008 Aug;23(8):1373-5. PubMed Link
• Felekkis KN, Koupepidou P, Kastanos E, Witzgall R, Bai C, Li L, Tsiokas L, Gretz N, Deltas C. Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2. BMC Nephrol. 2008 Aug 25;9:10. PubMed Link

2007

• Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C. COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J Am Soc Nephrol. 2007 Nov; 18(11):3004-16. PubMed LinkIt was featured in the Highlights of this issue while a special invited Editorial by CE Kashtan was published in the same issue commenting on the results. Also, this paper was included in the list of papers recommended for reading, by the Nephrology, Dialysis, Transplantation Journal, issue of November 2007.