The Center of Excellence (CoE) takes great pride in being a repository for a diverse array of scientific papers. This extensive collection encompasses a broad spectrum of research and scholarly work, reflecting the depth and breadth of our commitment to fostering intellectual exploration and innovation.

 

Updated on 2024/04/08

 

2024

  • European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (2024). Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. Lancet (London, England), 403(10421), 55–66. https://doi.org/10.1016/S0140-6736(23)01842-1

2023

  • Fountoglou, A., Deltas, C., Siomou, E., & Dounousi, E. (2023). Genome-wide association studies reconstructing chronic kidney disease. Nephrology, dialysis, transplantation, gfad209. https://doi.org/10.1093/ndt/gfad209
  • Apostolou, F., Ioannides, M., Mitsis, A., Koutsofti, C., Deltas, C., & Avraamides, P. (2023). Case report: Aborted sudden cardiac death as a first presentation of severe mitral annulus disjunction-a case series and review of the literature. Frontiers in cardiovascular medicine, 10, 1171226. https://doi.org/10.3389/fcvm.2023.1171226
  • Petzold, F., Billot, K., Chen, X., Henry, C., Filhol, E., Martin, Y., Avramescu, M., Douillet, M., Morinière, V., Krug, P., Jeanpierre, C., Tory, K., Boyer, O., Burgun, A., Servais, A., Salomon, R., Benmerah, A., Heidet, L., Garcelon, N., Antignac, C., … INSERM–Necker Hospital NPH collaborative group (2023). The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies. Kidney international, 104(2), 378–387. https://doi.org/10.1016/j.kint.2023.05.007
  • Deltas, C.; Papagregoriou, G.; Louka, S.F.; Malatras, A.; Flinter, F.; Gale, D.P.; Gear, S.; Gross, O.; Hoefele, J.; Lennon, R.; et al. (2023) Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice. Genes, 14, 1686. https://doi.org/10.3390/genes14091686
  • Sarkis, M., Minassian, G., Mitri, N., Rahme, K., Fracasso, G., El Hage, R., and Ghanem, E. (2023). D2B-Functionalized Gold Nanoparticles: Promising Vehicles for Targeted Drug Delivery to Prostate Cancer. ACS Applied Bio Materials 6, 819-827. https://doi.org/10.1021/acsabm.2c00975
  • Mitri, N., Rahme, K., Fracasso, G., and Ghanem, E. (2023). Upgrading gold to green nanoparticles: applications in prostate cancer. Advances in Natural Sciences: Nanoscience and Nanotechnology 14, 023001. https://doi.org/10.1088/2043-6262/acd0aa
  • Müller, H., Lopes-Dias, C., Holub, P., Plass, M., Jungwirth, E., Reihs, R., Torke, P. R., Malatras, A., Berger, A., Coombs, H., Dillner, J., & Merino-Martinez, R. (2023). BIBBOX, a FAIR toolbox and App Store for life science research. New biotechnology, 77, 12–19. Advance online publication. https://doi.org/10.1016/j.nbt.2023.06.001
  • Plass, M., Kargl, M., Kiehl, T. R., Regitnig, P., Geißler, C., Evans, T., Zerbe, N., Carvalho, R., Holzinger, A., & Müller, H. (2023). Explainability and causability in digital pathology. The journal of pathology. Clinical research, 9(4), 251–260. https://doi.org/10.1002/cjp2.322
  • Borbolis, F., Ranti, D., Papadopoulou, M. D., Dimopoulou, S., Malatras, A., Michalopoulos, I., & Syntichaki, P. (2023). Selective Destabilization of Transcripts by mRNA Decapping Regulates Oocyte Maturation and Innate Immunity Gene Expression during Ageing in C. elegans. Biology, 12(2), 171. https://doi.org/10.3390/biology12020171
  • Zogopoulos, V. L., Malatras, A., Kyriakidis, K., Charalampous, C., Makrygianni, E. A., Duguez, S., Koutsi, M. A., Pouliou, M., Vasileiou, C., Duddy, W. J., Agelopoulos, M., Chrousos, G. P., Iconomidou, V. A., & Michalopoulos, I. (2023). HGCA2.0: An RNA-Seq Based Webtool for Gene Coexpression Analysis in Homo sapiens. Cells, 12(3), 388. https://doi.org/10.3390/cells12030388

2022

  • Hadjipanagi, D., Papagregoriou, G., Koutsofti, C., Polydorou, C., Alivanis, P., Andrikos, A., Christodoulidou, S., Dardamanis, M., Diamantopoulos, A. A., Fountoglou, A., Frangou, E., Georgaki, E., Giannikouris, I., Gkinis, V., Goudas, P. C., Kalaitzidis, R. G., Kaperonis, N., Koutroumpas, G., Makrydimas, G., Myserlis, G., … Deltas, C. (2022). Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece. Genes, 13(12), 2203. https://doi.org/10.3390/genes13122203
  • Pieri, M., Theori, E., Dweep, H., Flourentzou, M., Kalampalika, F., Maniori, M. A., Papagregoriou, G., Papaneophytou, C., & Felekkis, K. (2022). A bovine miRNA, bta-miR-154c, withstands in vitro human digestion but does not affect cell viability of colorectal human cell lines after transfection. FEBS open bio, 12(5), 925–936. https://doi.org/10.1002/2211-5463.13402
  • Nikolaou, S., & Deltas, C. (2022). A Comparative Presentation of Mouse Models That Recapitulate Most Features of Alport Syndrome. Genes, 13(10), 1893. https://doi.org/10.3390/genes13101893
  • Müller, H., Holzinger, A., Plass, M., Brcic, L., Stumptner, C., & Zatloukal, K. (2022). Explainability and causability for artificial intelligence-supported medical image analysis in the context of the European In Vitro Diagnostic Regulation. New biotechnology, 70, 67–72. https://doi.org/10.1016/j.nbt.2022.05.002
  • Nicolas Franchitto 1, Vincent Bounes, Norbert Telmon, Daniel Rougé Mitral valve prolapse and out-of-hospital sudden death: a case report and literature review
    https:doi.org/10.1258/msl.2010.100033
  • Gibson, J. T., Huang, M., Shenelli Croos Dabrera, M., Shukla, K., Rothe, H., Hilbert, P., Deltas, C., Storey, H., Lipska-Ziętkiewicz, B. S., Chan, M. M. Y., Sadeghi-Alavijeh, O., Gale, D. P., Genomics England Research Consortium, Cerkauskaite, A., & Savige, J. (2022). Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome. Scientific reports, 12(1), 2722. https://doi.org/10.1038/s41598-022-06525-9
  • Daga, S., Ding, J., Deltas, C., Savige, J., Lipska-Ziętkiewicz, B. S., Hoefele, J., Flinter, F., Gale, D. P., Aksenova, M., Kai, H., Perin, L., Barua, M., Torra, R., Miner, J. H., Massella, L., Ljubanović, D. G., Lennon, R., Weinstock, A. B., Knebelmann, B., Cerkauskaite, A., … Renieri, A. (2023). Correction: The 2019 and 2021 International workshops on Alport syndrome. European journal of human genetics : EJHG, 10.1038/s41431-023-01286-z. Advance online publication. https://doi.org/10.1038/s41431-023-01286-z
  • Barberis E, Khoso S, Sica A, Falasca M, Gennari A, Dondero F, Afantitis A, Manfredi M. (2022). Precision Medicine Approaches with Metabolomics and Artificial Intelligence. International Journal of Molecular Sciences. ; 23(19):11269. https://doi.org/10.3390/ijms231911269
  • Deltas, C. (2022). POS-435 NEXT GENERATION SEQUENCING IDENTIFIES CANDIDATE GENETIC MODIFIERS POTENTIALLY EXACERBATING KIDNEY DISEASE IN COL4A3/A4 HETEROZYGOUS PATIENTS. Kidney International Reports 7, S194. https://doi.org/10.1016/j.ekir.2022.01.462
  • Holzinger, A., Kargl, M., Kipperer, B., Regitnig, P., Plass, M., and Muller, H. (2022). Personas for Artificial Intelligence (AI) an Open Source Toolbox. IEEE Access 10. https://doi.org/10.1109/access.2022.3154776
  • Zogopoulos, V. L., Malatras, A., & Michalopoulos, I. (2022). Gene coexpression analysis in Arabidopsis thaliana based on public microarray data. STAR protocols, 3(1), 101208. https://doi.org/10.1016/j.xpro.2022.101208
  • Spohn, S. K. B., Draulans, C., Kishan, A. U., Spratt, D., Ross, A., Maurer, T., Tilki, D., Berlin, A., Blanchard, P., Collins, S., Bronsert, P., Chen, R., Pra, A. D., de Meerleer, G., Eade, T., Haustermans, K., Hölscher, T., Höcht, S., Ghadjar, P., Davicioni, E., … Deltas, C., … Zamboglou, C. (2023). Genomic Classifiers in Personalized Prostate Cancer Radiation Therapy Approaches: A Systematic Review and Future Perspectives Based on International Consensus. International journal of radiation oncology, biology, physics, 116(3), 503–520. https://doi.org/10.1016/j.ijrobp.2022.12.038
  • Palles, C., West, H. D., Chew, E., Galavotti, S., Flensburg, C., Grolleman, J. E., Jansen, E. A. M., Curley, H., Chegwidden, L., Arbe-Barnes, E. H., Lander, N., Truscott, R., Pagan, J., Bajel, A., Sherwood, K., Martin, L., Thomas, H., Georgiou, D., Fostira, F., Goldberg, Y., …, Deltas C., … de Voer, R. M. (2022). Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. American journal of human genetics, 109(5), 953–960. https://doi.org/10.1016/j.ajhg.2022.03.018
  • Homeyer, A., Geißler, C., Schwen, L.O. , …, Plass, M., …, Müller, H., … Recommendations on compiling test datasets for evaluating artificial intelligence solutions in pathology. Mod Pathol 35, 1759–1769 (2022). https://doi.org/10.1038/s41379-022-01147-y
  • Kargl, M., Plass, M., & Müller, H. (2022). A Literature Review on Ethics for AI in Biomedical Research and Biobanking. Yearbook of medical informatics, 31(1), 152–160. https://doi.org/10.1055/s-0042-1742516
  • Plass, M., Kargl, M., Nitsche, P., Jungwirth, E., Holzinger, A., & Muller, H. (2022). Understanding and Explaining Diagnostic Paths: Toward Augmented Decision Making. IEEE computer graphics and applications, 42(6), 47–57. https://doi.org/10.1109/MCG.2022.3197957
  • Zogopoulos, V. L., Saxami, G., Malatras, A., Papadopoulos, K., Tsotra, I., Iconomidou, V. A., & Michalopoulos, I. (2022). Approaches in Gene Coexpression Analysis in Eukaryotes. Biology, 11(7), 1019. https://doi.org/10.3390/biology11071019
  • Spiliotaki, M., Neophytou, C. M., Vogazianos, P., Stylianou, I., Gregoriou, G., Constantinou, A. I., Deltas, C., & Charalambous, H. (2022). Dynamic monitoring of PD-L1 and Ki67 in circulating tumor cells of metastatic non-small cell lung cancer patients treated with pembrolizumab. Molecular oncology, 17(5), 792–809. https://doi.org/10.1002/1878-0261.13317

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. https://doi.org/10.1038/s41431-021-00858-1
  • 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 (2021). A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome. Matrix Biol Plus. 9:100053;  https://doi.org/10.1016/j.mbplus.2020.100053
  • Mamais I, Malatras A, Papagregoriou G, Giallourou N, Kakouri AC, Karayiannis P, Koliou M, Christaki E, Nikolopoulos GK, Deltas C. (2021). Circulating IgG Levels in SARS-CoV-2 Convalescent Individuals in Cyprus. Journal of Clinical Medicine. 10(24):5882. https://doi.org/10.3390/jcm10245882
  • Antoniades, A., Papaioannou, M., Malatras, A., Papagregoriou, G., Muller, H., Holub, P., Deltas, C., and Schizas, C.N. (2021). Integration of Biobanks in National eHealth Ecosystems Facilitating Long-Term Longitudinal Clinical-Omics Studies and Citizens’ Engagement in Research Through eHealthBioR. Front Digit Health 3, 628646. https://doi.org/10.3389/fdgth.2021.628646
  • Morgan, S., Malatras, A., Duguez, S., & Duddy, W. (2021). Optimized Molecular Interaction Networks for the Study of Skeletal Muscle. Journal of neuromuscular diseases, 8(s2), S223–S239. https://doi.org/10.3233/JND-210680
  • A. Holzinger and H. Muller, (2021). Toward Human–AI Interfaces to Support Explainability and Causability in Medical AI. Computer, vol. 54, no. 10, pp. 78-86, https://doi.ieeecomputersociety.org/10.1109/MC.2021.3092610
  • Kaya Akyüz, Gauthier Chassang, Melanie Goisauf, Łukasz Kozera, Signe Mezinska, Olga Tzortzatou & Michaela Th. Mayrhofer. (2021). Biobanking and risk assessment: a comprehensive typology of risks for an adaptive risk governance. Life Sci Soc Policy 17, 10. https://doi.org/10.1186/s40504-021-00117-7
  • Savige, J., Lipska-Zietkiewicz, B. S., Watson, E., Hertz, J. M., Deltas, C., Mari, F., Hilbert, P., Plevova, P., Byers, P., Cerkauskaite, A., Gregory, M., Cerkauskiene, R., Ljubanovic, D. G., Becherucci, F., Errichiello, C., Massella, L., Aiello, V., Lennon, R., Hopkinson, L., Koziell, A., … Flinter, F. (2022). Guidelines for Genetic Testing and Management of Alport Syndrome. Clinical journal of the American Society of Nephrology : CJASN, 17(1), 143–154. https://doi.org/10.2215/CJN.04230321
  • Ioannou, A., Ioannides, M., Eftychiou, C., Christophides, T., Pitsis, A., Koutsofti, C., Polydorou, C., Papageorgiou, G., Deltas, C., and Avraamides, P. (2021). Mitral Valve Prolapse and out-of-hospital cardiac arrest: A case report and literature review. https://doi.org/10.22541/au.163448201.18664469/v1

2020

  • 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
  • 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. https://doi.org/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. https://doi.org/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. https://doi.org/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.  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. https://doi.org/10.1016/j.cell.2019.07.002
  • 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. https://doi.org/10.1093/ndt/gfz021
  • Malatras, A., Duguez, S. & Duddy, W. Muscle Gene Sets: a versatile methodological aid to functional genomics in the neuromuscular field. Skeletal Muscle 9, 10 (2019). https://doi.org/10.1186/s13395-019-0196-z

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 Jul 9. https://doi.org/10.1007/s00467-018-3985-4
  • Deltas C. (2018). Digenic inheritance and genetic modifiers. Clin Genet. Mar;93(3):429-438. Epub 2018 Jan 25. https://doi.org/10.1111/cge.13150
  • 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. https://doi.org/10.1016/j.exer.2017.12.005
  • 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. https://doi.org/10.1681/asn.2018020180
  • 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. https://doi.org/10.1186/s12882-018-0906-5
  • 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 Oct 9. pii: S1769-7212(16)30259-2. https://doi.org/10.1016/j.ejmg.2017.10.002

2017

  • 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. https://doi.org/10.1111/cge.13077
  • 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. Jun 19;1(1):e000056. https://doi.org/10.1136/bmjophth-2016-000056
  • 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. https://doi.org/10.1371/journal.pone.0174274

2016


  • Savva I, Pierides A, Deltas C. (2016). RAAS inhibition and the course of Alport syndrome. Pharmacol Res. Mar 16;107:205-210. https://doi.org/10.1016/j.phrs.2016.03.017
  • Voskarides K, Mazières S, Hadjipanagi D, Di Cristofaro J, Ignatiou A, Stefanou C, King RJ, Underhill PA, Chiaroni J, Deltas C. (2016). 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. https://doi.org/10.1186/s13323-016-0032-8
  • 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. Feb 16;12(2):e0172595. https://doi.org/10.1371/journal.pone.0162866

2015


  • Stefanou C, Pieri M, Savva I, Georgiou G, Pierides A, Voskarides K, Deltas C. (2015). Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure. Nephron. 130(3):200-12. https://doi.org/10.1159/000432406
  • 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. (2015). Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report. Kidney Int. Oct;88(4):676-83. https://doi.org/10.1038/ki.2015.28

2014

  • Gross O, Perin L, Deltas C. (2014). Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS-blockade and the horizon of future therapies. Nephrol Dial Transplant. Sep;29 Suppl 4:iv124-30. https://doi.org/10.1093/ndt/gfu028
  • 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. (2014). DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr Nephrol. Jun;29(6):971-7. https://doi.org/10.1007/s00467-013-2486-8
  • 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. (2014). Variable clinical presentation of a MUC1 mutation causing medullary cystic kidney disease type 1. Clin J Am Soc Nephrol. Mar;9(3):527-35. https://doi.org/10.2215/cjn.06380613
  • Zaravinos A, Pieri M, Mourmouras N, Anastasiadou N, Zouvani I, Delakas I, Deltas C. (2014). 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. Jan 3;1(2):117-31. https://doi.org/10.18632/oncoscience.13 *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. (2014). 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. Dec 16;9(12):e115015. https://doi.org/10.1371/journal.pone.0115015
  • 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. https://doi.org/10.1186/1752-0509-7-16
  • Deltas C, Pierides A, Voskarides K. Molecular genetics of familial hematuric diseases. Nephrol Dial Transplant. 2013 Dec;28(12):2946-2960. https://doi.org/10.1093/ndt/gft253
  • 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. (2014) Evidence for activation of the unfolded protein response in collagen IV nephropathies. J Am Soc Nephrol.  Feb;25(2):260-75. https://doi.org/10.1681/asn.2012121217
  • Zaravinos A, Lambrou GI, Mourmouras N, Katafygiotis P, Papagregoriou G, Giannikou K, Delakas D, Deltas C. (2014) New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney. PLoS One Mar 12;9(3):e91646. https://doi.org/10.1371/journal.pone.0091646

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. (2013). Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes. PLoS One ;8(3):e57925. https://doi.org/10.1371/journal.pone.0057925
  • Erguler K, Pieri P, Deltas C. (2013). A mathematical model of the unfolded protein stress response reveals the decision mechanism for recovery adaptation and apoptosis. BMC Syst Biol. Feb 21;7:16. https://doi.org/10.1186/1752-0509-7-16
  • Deltas C, Pierides A, Voskarides K. (2013). Molecular genetics of familial hematuric diseases. Nephrol Dial Transplant. Dec;28(12):2946-2960. https://doi.org/10.1093/ndt/gft253
  • Deltas C, Gale D, Cook T, Voskarides K, Athanasiou Y, Pierides A. (2013). 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. https://doi.org/10.1007/978-1-4614-4118-2_12

2012

  • Deltas C, Voskarides K, Demosthenous P, Papazachariou L, Zirogiannis P, Pierides A. (2012). The power of molecular genetics in establishing the diagnosis and offering prenatal testing: The case for Alport Syndrome. Diseases of Renal Parenchyma 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. (2012). A miR-1207-5p Binding Site Polymorphism Abolishes Regulation of HBEGF and Is Associated with Disease Severity in CFHR5 Nephropathy. PLoS One 7(2):e31021. https://doi.org/10.1371/journal.pone.0031021
  • Deltas C, Pierides A, Voskarides K. The role of molecular genetics in diagnosing familial hematuria(s). Pediatr Nephrol. 2012 Aug;27(8):1221-31. https://doi.org/10.1007/s00467-011-1935-5
  • 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. (2012). X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.Clin Genet. Mar;81(3):240-8. https://doi.org/10.1111/j.1399-0004.2011.01647.x

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. (2011 ). Familial C3 Glomerulopathy Associated with CFHR5 Mutations: Clinical Characteristics of 91 Patients in 16 Pedigrees. ClinJ Am Soc Nephrol. Jun;6(6):1436-46. https://doi.org/10.2215/cjn.09541010
  • Felekkis K, Voskarides K, Dweep H, Sticht C, Gretz N, Deltas C. (2011). Increased number of microRNA target sites in genes encoded in CNV regions. Evidence for an evolutionary genomic interaction? Mol Biol Evol. Sep;28(9):2421-4. https://doi.org/10.1093/molbev/msr078
  • Koupepidou P, Felekkis KN, Kränzlin B, Sticht C, Gretz N, Deltas C.  (2011). Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways. BMC Nephrol. Sep 2;11:23. https://doi.org/10.1186/1471-2369-11-23

2010

  • Deltas C. (2010). 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 9 135-136.
  • 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. (2010). 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. https://doi.org/10.1016/s0140-6736(10)60670-8
  • Liu M, Shi S, Senthilnathan S, Yu J, Wu E, Bergmann C, Zerres K, Bogdanova N, Coto E, Deltas C. (2010) Genetic Variation of DKK3 May Modify Renal Disease Severity in ADPKD. J Am Soc Nephrol. Sep;21 (9):1510-20. https://doi.org/10.1681/asn.2010030237

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. (2009). 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. Sep;24(9):2721-9. https://doi.org/10.1093/ndt/gfp158
  • Voskarides K, Deltas C. (2009). Screening for mutations in kidney-related genes using SURVEYOR nuclease for cleavage at heteroduplex mismatches. J Mol Diagn. Jul;11(4):311-8. https://doi.org/10.2353/jmoldx.2009.080144
  • Deltas C. (2009). Thin basement membrane nephropathy: is there genetic predisposition to more severe disease? Pediatr Nephrol. Apr;24(4):877-9. https://doi.org/10.1007/s00467-008-1042-4

2008

  • Voskarides K, Makariou C, Papagregoriou G, Stergiou N, Printza N, Alexopoulos E, Elia A, Papachristou F, Pierides A, Georgaki E, Deltas C. (2008). NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome. Pediatr Nephrol.  Aug;23(8):1373-5. https://doi.org/10.1007/s00467-008-0804-3
  • Felekkis KN, Koupepidou P, Kastanos E, Witzgall R, Bai C, Li L, Tsiokas L, Gretz N, Deltas C. (2008). 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. Aug 25;9:10. https://doi.org/10.1186/1471-2369-9-10

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. (2007). COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy. J Am Soc Nephrol. Nov; 18(11):3004-16. https://doi.org/10.1681/asn.2007040444 It 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.