Electron Microscopy and Molecular Pathology Department


Publications (since 2014)

  1. Christou, C.M., Hadjisavvas, A., Kyratzi, M., Flouri, C., Neophytou, I., Anastasiadou, V., Loizidou, M.A. & Kyriacou, K. The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer. PLoS One 9, e93400 (2014). 
  2. Loizidou, M.A., Neophytou, I., Papamichael, D., Kountourakis, P., Vassiliou, V., Marcou, Y., Kakouri, E., Ioannidis, G., Philippou, C., Spanou, E. et al. The mutational spectrum of Lynch syndrome in cyprus. PLoS One 9, e105501 (2014). 
  3. Sokratous K, Hadjisavvas A, Diamandis EP, Kyriacou K. The role of ubiquitin-binding domains in human pathophysiology. Crit Rev Clin Lab Sci, Early Online: 1–11, 2014 Informa Healthcare USA, Inc. DOI: 10.3109/10408363.2014.915287. 
  4. Oikonomopoulou, K., Brinc, D., Hadjisavvas, A., Christofi, G., Kyriacou, K. & Diamandis, E.P. The bifacial role of helminths in cancer: involvement of immune and non-immune mechanisms. Crit Rev Clin Lab Sci 51, 138-48 (2014). 
  5. Sokratous, K., Hadjisavvas, A., Diamandis, E.P. & Kyriacou, K. The role of ubiquitin-binding domains in human pathophysiology. Crit Rev Clin Lab Sci 51, 280-90 (2014).
  6. Demetriou, C.A., van Veldhoven, K., Relton, C., Stringhini, S., Kyriacou, K. & Vineis, P. Biological embedding of early-life exposures and disease risk in humans: a role for DNA methylation. Eur J Clin Invest 45, 303-32 (2015). 
  7. Demetriou, C.A. & Vineis, P. Carcinogenicity of ambient air pollution: use of biomarkers, lessons learnt and future directions. J Thorac Dis 7, 67-95 (2015). 
  8. Kagiava, A., Theophilidis, G., Sargiannidou, I., Kyriacou, K. & Kleopa, K.A. Oxaliplatin-induced neurotoxicity is mediated through gap junction channels and hemichannels and can be prevented by octanol. Neuropharmacology 97, 289-305 (2015). 
  9. Kakkoura, M.G., Demetriou, C.A., Loizidou, M.A., Loucaides, G., Neophytou, I., Marcou, Y., Hadjisavvas, A. & Kyriacou, K. Single-nucleotide polymorphisms in one-carbon metabolism genes, Mediterranean diet and breast cancer risk: a case-control study in the Greek-Cypriot female population. Genes Nutr 10, 453 (2015). 
  10. Schiza, N., Sargiannidou, I., Kagiava, A., Karaiskos, C., Nearchou, M. & Kleopa, K.A. Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model. Hum Mol Genet 24, 2049-64 (2015). 
  11. Tanteles, G.A., Nicolaou, M., Neocleous, V., Shammas, C., Loizidou, M.A., Alexandrou, A., Ellina, E., Patsia, N., Sismani, C., Phylactou, L.A. et al. Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. J Genet 94, 749-54 (2015). 
  12. Yiallouros, P.K., Kouis, P., Middleton, N., Nearchou, M., Adamidi, T., Georgiou, A., Eleftheriou, A., Ioannou, P., Hadjisavvas, A. & Kyriacou, K. Clinical features of primary ciliary dyskinesia in Cyprus with emphasis on lobectomized patients. Respir Med 109, 347-56 (2015). 
  13. Darabi, H., Beesley, J., Droit, A., Kar, S., Nord, S., Moradi Marjaneh, M., Soucy, P., Michailidou, K., Ghoussaini, M., Fues Wahl, H. et al. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). Sci Rep 6, 32512 (2016). 
  14.  de la Hoya, M., Soukarieh, O., Lopez-Perolio, I., Vega, A., Walker, L.C., van Ierland, Y., Baralle, D., Santamarina, M., Lattimore, V., Wijnen, J. et al. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet 25, 2256-2268 (2016). 
  15. Dorling, L., Barnett, G.C., Michailidou, K., Coles, C.E., Burnet, N.G., Yarnold, J., Elliott, R.M., Dunning, A.M., Pharoah, P.D. & West, C.M. Patients with a High Polygenic Risk of Breast Cancer do not have An Increased Risk of Radiotherapy Toxicity. Clin Cancer Res 22, 1413-20 (2016). 
  16. Dorling, L., Kar, S., Michailidou, K., Hiller, L., Vallier, A.L., Ingle, S., Hardy, R., Bowden, S.J., Dunn, J.A., Twelves, C. et al. The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study. PLoS One 11, e0158984 (2016). 
  17.  Easton, D.F., Lesueur, F., Decker, B., Michailidou, K., Li, J., Allen, J., Luccarini, C., Pooley, K.A., Shah, M., Bolla, M.K. et al. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J Med Genet 53, 298-309 (2016). 
  18. Gao, C., Patel, C.J., Michailidou, K., Peters, U., Gong, J., Schildkraut, J., Schumacher, F.R., Zheng, W., Boffetta, P., Stucker, I. et al. Mendelian randomization study of adiposity-related traits and risk of breast, ovarian, prostate, lung and colorectal cancer. Int J Epidemiol 45, 896-908 (2016). 
  19. Gazouli, M., Wouters, M.M., Kapur-Pojskic, L., Bengtson, M.B., Friedman, E., Nikcevic, G., Demetriou, C.A., Mulak, A., Santos, J. & Niesler, B. Lessons learned--resolving the enigma of genetic factors in IBS. Nat Rev Gastroenterol Hepatol 13, 77-87 (2016).
  20. Ghoussaini, M., French, J.D., Michailidou, K., Nord, S., Beesley, J., Canisus, S., Hillman, K.M., Kaufmann, S., Sivakumaran, H., Moradi Marjaneh, M. et al. Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation. Am J Hum Genet 99, 903-911 (2016). 
  21. Hamdi, Y., Soucy, P., Adoue, V., Michailidou, K., Canisius, S., Lemacon, A., Droit, A., Andrulis, I.L., Anton-Culver, H., Arndt, V. et al. Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21. Oncotarget 7, 80140-80163 (2016). 
  22. Kagiava, A., Sargiannidou, I., Theophilidis, G., Karaiskos, C., Richter, J., Bashiardes, S., Schiza, N., Nearchou, M., Christodoulou, C., Scherer, S.S. et al. Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy. Proc Natl Acad Sci U S A 113, E2421-9 (2016). 
  23. Kakkoura, M.G., Demetriou, C.A., Loizidou, M.A., Loucaides, G., Neophytou, I., Malas, S., Kyriacou, K. & Hadjisavvas, A. MnSOD and CAT polymorphisms modulate the effect of the Mediterranean diet on breast cancer risk among Greek-Cypriot women. Eur J Nutr 55, 1535-44 (2016). 
  24. Liu, J., Loncar, I., Collee, J.M., Bolla, M.K., Dennis, J., Michailidou, K., Wang, Q., Andrulis, I.L., Barile, M., Beckmann, M.W. et al. rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk. Sci Rep 6, 36874 (2016). 
  25. Loizidou, M.A., Hadjisavvas, A., Tanteles, G.A., Spanou-Aristidou, E., Kyriacou, K. & Christophidou-Anastasiadou, V. Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report. Oncol Lett 11, 471-473 (2016). 
  26. Manoli, P., Antoniou, A., Bashiardes, E., Xenophontos, S., Photiades, M., Stribley, V., Mylona, M., Demetriou, C. & Cariolou, M.A. Sex-specific age association with primary DNA transfer. Int J Legal Med 130, 103-12 (2016). 
  27. Muranen, T.A., Blomqvist, C., Dork, T., Jakubowska, A., Heikkila, P., Fagerholm, R., Greco, D., Aittomaki, K., Bojesen, S.E., Shah, M. et

al. Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium. Breast Cancer Res 18, 98 (2016). 

  • Oikonomopoulou, K., Yu, H., Wang, Z., Vasiliou, S.K., Brinc, D., Christofi, G., Theodorou, M., Pavlou, P., Hadjisavvas, A., Demetriou, C.A. et al. Association between Echinococcus granulosus infection and cancer risk - a pilot study in Cyprus. Clin Chem Lab Med 54, 1955-1961 (2016). 
  • Barrdahl, M., Rudolph, A., Hopper, J.L., Southey, M.C., Broeks, A., Fasching, P.A., Beckmann, M.W., Gago-Dominguez, M., Castelao, J.E., Guenel, P. et al. Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium. Int J Cancer 141, 1830-1840 (2017). 
  • Dardiotis, E., Panayiotou, E., Provatas, A., Christodoulou, K., Hadjisavvas, A., Antoniades, A., Lourbopoulos, A., Pantzaris, M., Grigoriadis, N., Hadjigeorgiou, G.M. et al. Gene variants of adhesion molecules act as modifiers of disease severity in MS. Neurol Neuroimmunol Neuroinflamm 4, e350 (2017).
  • Day, F.R., Thompson, D.J., Helgason, H., Chasman, D.I., Finucane, H., Sulem, P., Ruth, K.S., Whalen, S., Sarkar, A.K., Albrecht, E. et al. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nat Genet 49, 834-841 (2017). 
  • Demetriadou, A., Morales-Sanfrutos, J., Nearchou, M., Baba, O., Kyriacou, K., Tate, E.W., Drousiotou, A. & Petrou, P.P. Mouse Stbd1 is N-myristoylated and affects ER-mitochondria association and mitochondrial morphology. J Cell Sci 130, 903-915 (2017).
  • Fagerholm, R., Khan, S., Schmidt, M.K., Garcia-Closas, M., Heikkila, P., Saarela, J., Beesley, J., Jamshidi, M., Aittomaki, K., Liu, J. et al. TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer. Oncotarget 8, 18381-18398 (2017).
  • Fella, E., Sokratous, K., Papacharalambous, R., Kyriacou, K., Phillips, J., Sanderson, S., Panayiotou, E. & Kyriakides, T. Pharmacological Stimulation of Phagocytosis Enhances Amyloid Plaque Clearance; Evidence from a Transgenic Mouse Model of ATTR Neuropathy. Front Mol Neurosci 10, 138 (2017). 
  • Georgiou, A., Demetriou, C.A., Heraclides, A., Christou, Y.P., Leonidou, E., Loukaides, P., Yiasoumi, E., Panagiotou, D., Manoli, P., Thomson, P. et al. Mitochondrial superclusters influence age of onset of Parkinson's disease in a gender specific manner in the Cypriot population: A case-control study. PLoS One 12, e0183444 (2017). 
  • Hadjichristou, C., Christophidou-Anastasiadou, V., Bakopoulou, A., Tanteles, G.A., Loizidou, M.A., Kyriacou, K., Hadjisavvas, A., Michalakis, K., Pissiotis, A. & Koidis, P. Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations. Int J Prosthodont 30, 280-285 (2017). 
  • Jiao, X., Aravidis, C., Marikkannu, R., Rantala, J., Picelli, S., Adamovic, T., Liu, T., Maguire, P., Kremeyer, B., Luo, L. et al. PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1. Oncotarget 8, 102769-102782 (2017). 
  • Kakkoura, M.G., Loizidou, M.A., Demetriou, C.A., Loucaides, G., Daniel, M., Kyriacou, K. & Hadjisavvas, A. The synergistic effect between the Mediterranean diet and GSTP1 or NAT2 SNPs decreases breast cancer risk in Greek-Cypriot women. Eur J Nutr 56, 545-555 (2017). 
  • Kakkoura, M.G., Sokratous, K., Demetriou, C.A., Loizidou, M.A., Loucaides, G., Kakouri, E., Hadjisavvas, A. & Kyriacou, K. Mediterranean diet-gene interactions: A targeted metabolomics study in Greek-Cypriot women. Mol Nutr Food Res 61(2017). 
  • Kouis, P., Hadjisavvas, A., Middleton, N., Papatheodorou, S.I., Kyriacou, K. & Yiallouros, P.K. The effect of l-Arginine on Ciliary Beat Frequency in PCD patients, non-PCD respiratory patients and healthy controls. Pulm Pharmacol Ther (2017). 
  • Kouis, P., Yiallouros, P.K., Middleton, N., Evans, J.S., Kyriacou, K. & Papatheodorou, S.I. Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis. Pediatr Res 81, 398-405 (2017). 
  • 42.    Koutsoulidou, A., Photiades, M., Kyriakides, T.C., Georgiou, K., Prokopi, M., Kapnisis, K., Lusakowska, A., Nearchou, M., Christou, Y., Papadimas, G.K. et al. Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress. Hum Mol Genet 26, 3285-3302 (2017). 
  • Kyriacou, K. & Yiallouros, P. Editorial. Ultrastruct Pathol 41, 370-372 (2017). 
  • Kyriacou, K., Yiallouros, P.K., Kouis, P., Papatheodorou, S.I. & Omran, H. Better experimental screening and treatment for primary ciliary dyskinesia: The FP7 BESTCILIA project. Ultrastruct Pathol 41, 110-112 (2017). 
  • Loizidou, M.A., Hadjisavvas, A., Pirpa, P., Spanou, E., Delikurt, T., Tanteles, G.A., Daniel, M., Kountourakis, P., Malas, S., Ioannidis, G. et al. BRCA1 and BRCA2 mutation testing in Cyprus; a population based study. Clin Genet 91, 611-615 (2017). 
  • Michailidou, K., Lindstrom, S., Dennis, J., Beesley, J., Hui, S., Kar, S., Lemacon, A., Soucy, P., Glubb, D., Rostamianfar, A. et al. Association analysis identifies 65 new breast cancer risk loci. Nature 551, 92-94 (2017). 
  • Milne, R.L., Kuchenbaecker, K.B., Michailidou, K., Beesley, J., Kar, S., Lindstrom, S., Hui, S., Lemacon, A., Soucy, P., Dennis, J. et al. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nat Genet 49, 1767-1778 (2017). 
  • Muranen, T.A., Greco, D., Blomqvist, C., Aittomaki, K., Khan, S., Hogervorst, F., Verhoef, S., Pharoah, P.D.P., Dunning, A.M., Shah, M. et al. Genetic modifiers of CHEK2*1100delC-associated breast cancer risk. Genet Med 19, 599-603 (2017). 
  • Nicolaou, O., Kousios, A., Hadjisavvas, A., Lauwerys, B., Sokratous, K. & Kyriacou, K. Biomarkers of systemic lupus erythematosus identified using mass spectrometry-based proteomics: a systematic review. J Cell Mol Med 21, 993-1012 (2017). 
  • Ruiz-Pinto, S., Pita, G., Patino-Garcia, A., Alonso, J., Perez-Martinez, A., Carton, A.J., Gutierrez-Larraya, F., Alonso, M.R., Barnes, D.R., Dennis, J. et al. Exome array analysis identifies GPR35 as a novel susceptibility gene for anthracycline-induced cardiotoxicity in childhood cancer. Pharmacogenet Genomics 27, 445-453 (2017). 
  • Saloustros, E., Stark, D.P., Michailidou, K., Mountzios, G., Brugieres, L., Peccatori, F.A., Jezdic, S., Essiaf, S., Douillard, J.Y. & Bielack, S. The care of adolescents and young adults with cancer: results of the ESMO/SIOPE survey. ESMO Open 2, e000252 (2017).
  • Shaheed, S.U., Tait, C., Kyriacou, K., Mullarkey, J., Burrill, W., Patterson, L.H., Linforth, R., Salhab, M. & Sutton, C.W. Nipple aspirate fluid-A liquid biopsy for diagnosing breast health. Proteomics Clin Appl 11(2017). 
  • Shimelis, H., Mesman, R.L.S., Von Nicolai, C., Ehlen, A., Guidugli, L., Martin, C., Calleja, F., Meeks, H., Hallberg, E., Hinton, J. et al. BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. Cancer Res 77, 2789-2799 (2017). 
  • Votsi, C., Toufexis, C., Michailidou, K., Antoniades, A., Skordis, N., Karaolis, M., Pattichis, C.S. & Christodoulou, K. Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms. Genes (Basel) 8(2017
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