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Molecular Genetics, Function & Therapy Department

Selected Publications

  1. Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.  Fanis P, Neocleous V, Papapetrou I, Phylactou LA, Skordis N.Int J Mol Sci. 2023 Nov 4;24(21):15965. doi: 10.3390/ijms242115965. Review. 

  2. Selective Delivery to Cardiac Muscle Cells Using Cell-Specific Aptamers. 
    Philippou S, Mastroyiannopoulos NP, Tomazou M, Oulas A, Ackers-Johnson M, Foo RS, Spyrou GM, Phylactou LA. Pharmaceuticals. 2023 Sep 6;16(9):1264. doi: 10.3390/ph16091264.

  3. RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.  Neocleous V, Fanis P, Frangos S, Skordis N, Phylactou LA. Life. 2023 Jun 6;13(6):1332. doi: 10.3390/life13061332.

  4. The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes. 
    Fanis P, Skordis N, Toumba M, Picolos M, Tanteles GA, Neocleous V, Phylactou LA. Front Endocrinol. 2023 May 31;14:1156616. doi:10.3389/fendo.2023.1156616.

  5. Methylation status of hypothalamic Mkrn3 promoter across puberty. 
    Fanis P, Morrou M, Tomazou M, Michailidou K, Spyrou GM, Toumba M, Skordis N, Neocleous V, Phylactou LA. Front Endocrinol. 2023 Jan 13;13:1075341. doi: 10.3389/fendo.2022.1075341. 

  6. A novel pathogenic variant in ZNF462 gene associated with Weiss-Kruszka syndrome and systemic lupus erythematosus.  Constantinou M, Lampi M, Parperis K, Neocleous V, Fanis P, Phylactou L, Psarelis S. Rheumatology (Oxford). 2023 Aug 1;62(8):e249-e250. doi: 10.1093/rheumatology/kead035. 

  7. Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene. Fanis P, Skordis N, Phylactou LA, Neocleous V. Hormones. 2023 Mar;22(1):71-77. doi: 10.1007/s42000-022-00410-w. 

  8. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.  Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus PM, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R.
    Endocr Connect. 2022 Nov 14;11(12):e220367. doi: 10.1530/EC-22-0367. 

  9. The Cyprus Institute of Neurology and Genetics, an emerging paradigm of a gender egalitarian organisation.  Xenophontos S, Zachariou M, Polycarpou P, Ioannidou E, Kazandjian V, Lagou M, Michaelidou A, Spyrou GM, Cariolou MA, Phylactou L. PLoS One. 2022 Sep 15;17(9):e0274356. doi: 10.1371/journal.pone.0274356. 

  10. Serum miRNAs as biomarkers for the rare types of muscular dystrophy. 
    Koutsoulidou A, Koutalianos D, Georgiou K, Kakouri AC, Oulas A, Tomazou M, Kyriakides TC, Roos A, Papadimas GK, Papadopoulos C, Kararizou E, Spyrou GM, Zamba Papanicolaou E, Lochmüller H, Phylactou LA. Neuromuscul Disord. 2022 Apr;32(4):332-346. doi: 10.1016/j.nmd.2022.03.003. 

  11. Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights. Kakouri AC, Koutalianos D, Koutsoulidou A, Oulas A, Tomazou M, Nikolenko N, Turner C, Roos A, Lusakowska A, Janiszewska K, Papadimas GK, Papadopoulos C, Kararizou E, Papanicolaou EZ, Gorman G, Lochmüller H, Spyrou GM, Phylactou LA. RNA Biol. 2022;19(1):507-518. doi: 10.1080/15476286.2022.2058817. 

  12. Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe. Nowotny H, Neumann U, Tardy-Guidollet V, Ahmed SF, Baronio F, Battelino T, Bertherat J, Blankenstein O, Bonomi M, Bouvattier C, Brac de la Perrière A, Brucker S, Cappa M, Chanson P, Claahsen-van der Grinten HL, Colao A, Cools M, Davies JH, Dörr HG, Fenske WK, Ghigo E, Giordano R, Gravholt CH, Huebner A, Husebye ES, Igbokwe R, Juul A, Kiefer FW, Léger J, Menassa R, Meyer G, Neocleous V, Phylactou LA, Rohayem J, Russo G, Scaroni C, Touraine P, Unger N, Vojtková J, Yeste D, Lajic S, Reisch N. Eur J Endocrinol. 2022 Mar 23;186(5):K17-K24. doi: 10.1530/EJE-21-0554.

  13. Age-Related Exosomal and Endogenous Expression Patterns of miR-1, miR-133a, miR-133b, and miR-206 in Skeletal Muscles. Mytidou C, Koutsoulidou A, Zachariou M, Prokopi M, Kapnisis K, Spyrou GM, Anayiotos A, Phylactou LA. Front Physiol. 2021 Nov 18;12:708278. doi: 10.3389/fphys.2021.708278. 

  14. Intramuscular Evaluation of Chimeric Locked Nucleic Acid/2'OMethyl-Modified Antisense Oligonucleotides for Targeted Exon 23 Skipping in Mdx Mice.  Georgiadou M, Christou M, Sokratous K, Wengel J, Michailidou K, Kyriacou K, Koutsoulidou A, Mastroyiannopoulos NP, Phylactou LA. Pharmaceuticals. 2021 Oct 30;14(11):1113. doi: 10.3390/ph14111113.

  15. Molecular modelling of novel ADCY3 variant predicts a molecular target for tackling obesity. Toumba M, Fanis P, Vlachakis D, Neocleous V, Phylactou LA, Skordis N, Mantzoros CS, Pantelidou M. Int J Mol Med. 2022 Jan;49(1):10. doi: 10.3892/ijmm.2021.5065. 

  16. miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1. Koutalianos D, Koutsoulidou A, Mytidou C, Kakouri AC, Oulas A, Tomazou M, Kyriakides TC, Prokopi M, Kapnisis K, Nikolenko N, Turner C, Lusakowska A, Janiszewska K, Papadimas GK, Papadopoulos C, Kararizou E, Spyrou GM, Gourdon G, Zamba Papanicolaou E, Gorman G, Anayiotos A, Lochmüller H, Phylactou LA. Mol Ther Methods Clin Dev. 2021 Sep 14;23:169-183. doi: 10.1016/j.omtm.2021.09.007. 

  17. Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.  Neocleous V, Fanis P, Toumba M, Gorka B, Kousiappa I, Tanteles GA, Iasonides M, Nicolaides NC, Christou YP, Michailidou K, Nicolaou S, Papacostas SS, Christoforidis A, Kyriakou A, Vlachakis D, Skordis N, Phylactou LA.Front Endocrinol. 2021 Sep 24;12:745048. doi: 10.3389/fendo.2021.745048. 

  18. Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry. Yiallouros PK, Matthaiou AΜ, Anagnostopoulou P, Kouis P, Libik M, Adamidi T, Eleftheriou A, Demetriou A, Ioannou P, Tanteles GA, Costi C, Fanis P, Macek M, Neocleous V, Phylactou LA. Orphanet J Rare Dis. 2021 Oct 2;16(1):409. doi: 10.1186/s13023-021-02049-z.

  19. Chrystalla Mytidou, Andrie Koutsoulidou, Anna Katsioloudi, Marianna Prokopi, Konstantinos Kapnisis, Kyriaki Michailidou, Andreas Anayiotos, Leonidas A. Phylactou. Muscle-derived exosomes encapsulate myomiRs and are involved in local skeletal muscle tissue communication. FASEB J, 2021 Feb;35(2):e21279. Doi: 10.1096/fj.201902468RR.
  20. Fanis P, Neocleous V, Kosta K, Karipiadou A, Hartmann MF, Wudy SA, Karantaglis N, Papadimitriou DT, Skordis N, Tsikopoulos G, Phylactou LA, Roilides E, Papagianni M. Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene. J Pediatr Endocrinol Metab. 2020 Nov 11;/j/jpem.ahead-of-print/jpem-2020-0245/jpem-2020-0245.xml. doi:10.1515/ jpem-2020-0245.
  21. Neocleous V, Fanis P, Toumba M, Tanteles GA, Schiza M, Cinarli F, Nicolaides NC, Oulas A, Spyrou GM, Mantzoros CS, Vlachakis D, Skordis N, Phylactou LA. GnRH deficient patients with congenital hypogonadotropic hypogonadism: Novel genetic findings in ANOS1, RNF216, WDR11, FGFR1, CHD7 and POLR3A genes in a case series and Review of the literature. Front Endocrinol (Lausanne). 2020 Aug 28;11.626. doi: 10.3389/fendo.2020.00626. eCollection 2020.
  22. Koutsoulidou A, Phylactou LA. Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring. Mol Ther Methods Clin Dev. 2020 May 22;18:230-239, doi 10.1016/j.omtm.2020.05.017.eCollection 2020 Sep 11.
  23. Christou M, Wengel J, Sokratous K, Kyriacou K, Nikolaou G, Phylactou L.A. and Mastroyiannopoulos N.P. Systemic evaluation of chimeric LNA/2᾿OMe steric blockers for DM1 therapy.  Nucleic Acid Ther. 2019 Dec 23. doi: 10.1089/nat.2019.0811. [Epub ahead of print].
  24. Neocleous V, Fanis P, Toumba M, Stylianou C, Picolos M, Andreou E, Kyriakou A, Iasonides M, Nicolaou S, Kyriakides TC, Tanteles GA, Skordis N, Phylactou LA. The spectrum of genetic defects in Congenital Adrenal Hyperplasia in the population of Cyprus: A retrospective analysis. Hormone and Metabolic Research. 2019 Sep;51(9):586-594. doi: 10.1055/a-0957-3297. Epub 2019 Sep 10. PMID: 31505704.
  25. Pavlos Fanis, Nicos Skordis, Meropi Toumba, Nikoletta Papaioannou, Anestis Makris, Andreas Kyriakou, Vassos Neocleous & Leonidas A. Phylactou. Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5’-UTR Region of the Imprinted MKRN3 Gene. Front. Endocrinol. 2019, 4 October, doi.org/10.3389/fendo.2019.00677.
  26. Neocleous V, Fanis P, Cinarli F, Kokotsis V, Oulas A, Toumba M, Spyrou GM, Phylactou LA, Skordis N.  46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the Desert Hedgehog (DHH) gene. Hormones. 2019 Jun 25 doi: 10.1007/s42000-019-001 16-6 [Epub ahead of print].
  27. Fanis P, Efstathiou E, Neocleous V, Phylactou LA, Hadjipanayis A. A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect. J Genet. 2019 Mar,98(1). pii.22.
  28. Neocleous V, Fanis P, Phylactou LA, Skordis N. Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia. Front Endocrinol (Lausanne). 2018 Dec 3;9:733. doi: 10.3389/fendo.2018.00733. eCollection 2018.
  29. Fanis P, Skordis N, Frangos S, Christopoulos G, Spanou-Aristidou E, Andreou E, Manoli P, Mavrommatis M, Nicolaou S, Kleanthous M, Cariolou MA, Christophidou-Anastasiadou V, Tanteles GA, Phylactou LA, Neocleous V.Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect. J Endocrinol Invest. 2018 Oct;41(10):1149-1157. doi: 10.1007/s40618-018-0841-0. 
  30. Philippou S, Mastroyioannopoulos NP, Makrides N, Lederer CW, Kleanthous M, Phylactou LA. Selection and identification of skeletal muscle-targeted RNA aptamers.  Molecular Therapy-Nucleid Acids. 2018 Mar2;10:199-214. Doi: 10.1016/j.omtn.2017.12.004. Epub 2017 Dec 9.
  31. Koutsoulidou A, Photiades M, Kyriakides TC, Georgiou K, Prokopi M, Kapnisis K, Lusakowska A, Nearchou M, Christou Y, Papadimas GK, Anayiotos A, Kyriakou K, Kararizou E, Zamba Papanicolaou E, Phylactou LA. Identification of Exosomal Muscle-Specific miRNAs in Serum of Myotonic Dystrophy Patients Relating to Muscular Disease Progress. Hum Mol Genet. 2017 Sep 1;26(17):3285-3302. Doi: 10.1093/hmg/ddx212 [Epub 2017 Jun 16].
  32. Demetris Koutalianos, Andrie Koutsoulidou, Nikolaos P. Mastroyiannopoulos, Denis Furling, and Leonidas A Phylactou. MyoD transcription factor induces myogenesis by inhibiting Twist-1 through miR-206. J Cell Sci. 2015 Aug 13. Pii: jcs.172288. [Epub ahead of print].
  33. Andrie Koutsoulidou, Tassos Kyriakides, Yiolanda Christou, Eleni Zamba Papanicolaou, Leonidas A. Phylactou. Elevated muscle-specific miRNAs in  serum of myotonic dystrophy patients relate to disease progress. PLoS ONE. 2015 Apr 27;10(4):e0125341.
  34. Antonis Antoniou, Nikolaos P. Mastroyiannopoulos, James B. Uney, Leonidas A. Phylactou. miR-186 inhibits muscle cell differentiation through myogenin regulation. J. Biol. Chem. 2014 Jan 2. [Epub ahead of print]
  35. Nikolaos P. Mastroyiannopoulos, Antonis Antoniou, Andrie Koutsoulidou, James Uney, Leonidas A. Phylactou. Twist reverses muscle cell differentiation through transcriptional down-regulation of myogenin. Biosci Rep. 2013 Dec 3;33(6). pii: e00083. doi: 10.1042/BSR20130068.
  36. Christos Shammas, Vassos Neocleous, Marie M Phelan, Lu-Yun Lian, Nicos Skordis and Leonidas A Phylactou. A report of 2 new cases of MODY2 and review of the literature: implications for new drug development for type 2 Diabetes. Metabolism. 2013 Jul 23. doi:pii: S0026-0495(13)00188-1. 10.1016/j.metabol.2013.06.007. [Epub ahead of print].
  37. Meropi Toumba, Vassos Neocleous, Christos Shammas, Violetta Anastasiadou, Jeremy Allgrove, Leonidas A Phylactou, Nicos Skordis. A family with Camurati-Engelman disease. The role of the missense p.R218C mutation in TGFB1 in bones and endocrine glands. J Pediatr Endocrinol Metab. 2013 May 17:1-7. doi: 10.1515/jpem-2013-0019. [Epub ahead of print].
  38. Alexia AP Phedonos, Christos Shammas, Nicos Skordis, Tassos Kyriakides, Vassos Neocleous and Leonidas A Phylactou. High carrier frequency of CAH in the Cypriot population. Clin Genet. 2013 Apr 22. doi: 10.1111/cge.12153. [Epub ahead of print]
  39. Neocleous V, Shammas C, Phedonos AAP, Karaoli E, Kyriakou A, Toumba M, Phylactou LA and Skordis N. Genetic defects in the CYP21A2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia. Georgian Med News. 2012 Sep;(210):40-47.
  40. Németh S, Riedl S, Kriegshäuser G, Baumgartner-Parzer S, Concolino P, Neocleous V, Phylactou LA, Borucka-Mankiewicz M, Onay H, Tukun A, Oberkanins C. Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone. Clin Chim Acta. 2012 Dec 24;414:211-4. doi: 10.1016/j.cca.2012.09.013. Epub 2012 Sep 14.
  41. Christos Shammas, Vassos Neocleous, Alexia AP Phedonos, Elisavet Efstathiou, Meropi Toumba, Leonidas A Phylactou and Nicos Skordis. Overview of genetic defects of Endocrinopathies in Cyprus: evidence of a founder effect. Genet Test Mol Biomarkers. 2012 Sep;16(9):1073-9. Epub 2012 Aug 2.
  42. Kyriaki S. Pafiti, Costas S. Patrickios, Theoni K. Georgiou, Edna N. Yamasaki, Nikolaos P. Mastroyiannopoulos, Leonidas A. Phylactou. Cationic star polymer siRNA transfectants interconnected with a piperazine-based cationic cross-linker. European Polymer Journal 48 (2012) 1422–1430.
  43. Y Shinar, L Obici, I Aksentijevich, B Bennetts, F Austrup, I Ceccherini, JM Costa, A De Leener, M Gattorno, G Goulielmos, U Kania, I Kone-paut, S Lezer, A Livneh, I Moix, R Nishikomori, S Ozen, LA Phylactou, LRisom, D Rowczenio, T Sarkisian, M van Gijn, M Witsch-Baumgartner, H El-Shanti, M Jakobsen, K Konstantopoulos, D Martorana, MG Pomponi, A Bybee, H Hoffman, R Rydlewski, M Morris, I Touitou. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis. 2012 Oct;71(10):1599-605. Epub 2012 Jun 1.
  44. Skordis N, Efstathiou E, Kyriakides TC, Savvidou A, Savva SC, Phylactou LA, Shammas C, Neocleous V. Epidemiology of Type 1 diabetes mellitus in Cyprus: rising incidence at the dawn of the 21st century. HORMONES. 2012 Jan;11(1):86-93.
  45. Neocleous V, Sismani C, Shammas C, Efstathiou E, Alexandrou A, Ioannides M, Argyrou M, Patsalis PC, Phylactou LA, Skordis N. Duplication of exons 3-10 of the HSD17B3 gene: A novel type of genetic defect underlying 17β-HSD-3 deficiency. Gene. 2012 May 15;499(2):250-5. Epub 2012 Mar 13
  46. Scott Helen, Howarth Joanna, Lee Youn-Bok, Wong Liang-Fong, Bantounas Ioannis, Phylactou Leonidas, Verkade Paul, Uney James.  Mir-3120 is a novel mirror microRNA that regulates Hsc70 and clathrin vesicle uncoating. J Biol Chem. 2012 Apr 27;287(18):14726-33. Epub 2012 Mar 5.
  47. Neocleous V, Skordis N, Shammas C, Efstathiou E, Mastroyiannopoulos NP, Phylactou LA. Identification and characterization of a novel X-linked AVPR2 mutation causing partial Nephrogenic Diabetes Insipidus: a case report and review of the literature; Metabolism. 2012 Jul;61(7):922-30. Epub 2012 Mar 3.
  48. Mastroyiannopoulos NP, Nicolaou P, Anayasa M, Uney JB, Phylactou LA. Down-regulation of Myogenin can reverse terminal muscle cell differentiation. PLoS ONE 2012:7(1): e29896. doi:10.1371/journal.pone.0029896
  49. Koutsoulidou A, Mastroyiannopoulos NP, Furling D, Uney JB, Phylactou LA. Endogenous TWIST expression and differentiation are opposite during human muscle development. Muscle & Nerve. 2011 Dec;44(6):984-6.
  50. Skordis N, Shammas C, Efstathiou E, Sertedaki A, Neocleous V, Phylactou L. Late diagnosis of 5 alpha reductase deficiency in an adolescent girl presented as Primary Amenorrhea carrying the detrimental IVS12A>G mutation. HORMONES 2011, 10(3):231-236.
  51.  Neocleous V, Skordis N, Portides G, Efstathiou E, Costi C, Ioannou N, Pantzaris M, Anastasiadou V, Deltas C, Phylactou LA. RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with Multiple Endocrine Neoplasia 2. J Endocrinol Invest. 2011 Nov;34(10):764-9. Epub 2011 Mar 21.
  52. Vassos Neocleous, Constantina Costi and Leonidas A. Phylactou. The genetic basis of inherited hearing loss. In Hearing Loss: Classification, causes and treatment. Novapublishers. Chapter 11; pp. 271-290. 2011.
  53. Koutsoulidou A, Mastroyiannopoulos NP, Furling D, Uney JB, Phylactou LA. Expression of miR-1, miR-133a, miR-133b and miR-206 increases during development of human skeletal muscle. BMC Dev Biol. 2011 Jun 7;11:34. PubMed PMID: 21645416; PubMed Central PMCID: PMC3132729.
  54. Neocleous V, Skordis N, Portides G, Efstathiou E, Costi C, Ioannou N, Pantzaris M, Anastasiadou V, Deltas C, Phylactou LA. RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with Multiple Endocrine Neoplasia 2. J Endocrinol Invest. 2011 Mar 21. [Epub ahead of print] PubMed PMID: 21422799.
  55. Skordis N, Shammas C, Efstathiou E, Kaffe K, Neocleous V, Phylactou LA. Endocrine profile and phenotype-genotype correlation in unrelated patients with non-classical congenital adrenal hyperplasia. Clin Biochem. 2011 Aug;44(12):959-63. Epub 2011 May 24. PubMed PMID: 21635882.
  56. Koutsoulidou A, Mastroyiannopoulos NP, Furling D, Uney JB, Phylactou LA. Developmental profile of miR-1, miR-133a, miR-133b and miR-206 in human muscle. BMC Dev Biol. 2011 Jun 7;11:34.
  57. Pafiti KS, Mastroyiannopoulos NP, Phylactou LA, Patrickios CS. Hydrophilic cationic star homopolymers based on a novel diethanol-N-methylamine dimethacrylate cross-linker for siRNA transfection: synthesis, characterization, and evaluation. Biomacromolecules. 2011 May 9;12(5):1468-79. Epub 2011 Mar 17. PubMed PMID: 21413702.
  58. Pafiti K, Mastroyiannopoulos NP, Phylactou LA, Patrickios CS. Multi-Arm Cationic Star Homopolymers for siRNA Transfection: Synthesis, Characterization and Evaluation. Biomed Eng Res 2011; 1 29-38.
  59. Skordis N, Kyriakou A, Tardy V, Ioannou YS, Varvaresou A, Dracopoulou-Vabouli M, Patsalis PC, Shammas C, Neocleous V, Phylactou LA. Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia. Horm Res Paediatr. 2011;75(3):180-6. Epub 2010 Sep 14. PubMed PMID: 20838032.
  60. Mastroyiannopoulos NP, Uney JB, Phylactou LA. The application of ribozymes and DNAzymes in muscle and brain. Molecules. 2010 Aug 9;15(8):5460-72. Review. PubMed PMID: 20714308.
  61. Mastroyiannopoulos NP, Shammas C, Phylactou LA. Tackling the pathogenesis of  RNA nuclear retention in myotonic dystrophy. Biol Cell. 2010 Jul 23;102(9):515-23. Review. PubMed PMID: 20690904.
  62. Skordis N, Neocleous V, Kyriakou A, Efstathiou E, Sertedaki A, Philibert P, Phylactou LA, Lumbroso S, Sultan C. The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency. J Endocrinol Invest. 2010 Dec;33(11):810-4. Epub 2010 May 28. PubMed PMID: 20511729.
  63. Yanakakis N, Dieterlen F, Neocleous V, Phylactou LA, Lucotte G. Carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek-Turkish area: predominance of the mutation in Crete. International Journal of Modern Anthropology; 2009, 2 : 11 – 23.
  64. Neocleous V, Ioannou YS, Bartsota M, Costi C, Skordis N, Phylactou LA. Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia. Clin Biochem. 2009 Sep;42(13-14):1363-7. Epub 2009 Jun 6. PubMed PMID: 19501079.
  65. Lee YB, Bantounas I, Lee DY, Phylactou L, Caldwell MA, Uney JB. Twist-1 regulates the miR-199a/214 cluster during development. Nucleic Acids Res. 2009 Jan;37(1):123-8. Epub 2008 Nov 23. PubMed PMID: 19029138; PubMed Central PMCID: PMC2615617.
  66. Mastroyiannopoulos NP, Chrysanthou E, Kyriakides TC, Uney JB, Mahadevan MS, Phylactou LA. The effect of myotonic dystrophy transcript levels and location on muscle differentiation. Biochem Biophys Res Commun. 2008 Dec 12;377(2):526-31. Epub 2008 Oct 16. PubMed PMID: 18930030.
  67. Hjiantoniou E, Anayasa M, Nicolaou P, Bantounas I, Saito M, Iseki S, Uney JB, Phylactou LA. Twist induces reversal of myotube formation. Differentiation. 2008  Feb;76(2):182-92. Epub 2007 Jul 27. PubMed PMID: 17662069.
  68. Neocleous V, Aspris A, Shahpenterian V, Nicolaou V, Panagi C, Ioannou I, Kyamides Y, Anastasiadou V, Phylactou LA. High frequency of 35delG GJB2 mutation  and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss. Genet Test. 2006 Winter;10(4):285-9. PubMed PMID: 17253936.
  69. Georgiou TK, Phylactou LA, Patrickios CS. Synthesis, characterization, and evaluation as transfection reagents of ampholytic star copolymers: effect of star architecture. Biomacromolecules. 2006 Dec;7(12):3505-12. PubMed PMID: 17154481.
  70. Neocleous V, Portides G, Anastasiadou V, Phylactou LA. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Greek Cypriot population. Int J Pediatr Otorhinolaryngol. 2006 Aug;70(8):1473-7. Epub 2006 May 19. PubMed PMID: 16713631.
  71. Georgiou TK, Vamvakaki M, Phylactou LA, Patrickios CS. Synthesis, characterization, and evaluation as transfection reagents of double-hydrophilic star copolymers: effect of star architecture. Biomacromolecules. 2005 Nov-Dec;6(6):2990-7. PubMed PMID: 16283718.
  72. Mastroyiannopoulos NP, Feldman ML, Uney JB, Mahadevan MS, Phylactou LA. Woodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3' untranslated region transcripts. EMBO Rep. 2005 May;6(5):458-63. PubMed PMID: 15832171; PubMed Central PMCID: PMC1299300.
  73. Yoshida T, Phylactou LA, Uney JB, Ishikawa I, Eto K, Iseki S. Twist is required for establishment of the mouse coronal suture. J Anat. 2005 May;206(5):437-44. PubMed PMID: 15857364; PubMed Central PMCID: PMC1571510.
  74. Bantounas I, Glover CP, Kelly S, Iseki S, Phylactou LA, Uney JB. Assessing adenoviral hammerhead ribozyme and small hairpin RNA cassettes in neurons: inhibition of endogenous caspase-3 activity and protection from apoptotic cell death. J Neurosci Res. 2005 Mar 1;79(5):661-9. PubMed PMID: 15657876.
  75. Bantounas I, Phylactou LA, Uney JB. RNA interference and the use of small interfering RNA to study gene function in mammalian systems. J Mol Endocrinol. 2004 Dec;33(3):545-57. Review. PubMed PMID: 15591019.
  76. Georgiou TK, Vamvakaki M, Patrickios CS, Yamasaki EN, Phylactou LA. Nanoscopic cationic methacrylate star homopolymers: synthesis by group transfer polymerization, characterization and evaluation as transfection reagents. Biomacromolecules. 2004 Nov-Dec;5(6):2221-9. PubMed PMID: 15530036.
  77. Kastanos E, Hjiantoniou E, Phylactou LA. Restoration of protein synthesis in pancreatic cancer cells by trans-splicing ribozymes. Biochem Biophys Res Commun.  2004 Sep 24;322(3):930-4. PubMed PMID: 15336553.
  78. Hjiantoniou E, Iseki S, Uney JB, Phylactou LA. DNazyme-mediated cleavage of Twist transcripts and increase in cellular apoptosis. Biochem Biophys Res Commun. 2003 Jan 3;300(1):178-81. PubMed PMID: 12480539
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