Molecular Genetics Thalassaemia Department

Publications

 

  • Patsali P, Papasavva P, Stephanou C, Christou S, Sitarou M, Antoniou MN, Lederer CW, Kleanthous M. Short-hairpin RNA against aberrant HBB[IVSI-110(G>A)] mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells. Haematologica. 2018 Apr 26. pii: haematol.2018.189357. doi: 10.3324/haematol.2018.189357. [Epub ahead of print] PubMed PMID: 29700171. [IF: 7.70, 2016]
  • Philippou S, Mastroyiannopoulos NP, Makrides N, Lederer CW, Kleanthous M, Phylactou LA. Selection and Identification of Skeletal-Muscle-Targeted RNA Aptamers. Mol Ther Nucleic Acids. 2018 Mar 2;10:199-214. doi: 10.1016/j.omtn.2017.12.004. Epub 2017 Dec 9. PubMed PMID: 29499933; PubMed Central PMCID: PMC5862129. [IF: 6.39, 2016]
  • Loucari CC, Patsali P, van Dijk TB, Stephanou C, Papasavva P, Zanti M, Kurita R, Nakamura Y, Christou S, Sitarou M, Philipsen S, Lederer CW, Kleanthous M. Rapid and Sensitive Assessment of Globin Chains for Gene and Cell Therapy of Hemoglobinopathies. Hum Gene Ther Methods. 2018 Feb;29(1):60-74. doi: 10.1089/hgtb.2017.190. PubMed PMID: 29325430; PubMed Central PMCID: PMC5806072. [IF: 1.64, 2016]
  • Stephanou C, Papasavva P, Zachariou M, Patsali P, Epitropou M, Ladas P, Al-Abdulla R, Christou S, Antoniou MN, Lederer CW, Kleanthous M. Suitability of small diagnostic peripheral-blood samples for cell-therapy studies. Cytotherapy. 2017 Feb;19(2):311-326. doi: 10.1016/j.jcyt.2016.11.007. PubMed PMID: 28088294. [IF: 3.20, 2016]
  • Lederer CW, Pavlou E, Tanteles GA, Evangelidou P, Sismani C, Kolnagou A, Sitarou M, Christou S, Hadjigavriel M, Kleanthous M. Hb A(2) Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent. Hematology. 2017 Jun;22(5):304-309. doi: 10.1080/10245332.2016.1265043. Epub 2016 Dec 22. PubMed PMID: 28007020. [IF: 1.24, 2016]
  • Papasavva T, Martin P, Legler TJ, Liasides M, Anastasiou G, Christofides A, Christodoulou T, Demetriou S, Kerimis P, Kontos C, Leontiades G, Papapetrou D, Patroclos T, Phylaktou M, Zottis N, Karitzie E, Pavlou E, Kountouris P, Veldhuisen B, van der Schoot E, Kleanthous M. Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus. BMC Res Notes. 2016 Apr 1;9(1):198. [IF: 0.67, 2016]
  • Karponi G, Psatha N, Lederer CW, Adair JE, Zervou F, Zogas N, Kleanthous M, Tsatalas C, Anagnostopoulos A, Sadelain M, Rivière I, Stamatoyannopoulos G, Yannaki E. Plerixafor+G-CSF-mobilized CD34+ cells represent an optimal graft source for thalassemia gene therapy. Blood. 2015 Jul 30;126(5):616-9. doi: 10.1182/blood-2015-03-629618. Epub 2015 Jun 18. [IF: 13.16, 2016]
  • Stephanou C, Papasavva P, Zachariou M, Patsali P, Epitropou M, Ladas P, Al-Abdulla R, Christou S, Antoniou Nm, Lederer Cw & Kleanthous M. Suitability of small diagnostic peripheral-blood samples for celltherapy studies. Cytotherapy, 2017: 19:311-326
  • Clark B, Shooter C, Smith F, Brawand D, Steedman L, Oakley M, Rushton P, Rooks H, Wang X, Drousiotou A, Kyrri A, Hadjigavriel M, Will A, Fisher C, Higgs DR, Phylipsen M, Harteveld C, Kleanthous M, Thein SL. Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis. Br J Haematol. 2016 July 29. doi: 10.1111/bjh.14294. [IF: 4.711, 2014]
  • Christodoulou I, Patsali P, Stephanou C, Antoniou M, Kleanthous M, Lederer CW. Measurement of lentiviral vector titre and copy number by cross-apecies duplex quantitative PCR. Gene Therapy, vol 23, 23 July 2016:113-118. DOI:10.1038/gt.2015.60 [IF: 3.242, 2016] 
  • Theodorou A, Phylactides M, Forti L, Cramarossa MR, Spyrou P, Gambari R. Thein SL, Kleanthous M. The Investigation of resveratrol and analogs as potential inducers of fetal haemoglobin. Blood Cells, Molecules and Diseases. Vol 58, May 2016:6-12. [IF: 1.52 2015]
  • Kountouris P, Kousiappa I, Papasavva T, Christopoulos G, Pavlou E, Petrou M, Feleki X, Karitzie E, Phylactides M, Fanis P, Lederer CW, Kyrri R. A, Kalogerou E, Makariou Ch, Ioannou Ch, Kythreotis L, Hadjilambi G, Andreou N, Pangalou E, Savvidou I, Angastiniotis M, Hadjigavriel M, Sitarou M, Kolnagou A, Kleanthous M & Christou S. The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study. Scientific Reports Sci Rep. 2016 May 20;6:26371. doi: 10.1038/srep26371. [ IF: 5.228, 2015
  • Papasavva T, Martin P, Legler TJ, Liasides M, Anastasiou G, Christofides A, Christodoulou T, Demetriou S, Kerimis P, Kontos C, Leontiades G, Papapetrou D, Patroclos T, Phylaktou M, Zottis N, Karitzie E, Pavlou E, Kountouris P, Veldhuisen B, van der Schoot E, Kleanthous M. Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus. BMC Res Notes. 2016 Apr 1;9(1):198. [No IF]
  • Karponi G, Psatha N, Lederer CW, Adair JE, Zervou F, Zogas N, Kleanthous M, Tsatalas C, Anagnostopoulos A, Sadelain M, Rivière I, Stamatoyannopoulos G, Yannaki E. Plerixafor+G-CSF-mobilized CD34+ cells represent an optimal graft source for thalassemia gene therapy. Blood. 2015 Jul 30;126(5):616-9. doi: 10.1182/blood-2015-03-629618. Epub 2015 Jun 18. [IF: 9.775, 2014]
  • Kountouris P, Lederer CW, Fanis P, Feleki X, Old J, Kleanthous M. IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology. PLoS One. July 24;9(7), 2014. [IF: 3.534, 2014]
  • Fanis P, Kousiappa I, Phylactides M, Kleanthous M. Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach. BMC Genomics. Feb 6;15(1):108, 2014. [IF: 4.041, 2014]
  • Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia. Papasavva T, van Ijcken WF, Kockx CE, van den Hout MC, Kountouris P, Kythreotis L, Kalogirou E, Grosveld FG, Kleanthous M. Eur J Hum Genet. 2013;10: 1-8.
  • A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis of β-Thalassaemia Annals of Human Genetics, Thessalia E. Papasavva, Carsten W. Lederer, Jan Traeger-Synodinos, Ariadne Mavrou, Emmanuel Kanavakis, Christiana Ioannou, Christiana Makariou, Marina Kleanthous. , Volume 77, Issue 2, pages 115–124, March 2013
  • KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients.Borg J, Phylactides M, Bartsakoulia M, Tafrali C, Lederer C, Felice AE, Papachatzopoulou A, Kourakli A, Stavrou EF, Christou S, Hou J, Karkabouna S, Lappa-Manakou C, Ozgur Z, van Ijcken W, von Lindern M, Grosveld FG, Georgitsi M, Kleanthous M, Philipsen S, Patrinos GP. . Pharmacogenomics. 2012 Oct;13(13):1487-500.
  • Destouni A, Christopoulos G, Vrettou C, Kakourou G, Kleanthous M, Traeger-Synodinos J, Kanavakis E. Microsatellite Markers Within the α-Globin Gene Cluster for Robust Preimplantation Genetic Diagnosis of Severe α-Thalassemia Syndromes in Mediterranean Populations. Hemoglobin. 2012 Mar 27.
  • Compounds of the anthracycline family of antibiotics elevate human gamma-globin expression both in erythroid cultures and in a transgenic mouse model.Spyrou P, Phylactides M, Lederer CW, Kithreotis L, Kirri A, Christou S, Kkolou E, Kanavakis E, Anagnou NP, Stamatoyannopoulos G, Kleanthous M. Blood Cells Mol Dis. 2010 Mar-Apr;44(2):100-6. Epub 2009 Nov 14.PMID: 19914848 
  • Risk/benefit assessment, advantages over other drugs and targeting methods in the use of deferiprone as a pharmaceutical antioxidant in iron loading and non iron loading conditions.Kontoghiorghes GJ, Efstathiou A, Kleanthous M, Michaelides Y, Kolnagou A.Hemoglobin. 2009;33(5):386-97. 
  • An electronic infrastructure for research and treatment of the thalassemias and other hemoglobinopathies: the Euro-mediterranean ITHANET project. Lederer CW, Basak AN, Aydinok Y, Christou S, El-Beshlawy A, Eleftheriou A, Fattoum S, Felice AE, Fibach E, Galanello R, Gambari R, Gavrila L, Giordano PC, Grosveld F, Hassapopoulou H, Hladka E, Kanavakis E, Locatelli F, Old J, Patrinos GP, Romeo G, Taher A, Traeger-Synodinos J, Vassiliou P, Villegas A, Voskaridou E, Wajcman H, Zafeiropoulos A, Kleanthous M. Hemoglobin. 2009;33(3):163-76. PMID: 19657830
  • Prenatal diagnosis of hemoglobin disorders: present and future strategies. Harteveld CL, Kleanthous M, Traeger-Synodinos J.Clin Biochem. 2009 Dec;42(18):1767-79. Epub 2009 Jul 14. Review.PMID: 19607819 Hemoglobin variants in Cyprus.Kyrri AR, Felekis X, Kalogerou E, Wild BJ, Kythreotis L, Phylactides M, Kleanthous M.Hemoglobin. 2009;33(2):81-94.PMID: 19373583
  • Molecular basis of thalassemia intermedia in Iran. Akbari MT, Izadi P, Izadyar M, Kyriacou K, Kleanthous M.Hemoglobin. 2008;32(5):462-70.PMID: 18932071
  • Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms. Papasavva T, Kalikas I, Kyrri A, Kleanthous M.Ann N Y Acad Sci. 2008 Aug;1137:302-8.PMID: 18837964
  • Hb Agrinio [alpha29(B10)Le-->uPro (alpha2)] in combination with --(MED I). Results in a severe form of Hb H disease. Felekis X, Phylactides M, Drousiotou A, Christou S, Kyrri A, Kyriakou K, Kalogerou E, Christopoulos G, Kleanthous M.Hemoglobin. 2008;32(3):237-46.PMID: 18473239
  • Multicenter study of the molecular basis of thalassemia intermedia in different ethnic populations.Verma IC, Kleanthous M, Saxena R, Fucharoen S, Winichagoon P, Raizuddin S, Khan SN, Akbari MT, Izadyar M, Kotea N, Old JM, Ioannou PA, Khan B.Hemoglobin. 2007;31(4):439-52.PMID: 17994378
  • An overview of current microarray-based human globin gene mutation detection methods.Cremonesi L, Ferrari M, Giordano PC, Harteveld CL, Kleanthous M, Papasavva T, Patrinos GP, Traeger-Synodinos J.Hemoglobin. 2007;31(3):289-311. Review.PMID: 17654067
  • Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia.Papasavva T, Kalakoutis G, Kalikas I, Neokli E, Papacharalambous S, Kyrri A, Kleanthous M.Ann N Y Acad Sci. 2006 Sep;1075:148-53.PMID: 17108205
  • Delta-thalassemia in Cyprus.Pavlou E, Phylactides M, Kyrri A, Kalogerou E, Makariou C, Georgiou I, Kleanthous M.Hemoglobin. 2006;30(4):455-62.PMID: 16987800
  • The impact of genotype on endocrine complications in thalassaemia major. Skordis N, Michaelidou M, Savva SC, Ioannou Y, Rousounides A, Kleanthous M, Skordos G, Christou S. Eur J Haematol. 2006 Aug;77(2):150-6. Epub 2006 Jun 23. PMID: 16800840
  • The cypriot and Iranian National Mutation Frequency Databases. Kleanthous M, Patsalis PC, Drousiotou A, Motazacker M, Christodoulou K, Cariolou M, Baysal E, Khrizi K, Moghimi B, Pourfarzad F, van Baal S, Deltas C, Najmabadi H, Patrinos GP. Hum Mutat. 2006 Jun;27(6):598-9. PMID: 16705699
  • The impact of iron overload and genotype on gonadal function in women with thalassaemia major. Skordis N, Gourni M, Kanaris C, Toumba M, Kleanthous M, Karatzia N, Pavlides N, Angastiniotis M. Pediatr Endocrinol Rev. 2004 Dec;2 Suppl 2:292-5. PMID: 16462714
  • Novel polymorphisms at codons 146 and 151 in the prion protein gene of Cyprus goats, and their association with natural scrapie. Papasavva-Stylianou P, Kleanthous M, Toumazos P, Mavrikiou P, Loucaides P. Vet J. 2007 Mar;173(2):459-62. Epub 2005 Nov 28. PMID: 16314132
  • Identification of alpha-thalassemia mutations in Iranian individuals with abnormal hematological indices and normal Hb A2. Gohari LH, Petrou M, Felekis X, Christopoulos G, Kleanthous M. Hemoglobin. 2003 May;27(2):129-32. No abstract available. PMID: 12779276
  • Hb Limassol [beta8(A5)Lys-->Asn]: a new hemoglobin variant. Kyrri A, Felekis X, Kalogerou E, Christopoulos G, Makariou C, Loizidou D, Kleanthous M. Hemoglobin. 2001 Nov;25(4):421-4. No abstract available. PMID: 11791876
  • A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction. Old JM, Khan SN, Verma I, Fucharoen S, Kleanthous M, Ioannou P, Kotea N, Fisher C, Riazuddin S, Saxena R, Winichagoon P, Kyriacou K, Al-Quobaili F, Khan B. emoglobin. 2001 Nov;25(4):397-407. PMID: 11791873
  • Alpha-thalassaemia prenatal diagnosis by two PCR-based methods. Kleanthous M, Kyriacou K, Kyrri A, Kalogerou E, Vassiliades P, Drousiotou A, Kallikas I, Ioannou P, Angastiniotis M. Prenat Diagn. 2001 May;21(5):413-7. PMID: 11360286
  • Identification of a novel beta0-thalassemia mutation, codons 80/81 (-C), in an Iranian family. Feleki X, Najmabadi H, Karimi-Nejad R, Christopoulos G, Kleanthous M. Hemoglobin. 2000 Nov;24(4):319-21. No abstract available. PMID: 11186262
  • Hb Bart's levels in cord blood and alpha-thalassemia mutations in Cyprus. Kyriacou K, Kyrri A, Kalogirou E, Vasiliades P, Angastiniotis M, Ioannou PA, Kleanthous M. Hemoglobin. 2000 Aug;24(3):171-80. PMID: 10975437
  • Molecular characterization of beta-thalassemia in Syria. Kyriacou K, Al Quobaili F, Pavlou E, Christopoulos G, Ioannou P, Kleanthous M. Hemoglobin. 2000 Feb;24(1):1-13. PMID: 10722110
  • Comparative in vivo expression of beta(+)-thalassemia alleles. Marwan MM, Scerri CA, Zarroag SO, Cao A, Kyrri A, Kalogirou E, Kleanthous M, Ioannou P, Angastiniotis M, Felice AE. Hemoglobin. 1999 Aug;23(3):221-9. PMID: 10490134
  • alpha-Thalassaemia in the population of Cyprus. Baysal E, Kleanthous M, Bozkurt G, Kyrri A, Kalogirou E, Angastiniotis M, Ioannou P, Huisman TH.Br J Haematol. 1995 Mar;89(3):496-9. PMID: 7734346
  • Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis. Ioannou P, Christopoulos G, Panayides K, Kleanthous M, Middleton L. Neurology. 1992 Sep;42(9):1783-90. PMID: 1513470

 

 

 

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