Research Topics
Genomes and GenesSpecies | George P PatrinosSummaryAffiliation: Erasmus MC Country: The Netherlands Publications
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Detail Information
Publications
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene serverRoss C Hardison
Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, USA
Hum Mutat 19:225-33. 2002..quot; This new database should be useful for clinical diagnosis as well as in fundamental studies of hemoglobin biochemistry, globin gene regulation, and human sequence variation at these loci...
The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoterChristos Chassanidis
Department of Biology, School of Medicine, University of Thessaly, Larissa, Greece
Ann Hematol 88:549-55. 2009..109 is critical for NF-E3 binding. These data suggest that the HBG2:g-109G>T mutation has a functional role in increasing HBG2 transcription and is responsible for the HPFH phenotype observed in our index cases...- Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variantsKamran Moradkhani
Biochimie Génétique, AP HP, Hopital Henri Mondor, Creteil, France
Ann Hematol 88:535-43. 2009..These alpha-globin chain variants have most likely occurred via recurrent mutations, gene conversion events, or both. Based on these data, we propose a nomenclature for hemoglobin variants that fall into this category... - DNA, diseases and databases: disastrously deficientGeorge P Patrinos
Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, PO Box 1738, 3000 DR Rotterdam, The Netherlands
Trends Genet 21:333-8. 2005..g. technological hurdles, publication requirements, the short-sighted and popularist research system). A lack of targeted funding is arguably the most fundamental problem, but one that can be solved... 
Pharmacogenomics and therapeutics of hemoglobinopathiesGeorge P Patrinos
Erasmus Medical Center, Faculty of Medicine and Health Sciences Medical Genetics Cluster Department of Cell Biology and Genetics, Rotterdam, The Netherlands
Hemoglobin 32:229-36. 2008....- Molecular diagnosis of inherited disorders: lessons from hemoglobinopathiesGeorge P Patrinos
Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
Hum Mutat 26:399-412. 2005..This article also attempts to shed light on issues closely related to thalassemia diagnostics, such as prenatal and preimplantation genetic diagnoses and genetic counseling, for better-quality disease management... - Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic populationGeorge P Patrinos
Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
Hum Mutat 25:327-33. 2005..Creation of the Hellenic National Mutation database will significantly facilitate molecular diagnosis of inherited disorders in Greece and will motivate further investigation of yet unknown genetic diseases in the Hellenic population... - National and ethnic mutation databases: recording populations' genographyGeorge P Patrinos
Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
Hum Mutat 27:879-87. 2006..The ultimate goal is that interested parties and granting bodies will assist in achieving the vision of a comprehensive resource that collects and displays all population-specific genetic information discovered... - Recording human globin gene variationGeorge P Patrinos
MGC-Department of Cell Biology and Genetics, Faculty of Medicine and Health Sciences, Erasmus MC, Rotterdam, The Netherlands
Hemoglobin 28:v-vii. 2004 - Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studiesGeorge P Patrinos
MGC Department of Cell Biology and Genetics, Erasmus MC, Faculty of Medicine and Health Sciences, PO Box 1738, 3000 DR, Rotterdam, The Netherlands
Nucleic Acids Res 32:D537-41. 2004..It also expands the capacity to view and analyze the data, using tools within GALA and the University of California at Santa Cruz (UCSC) Genome Browser... - Copy number variation and genomic alterations in health and diseaseGeorge P Patrinos
Faculty of Medicine and Health Sciences, Medical Genetics Center Department of Cell Biology and Genetics, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands
Genome Med 1:21. 2009..A report of the 1st GOLDEN HELIX Symposium 'Copy number variation and genomic alterations in health and disease', Athens, Greece, 28-29 November 2008... - The 5' regulatory region of the human fetal globin genes is a gene conversion hotspotAngelos Kalamaras
Department of Biology, School of Medicine, University of Thessaly, Larissa, Greece
Hemoglobin 32:572-81. 2008.... - Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1Adamantia Papachatzopoulou
Department of General Biology, School of Medicine, University of Patras, Patras, Greece
Am J Hematol 82:1005-9. 2007..We conclude that the CH haplotypes are useful genetic determinants for beta-thalassemia major and intermedia patients, while the 3'HS1 (+179 C>T) mutation may have functional consequences in gamma-globin genes expression... - Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the countryMaria Samara
Department of Biology, School of Medicine, University of Thessaly, Larissa, Greece
Am J Hematol 82:634-6. 2007..Our data indicate that determination of mutation frequencies in different regions is vital for accurate provision of genetic services and counseling and for precise estimation of genetic diversity... - Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusionMaria Satra
Department of Biology and Genetics, University of Thessalia, Larissa, Greece
Pharmacogenomics 12:195-203. 2011..20210G>A; rs1799963), plasminogen activator inhibitor 1 (PAI-1) -675(4G/5G; SERPINE1:g.4329_4330insG; rs34857375), β-fibrinogen -455G>A (FGB:c.4577G>A; rs1800790) and Factor XIII (F13A1:c.103G>T; rs5985) on myocardial perfusion... - Impact of ACE and ApoE polymorphisms on myocardial perfusion: correlation with myocardial single photon emission computed tomographic imagingPanagiotis Georgoulias
Department of Nuclear Medicine, School of Medicine, University of Thessaly, University Hospital of Larissa, Larissa, Greece
J Hum Genet 54:595-602. 2009..219T alleles... - A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis softwareSophia Zaimidou
Medical Genetics Centre Department of Cell Biology and Genetics, Faculty of Medicine and Health Sciences, Erasmus University Medical Center, Rotterdam, The Netherlands
Hum Mutat 30:308-13. 2009.... - ETHNOS : A versatile electronic tool for the development and curation of national genetic databasesSjozef van Baal
Erasmus MC, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
Hum Genomics 4:361-8. 2010.... 
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwideSjozef van Baal
Erasmus MC, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
Nucleic Acids Res 35:D690-5. 2007....- Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson diseaseGerassimos E Voutsinas
Department of General Biology, School of Medicine, University of Patras, Patras, GR 26500, Greece
Hum Mutat 31:685-91. 2010..Ala53Thr allele and upregulation of the wild-type-allele. This phenomenon is demonstrated for a first time in the SNCA gene, and may have important implications for PD pathogenesis... - High frequency of concomitant nm23-H1 and E-cadherin transcriptional inactivation in primary non-inheriting colorectal carcinomasGeorge A Garinis
Nursing Military Academy, Laboratory of Research, Athens, Greece
J Mol Med (Berl) 81:256-63. 2003..Nm23-H1 may therefore play an important role in suppressing the early steps of metastasis in sporadic cases of colorectal carcinomas... - Mutation screening in the human epsilon-globin gene using single-strand conformation polymorphism analysisAdamantia Papachatzopoulou
University of Patras, School of Medicine, Department of General Biology, Patras, Greece
Am J Hematol 81:136-8. 2006.... - A Dual Reporter Mouse Model of the Human β-Globin Locus: Applications and LimitationsPetros Papadopoulos
Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands
PLoS ONE 7:e51272. 2012.... - Locus-specific database domain and data content analysis: evolution and content maturation toward clinical useChristina Mitropoulou
Erasmus MC, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
Hum Mutat 31:1109-16. 2010..We propose a structure, based on LSDBs and closely related repositories (namely, clinical genetics databases), which would contribute to a federated genetic variation browser and also allow the maintenance of variation data... - Isolation and characterization of hematopoietic transcription factor complexes by in vivo biotinylation tagging and mass spectrometryFrank Grosveld
Department of Cell Biology, Erasmus University Medical Center, 50 Dr Molewaterplein, 3015 GE Rotterdam, The Netherlands
Ann N Y Acad Sci 1054:55-67. 2005..Last, we are in the process of applying the same technology to characterize the factors that are bound to the suppressed gamma-globin promoter in vivo... - Genetic recombination as a major cause of mutagenesis in the human globin gene clustersJoseph Borg
Erasmus MC, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, The Netherlands
Clin Biochem 42:1839-50. 2009..CONCLUSION: Here, we summarize our current knowledge and review existing experimental evidence outlining the role of genetic recombination in the mutagenic process in the human globin gene families... - Multiple interactions between regulatory regions are required to stabilize an active chromatin hubGeorge P Patrinos
Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, 3000 DR, The Netherlands
Genes Dev 18:1495-509. 2004..We conclude that multiple interactions between the LCR and the beta-globin gene are required to maintain the appropriate spatial configuration in vivo... - Hypermethylation-associated transcriptional silencing of E-cadherin in primary sporadic colorectal carcinomasGeorge A Garinis
Nursing Military Academy, Laboratory of Research, Athens, Greece
J Pathol 198:442-9. 2002.... - The cypriot and Iranian National Mutation Frequency DatabasesMarina Kleanthous
The Cyprus Institute of Neurology and Genetics, Department of Molecular Genetics, Social Welfare and Rehabilitation Sciences University, Tehran, Iran
Hum Mutat 27:598-9. 2006.... - A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotesManoussos N Papadakis
Prenatal Diagnosis Unit, Center for Thalassemia, Laikon General Hospital, 16 Sevastoupoleos Street, Ampelokipi, 11526 Athens, Greece
J Mol Med (Berl) 80:243-7. 2002.... - A versatile denaturing HPLC approach for human beta-globin gene mutation screeningStavros N Bournazos
Locus Medicus, Athens, Greece
Am J Hematol 82:168-70. 2007..Compared to classical mutation screening approaches, our DHPLC approach provides the means for rapid, highly sensitive, cost-effective, and semi-automated simultaneous mutational scanning of a large number of samples... - Compound heterozygosity of non-deletional hereditary persistence of fetal hemoglobin and deltabeta-thalassemiaAngelos Kalamaras
Am J Hematol 83:760. 2008 - HbVar database of human hemoglobin variants and thalassemia mutations: 2007 updateBelinda Giardine
The Pennsylvania State University, Center for Comparative Genomics and Bioinformatics, University Park, Pennsylvania, USA
Hum Mutat 28:206. 2007.... - A T-to-G transversion at nucleotide -567 upstream of HBG2 in a GATA-1 binding motif is associated with elevated hemoglobin FZhiyi Chen
Center of Excellence in Sickle Cell Disease, Division of Hematology Oncology, Department of Medicine, Boston University School of Medicine, Boston, Massachusetts 02118, USA
Mol Cell Biol 28:4386-93. 2008..The T-to-G mutation in this motif disrupts GATA-1 binding and the associated repressor complex, abolishing its silencing effect and resulting in the up-regulation of gamma-globin gene expression in adults... - Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the betaS/Benin haplotypeGeorge P Patrinos
Laikon General Hospital, Center for Thalassemia, Unit of Prenatal Diagnosis, Athens, Greece
Am J Hematol 80:79-80. 2005..Being absent from North American beta(S)/Benin chromosomes, which were studied previously, this variation is indicative for the molecular heterogeneity of the beta(S)/Benin haplotype... - PhenCode: connecting ENCODE data with mutations and phenotypeBelinda Giardine
Center for Comparative Genomics and Bioinformatics, Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, Pennsylvania 16802, USA
Hum Mutat 28:554-62. 2007..We present several examples illustrating the power of these connections for exploring phenotypes associated with functional elements, and for identifying genomic data that could help to explain clinical phenotypes... - Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic DatabaseJoel Zlotogora
Department of Community Genetics, Public Health Services, Ministry of Health, Ramat Gan, Israel
Hum Mutat 28:944-9. 2007..The Israeli NEMDB is a useful user-friendly and extendable online resource for genetic services in Israel, while the modified version of the ETHNOS software can be particularly useful for similar projects in other populations... - An overview of current microarray-based human globin gene mutation detection methodsLaura Cremonesi
Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy
Hemoglobin 31:289-311. 2007.... - Gene conversion: mechanisms, evolution and human diseaseJian Min Chen
INSERM, U613, 29220 Brest, France
Nat Rev Genet 8:762-75. 2007.... - Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD genePanayiotis G Menounos
Nursing Military Academy, Laboratory of Research, Athens, Greece
J Clin Lab Anal 17:90-2. 2003..We identified no sequence variations in the G6PD core promoter or in the 5' UTR of these G6PD-deficient individuals, which indicates that G6PD deficiency is not associated with promoter mutations in the G6PD locus... - Molecular characterization and diagnosis of Hb Crete [beta129(H7)Ala-->Pro]Georgia Christopoulou
Locus Medicus Laboratory, Athens, Greece
Hemoglobin 28:339-42. 2004..Moreover, the proposed NlaVI restriction enzyme-based detection of Hb Crete at the DNA level is a fast and accurate approach, useful for molecular diagnostics...