G Novelli

Summary

Affiliation: University of Rome Tor Vergata
Country: Italy

Publications

  1. ncbi Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development
    Francesca Amati
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy
    Gene 391:91-102. 2007
  2. ncbi Effects of dutasteride on the expression of genes related to androgen metabolism and related pathway in human prostate cancer cell lines
    Michela Biancolella
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy
    Invest New Drugs 25:491-7. 2007
  3. ncbi The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation
    Alessandra di Masi
    Department of Biology, University Roma Tre, Rome, Italy
    Cell Cycle 7:2030-7. 2008
  4. ncbi Pharmacogenomics: role in medicines approval and clinical use
    G Novelli
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Rome, Italy
    Public Health Genomics 13:284-91. 2010
  5. ncbi Protein farnesylation and disease
    Giuseppe Novelli
    Department of Biopathology and Diagnostic Imaging, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
    J Inherit Metab Dis 35:917-26. 2012
  6. ncbi Androgen-regulated genes differentially modulated by the androgen receptor coactivator L-dopa decarboxylase in human prostate cancer cells
    Katia Margiotti
    Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada
    Mol Cancer 6:38. 2007
  7. ncbi Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients
    Stefano Gambardella
    Biopathology Department, Tor Vergata University, Rome, Italy
    J Transl Med 8:48. 2010
  8. ncbi Molecular dynamics simulation of human LOX-1 provides an explanation for the lack of OxLDL binding to the Trp150Ala mutant
    Mattia Falconi
    Department of Biology and Center of Biostatistics and Bioinformatics, University of Rome Tor Vergata, Via della Ricerca Scientifica, Rome, Italy, 00133
    BMC Struct Biol 7:73. 2007
  9. ncbi Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome
    Chiara Conte
    Fondazione Policlinico di Tor Vergata, Rome, Italy
    BMC Med Genet 12:125. 2011
  10. ncbi Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
    Maria Rosaria D'Apice
    Dipartimento di Biopatologia, Universita di Roma Tor Vergata, Roma, Italy
    BMC Med Genet 5:8. 2004

Detail Information

Publications139 found, 100 shown here

  1. ncbi Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development
    Francesca Amati
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy
    Gene 391:91-102. 2007
    ..5, 8.5 and 14.5 dpc. These data are likely to be helpful in studying developmental anomalies detected in del22q11 patients...
  2. ncbi Effects of dutasteride on the expression of genes related to androgen metabolism and related pathway in human prostate cancer cell lines
    Michela Biancolella
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy
    Invest New Drugs 25:491-7. 2007
    ..These data offer a selective genomic signature for dutasteride treatment in prostate epithelial cells and provide important insights in prostate cancer pathophysiology...
  3. ncbi The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation
    Alessandra di Masi
    Department of Biology, University Roma Tre, Rome, Italy
    Cell Cycle 7:2030-7. 2008
    ..Our results indicate that accumulation of the lamin A precursor protein determines a defect in DNA damage response after X-ray exposure, supporting a crucial role of lamin A in regulating DNA repair process and cell cycle control...
  4. ncbi Pharmacogenomics: role in medicines approval and clinical use
    G Novelli
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Rome, Italy
    Public Health Genomics 13:284-91. 2010
    ....
  5. ncbi Protein farnesylation and disease
    Giuseppe Novelli
    Department of Biopathology and Diagnostic Imaging, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
    J Inherit Metab Dis 35:917-26. 2012
    ....
  6. ncbi Androgen-regulated genes differentially modulated by the androgen receptor coactivator L-dopa decarboxylase in human prostate cancer cells
    Katia Margiotti
    Department of Pathology and Laboratory Medicine, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada
    Mol Cancer 6:38. 2007
    ..In the present study, we generated tetracycline-inducible LNCaP-DDC prostate cancer stable cells to identify DDC downstream target genes by oligonucleotide microarray analysis...
  7. ncbi Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients
    Stefano Gambardella
    Biopathology Department, Tor Vergata University, Rome, Italy
    J Transl Med 8:48. 2010
    ....
  8. ncbi Molecular dynamics simulation of human LOX-1 provides an explanation for the lack of OxLDL binding to the Trp150Ala mutant
    Mattia Falconi
    Department of Biology and Center of Biostatistics and Bioinformatics, University of Rome Tor Vergata, Via della Ricerca Scientifica, Rome, Italy, 00133
    BMC Struct Biol 7:73. 2007
    ..Molecular dynamics simulations of the wild-type LOX-1 and of the Trp150Ala mutant C-type lectin-like domains, have been carried out to gain insight into the severe inactivating effect...
  9. ncbi Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome
    Chiara Conte
    Fondazione Policlinico di Tor Vergata, Rome, Italy
    BMC Med Genet 12:125. 2011
    ..TCS results from mutations in the TCOF1 gene located on chromosome 5, which encodes a serine/alanine-rich nucleolar phospho-protein called Treacle. However, alterations in the TCOF1 gene have been implicated in only 81-93% of TCS cases...
  10. ncbi Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy
    Maria Rosaria D'Apice
    Dipartimento di Biopatologia, Universita di Roma Tor Vergata, Roma, Italy
    BMC Med Genet 5:8. 2004
    ..However, molecular diagnosis by direct mutation screening has proved difficult in certain ethnic groups due to allelic heterogeneity and variable frequency of causative mutations...
  11. ncbi Whole genome amplification and real-time PCR in forensic casework
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    BMC Genomics 10:159. 2009
    ..A 26-SNPs TaqMan panel specifically designed for low copy number (LCN) and/or severely degraded genomic DNA was typed on 100 genomic as well as amplified DNA samples...
  12. ncbi Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist
    Francesca Amati
    Department of Biopathology, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy
    BMC Genomics 11:497. 2010
    ..8%, p = 0.05), by oral administration of folic acid (FA). Now we have performed a microarray analysis in our mouse models to discover genes/transcripts potentially implicated in the pathogenesis of this CHD...
  13. ncbi In silico and in vitro comparative analysis to select, validate and test SNPs for human identification
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Italy
    BMC Genomics 8:457. 2007
    ..Consequently the selection of ideal genomic biomarkers for human identification is crucial in order to ensure the highest stability and reproducibility of results...
  14. ncbi New PRSS1 and common CFTR mutations in a child with acute recurrent pancreatitis, could be considered an "Hereditary" form of pancreatitis ?
    Vito D Corleto
    Dept of Digestive and Liver Disease, II School of Medicine, University La Sapienza, Rome, Italy
    BMC Gastroenterol 10:119. 2010
    ..acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child...
  15. ncbi [New insights in atherosclerosis research: LOX-1, leading actor of cardiovascular diseases]
    G Novelli
    Dipartimento di Biopatologia e Diagnostica per Immagini, Universita di Roma Tor Vergata, Italia
    Clin Ter 158:239-48. 2007
    ..Based on genetic and functional studies we propose LOX-1 as a novel biomarker and target in cardiovascular disease diagnosis and prevention...
  16. ncbi Genome medicine: gene therapy for the millennium
    Giuseppe Novelli
    Human Genetics Unit, Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Via Montpellier, 00133 Rome, Italy
    Pharmacogenomics 3:15-8. 2002
  17. ncbi Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
    Giuseppe Novelli
    Department of Biopathology and Diagnostic Imaging, Faculty for Medicine and Surgery, University of Rome Tor Vergata, Via Montpellier 1, 00133 Romea, Italy
    Am J Hum Genet 71:426-31. 2002
    ..Patient skin fibroblasts showed nuclei that presented abnormal lamin A/C distribution and a dysmorphic envelope, thus demonstrating the pathogenic effect of the R527H LMNA mutation...
  18. ncbi Pharmacogenetics of human androgens and prostate cancer--an update
    Giuseppe Novelli
    Universita di Roma Tor Vergata, Roma, Italy
    Pharmacogenomics 5:283-94. 2004
    ..Pharmacogenomic investigations of constitutional and tumor DNA may lead to significant advances in chemoprevention, presymptomatic diagnosis and improved treatment of prostate cancer...
  19. ncbi Role of genetics in prevention of coronary atherosclerosis
    Giuseppe Novelli
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    Curr Opin Cardiol 18:368-71. 2003
    ..Here, we review these advances with regard to genome scan results and candidate gene analysis...
  20. ncbi The strange case of the "lumper" lamin A/C gene and human premature ageing
    Giuseppe Novelli
    Dipartimento di Biopatologia e Diagnostica per Immagini, Universita di Roma Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
    Trends Mol Med 9:370-5. 2003
    ..These results have initiated analysis of the relationship between disease phenotype and gene, and have led to dramatic advances in our knowledge of the dynamic and complex organization of the nuclear architecture...
  21. ncbi UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?
    G Novelli
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Via di Tor Vergata 135 00133 Rome, Italy
    Trends Genet 15:251-4. 1999
    ..The biochemical mechanisms underlying these phenotypes remain undetermined. A recent study provides new insight into the mechanism by which gene deletions produce the DGS and VCFS phenotypes...
  22. ncbi Pharmacogenetics of human androgens and prostatic diseases
    G Novelli
    Dipartimento di Biopatologia e Diagnostica per Immagini, Universita di Roma Tor Vergata, 00133 Roma, Italy
    Pharmacogenomics 2:65-72. 2001
    ..Pharmacogenomic investigation of constitutional and somatic DNA changes in human genes predisposing to cancer may lead to significant advances in chemoprevention, presymptomatic diagnosis and improved treatment of PCa...
  23. ncbi Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3
    F Sangiuolo
    Dipartimento di Biopatologia e Diagnostica per Immagini, Sezione di Genetica, Università Tor Vergata Rome, Italy
    Eur J Hum Genet 8:809-12. 2000
    ..We now report the fine mapping of the disease locus within an interval of 250 Kb by haplotype analysis performed using a set of 11 novel microsatellite markers isolated from the candidate region...
  24. ncbi Safety of polymyxin-B-based hemoperfusion in kidney and liver transplant recipients
    G Novelli
    Department P Stefanini General Surgery and Organs Transplant, Sapienza University, Rome, Italy
    Transplant Proc 44:1966-72. 2012
    ..We think it might be useful to determine EA routinely in transplant patients and look forward to large multicenter clinical trials to accurately assess the benefits of the EAA plus DHP-PMX to treat transplant patients with sepsis...
  25. ncbi Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21
    F Capon
    Department of Biopathology, Tor Vergata University of Rome, Italy
    J Invest Dermatol 116:728-30. 2001
    ..Altogether our data indicate that the 1q21 susceptibility gene may be localized in the genomic interval spanned by D1S2346 and 140J1D. This report provides evidence supporting the refinement of a non-HLA psoriasis susceptibility locus...
  26. ncbi Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22
    M Mangino
    Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma Tor Vergata and Istituto CSS Mendel, Rome, Italy
    Am J Hum Genet 65:441-7. 1999
    ..39, with a most likely location for the disease gene between D17S787 and D17S1604. Sequencing of the noggin gene, a candidate mapping between these markers, failed to reveal any mutation in affected subjects...
  27. ncbi Mapping a dominant form of multinodular goiter to chromosome Xp22
    F Capon
    Department of Biopathology, Tor Vergata University of Rome, Rome, Italy
    Am J Hum Genet 67:1004-7. 2000
    ..73 at a recombination fraction of 0. Analysis of six flanking microsatellites confirmed these data, and haplotype inspection delimited a 9.6-cM interval lying between DXS1052 and DXS8039...
  28. ncbi Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests
    A Botta
    Department of Biopathology, Tor Vergata University of Rome, Rome, Italy
    Neurology 65:1631-5. 2005
    ..SMA is caused by loss or mutation of the telomeric survival motor neuron gene (SMN1), which is deleted in almost 94% of SMA patients..
  29. ncbi The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients
    A Botta
    Tor Vergata University of Rome, Department of Biopathology, Via Montpellier, 1, 00133 Rome, Italy
    J Med Genet 45:639-46. 2008
    ..Untranslated expanded DMPK transcripts are retained in ribonuclear foci which sequester CUG-binding proteins essential for the maturation of pre-mRNAs...
  30. ncbi A single strand conformation polymorphism-based carrier test for spinal muscular atrophy
    S Semprini
    Dipartimento di Biopatologia e Diagnostica per Immagini, , Italy
    Genet Test 5:33-7. 2001
    ..Therefore, the present test is effective for detecting compound hemizygote patients, for testing carriers in SMA families, and for screening for SMA heterozygotes in the general population...
  31. ncbi Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients
    F Rinaldi
    Department of Biopathology, University of Rome Tor Vergata, Rome, Italy
    Acta Myol 27:82-9. 2008
    ..These findings suggest that modifier genes, other than SK3, should be identified in order to explain the cardiac phenotypic variability among DM1 patients...
  32. ncbi Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26
    M Mangino
    CSS Mendel Institute, IRCCS, Rome, Italy
    Eur J Hum Genet 9:667-71. 2001
    ..This region does not overlap with DFNB16 locus but partially coincides with the otosclerosis (OTS) locus. Localisation of the locus DFNA30 is a first step towards the identification of the gene...
  33. ncbi Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene
    Chiara Conte
    Fondazione Policlinico Tor Vergata, Rome, Italy
    Genet Test Mol Biomarkers 13:127-31. 2009
    ..This study documents for the first time a molecular prenatal diagnosis of CSA, which results in the preferred approach if the mutation within the family is identified in a timely manner...
  34. ncbi Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues
    F Rinaldi
    Dept of Biopathology, Tor Vergata University of Rome, Rome, Italy
    Neurobiol Dis 45:264-71. 2012
    ..In line with the thesis of an "RNA gain of function" hypothesis described for the CTG mutation, we conclude that the alterations of the MYH14 gene may contribute to the DM1 molecular pathogenesis...
  35. ncbi Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients
    K Margiotti
    Dipartimento di Biopatologia e Diagnostica per Immagini, Sezione di Genetica, Universita Tor Vergata, Via di Tor Vergata 135, 00133 Rome, Italy
    Dis Markers 16:147-50. 2000
    ..In conclusion, we report on preliminary evidence for both increased and decreased risk associated with separate markers at this locus...
  36. ncbi Management of hepatitis C virus infection in liver transplantation with adacolumn apheresis
    G Novelli
    Department P Stefanini of General Surgery and Organs Transplant, Sapienza University, Rome, Italy
    Transplant Proc 44:1946-52. 2012
    ..Although this study investigated the responses among a small number of patients, it documented that the Adacolumn changed cellular immunity, promoting early virologic responses...
  37. ncbi SOS1 over-expression in genital skin fibroblasts from hirsute women: a putative role of the SOS1/RAS pathway in the pathogenesis of hirsutism
    D Minella
    Dept of Biopathology, Tor Vergata University, Rome, Italy
    J Biol Regul Homeost Agents 25:615-26. 2011
    ....
  38. ncbi Expression study of survival motor neuron gene in human fetal tissues
    G Novelli
    Dipartimento di Sanita Pubblica e Biologia Cellulare, Universita di Tor Vergata, Rome, Italy
    Biochem Mol Med 61:102-6. 1997
    ..The present data confirm a housekeeping role for the SMN protein and may have implications on the search for early therapeutic strategies...
  39. ncbi The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles
    R Massa
    Department of Neurosciences, Tor Vergata University of Rome, Via Montpellier 1, I 00133, Rome, Italy
    Neuropathol Appl Neurobiol 36:275-84. 2010
    ..The aim of the present work was therefore to assess ZNF9 protein expression in rat tissues and in human muscle, and ZNF9 subcellular distribution in normal and DM2 human muscles...
  40. ncbi Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa
    A De Luca
    Dipartimento di Biopatologia e Diagnostica per Immagini, , Rome, Italy
    Mutat Res 432:79-82. 2001
    ..These mutations are expected to introduce a stop codon within the RP2 coding sequence probably resulting in a truncated or unstable protein...
  41. ncbi Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays
    Francesca Amati
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Via Montpellier 1, 00133 Roma, Italy
    Gene Expr 12:39-47. 2004
    ..Further characterization of these effects might contribute to understanding the molecular pathogenesis of this disorder...
  42. ncbi Glasgow coma score and tumor necrosis factor α as predictive criteria for initial poor graft function
    G Novelli
    Department P Stefanini of General Surgery and Organs Transplant, Sapienza University, Rome, Italy
    Transplant Proc 44:1820-5. 2012
    ..Validating these results with a larger number of patients, we considered these 2 factors as subjective parameters to determine outcomes and the difference between PNF and DGF...
  43. ncbi Androgen- and insulin-related gene signature using a specific low density oligoarray AndroChip 2 in peripheral blood mononuclear cells in agonists, recreational athletes and sedentary subjects
    D Minella
    Department of Biopathology, Tor Vergata University, Fatebenefratelli Hospital S Pietro, Rome, Italy
    J Biol Regul Homeost Agents 24:413-23. 2010
    ....
  44. ncbi Association study of a promoter polymorphism of UFD1L gene with schizophrenia
    A De Luca
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Via di Tor Vergata 135, 00133 Rome, Italy
    Am J Med Genet 105:529-33. 2001
    ..The results are supportive of UFD1L involvement in the neurodevelopmental origin of schizophrenia and contribute in delineating etiological and pathogenetic mechanism of the schizophrenia subtype related to 22q11.2 deletion syndrome...
  45. ncbi Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L)
    A Botta
    Department of Biopathology, Tor Vergata University of Rome, Rome, Italy
    Gene 275:39-46. 2001
    ....
  46. ncbi Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype
    Francesca Lombardi
    Department of Biopathology and Diagnostic Imaging, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
    J Clin Endocrinol Metab 92:4467-71. 2007
    ..Most Italian patients carry the same homozygous missense mutation (p.R527H) in the C-terminal tail domain of the LMNA gene, which encodes lamin A/C, an intermediate filament component of the nuclear envelope...
  47. ncbi Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells
    P Spitalieri
    Dept of Biopathology, Tor Vergata University of Rome, via Montpellier 131, 00133 Rome, Italy
    Eur Respir J 39:446-57. 2012
    ..In conclusion, cell therapy using HUES-3 cells may be considered a promising approach to lung injury repair...
  48. ncbi Italian guidelines for molecular analysis in myotonic dystrophies
    A Botta
    Department of Biopatologia e Diagnostica per Immagini, Tor Vergata University, Rome, Italy
    Acta Myol 25:23-33. 2006
    ..Overviews of materials used in the molecular diagnosis, as well as internet resources, are also included...
  49. ncbi Familial mandibuloacral dysplasia: report of an additional Italian patient
    C Tudisco
    Cattedra di Chirurgia della Mano, Universita degli Studi di Roma Tor Vergata, Rome, Italy
    Am J Med Genet 94:237-41. 2000
    ..Mandibuloacral dysplasia is a rare condition. Only 11 families have been reported and five of them were Italian, while consanguinity was found only in one report. We describe an additional Italian patient born from consanguineous parents...
  50. ncbi Genomic instability associated with myotonic dystrophy does not involve p53 expression and activity
    M Gennarelli
    Department of Public Health and Cell Biology, Tor Vergata University, Rome, Italy
    Cell Biochem Funct 16:117-22. 1998
    ..The escape of trinucleotide expansion from the p53-mediated DNA repair system could explain some of the biological characteristics of genome instability...
  51. ncbi Effects of TNF-α and IL-1 β on the activation of genes related to inflammatory, immune responses and cell death in immortalized human HaCat keratinocytes
    S Nistico
    Department of Dermatology, School of Medicine, University of Rome Tor Vergata, Rome, Italy
    Int J Immunopathol Pharmacol 23:1057-72. 2010
    ....
  52. ncbi Population differences in allele frequencies at the OLR1 locus may suggest geographic disparities in cardiovascular risk events
    Irene M Predazzi
    Department of Biopathology and Diagnostic Imaging, Section of Medical Genetics, School of Medicine, Tor Vergata University, Via Montpellier 1, Rome, Italy
    Ann Hum Biol 37:136-48. 2010
    ..We have previously characterized two polymorphisms (rs3736235 and rs11053646) associated with the risk for coronary artery disease (CAD) and acute myocardial infarction (AMI)...
  53. ncbi Typing of ARMS2 and CFH in age-related macular degeneration: case-control study and assessment of frequency in the Italian population
    Federico Ricci
    Unità Operative Semplici Dipartimentali Patologia Retinica Fondazione PTV Policlinico Tor Vergata, Rome, Italy
    Arch Ophthalmol 127:1368-72. 2009
    ....
  54. ncbi Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population
    Paola Borgiani
    Centro di Eccellenza per lo Studio del Rischio Genomico in Patologie Complesse Multifattoriali, Facolta di Medicina, Universita di Roma Tor Vergata, Via Montpellier 1, Italy
    Eur J Dermatol 12:540-2. 2002
    ..We failed to observe any significant difference between patients and controls, thereby excluding the presence of a strong genetic association between CARD15 gene polymorphisms and psoriasis, in the Italian population...
  55. ncbi Early subclinical cochlear dysfunction in myotonic dystrophy type 1
    V Pisani
    Department of Neurosciences, University of Rome Tor Vergata, Italy
    Eur J Neurol 18:1412-6. 2011
    ..OHCs status has not yet been investigated in DM1 patients. OHCs integrity can be assessed by measuring transient-evoked otoacoustic emissions (TEOAE), a non-invasive, repeatable, and objective quantitative tool...
  56. ncbi Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population
    L Vallo
    Cattedra di Genetica Umana, Dipartimento di Biopatologia e Diagnostica per Immagini, Facolta di Medicina e Chirurgia, Universita di Roma Tor Vergata, 00133 Rome, Italy
    Mol Cell Probes 19:71-4. 2005
    ..We genotyped this SNP in 30 unrelated DM2 patients and 70 unrelated Italians healthy individuals. Our results show that this polymorphism is in linkage disequilibrium with the DM2 mutation...
  57. ncbi Management of sepsis during MARS treatment in acute on chronic liver failure
    G Novelli
    Dipartimento P Stefanini, Chirurgia Generale E Trapianti d Organo, Sapienza Universita di Roma, Rome, Italy
    Transplant Proc 43:1085-90. 2011
    ....
  58. ncbi A pilot study on the transcriptional response of androgen- and insulin-related genes in peripheral blood mononuclear cells induced by testosterone administration in hypogonadal men
    M G Giganti
    Department of Experimental Medicine and Biochemical Sciences, Tor Vergata University, Rome, Italy
    J Biol Regul Homeost Agents 25:291-4. 2011
    ..49, UGT2B17 FC=2.88) and two were down-regulated (ARA55 FC= -2.0, CYP11A FC= -2.47). This experience suggests that androgen- and insulin-related genes can be considered useful blood genomic biomarkers for specific steroid drugs...
  59. ncbi Forensic DNA challenges: replacing numbers with names of Fosse Ardeatine's victims
    Ilenia Pietrangeli
    Department of Biopathology and Diagnostic Imaging, Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Tor Vergata, Rome, Italy
    J Forensic Sci 54:905-8. 2009
    ..Our analysis indicated that remains recovered in grave number 329 do not belong to MM. This result suggests that genetic analysis of the remains should be also applied to the other 12 unknown corpses to elucidate their identity...
  60. ncbi Nevirapine-induced hepatotoxicity and pharmacogenetics: a retrospective study in a population from Mozambique
    Cinzia Ciccacci
    Department of Biopathology and Diagnostic Imaging, Section of Genetics, Tor Vergata University, Rome, Italy
    Pharmacogenomics 11:23-31. 2010
    ..Aims: Nevirapine is widely used to treat HIV-1 infection to prevent mother-to-child transmission; unfortunately adverse drug reactions have been reported. Our aim was to identify genes/variants involved in nevirapine-induced hepatotoxicity...
  61. ncbi The splice variant LOXIN inhibits LOX-1 receptor function through hetero-oligomerization
    Silvia Biocca
    Department of Neuroscience and Laboratory of Clinical Biochemistry, University of Tor Vergata, Rome, Italy
    J Mol Cell Cardiol 44:561-70. 2008
    ..Our studies suggest that hetero-oligomerization between naturally occurring isoforms of LOX-1 may represent a general paradigm for regulation of LOX-1 function by its variants...
  62. ncbi Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studies
    Francesca Amati
    Dipartimento di Biopatologia e Diagnostica per Immagini, Universita di Roma Tor Vergata, Rome, Italy
    Cell Biochem Funct 21:263-7. 2003
    ..We established that in mammalian cells, Ufd1l is localized around the nucleus and that it does not interfere with Fas-and ceramide-mediated apoptosis...
  63. ncbi Preliminary study of early histomorphometric changes in hepatic steatosis
    F Marinozzi
    Department of Clinical Engineering, Sapienza University of Rome, Rome, Italy
    Transplant Proc 44:1837-42. 2012
    ..0017 mm(2)). The LHR value showed that the morphometric parameter SA/PA could be quantitatively interpreted also as a functional impairment relative to the increased resistance opposing blood flow in pathologic conditions...
  64. ncbi Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2
    Vincenzo Romeo
    Department of Neurosciences, School of Medicine, University of Padova, Via Giustiniani, 5, 35128 Padua, Italy
    J Neurol 257:1246-55. 2010
    ..A temporo-insular diffuse lesional pattern, specific for DM1, was found on MRI. This confirms greater expansion size as a risk factor for more extensive brain involvement in DM1...
  65. ncbi Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome
    F Lombardi
    Department of Biopathology and Diagnostic Imaging, University of Rome Tor Vergata, Rome, Italy
    Clin Genet 74:374-83. 2008
    ..These data suggest a possible involvement of MMP-9 in MADA disease, underlying the potential use in diagnosis and therapy...
  66. ncbi Cftr gene targeting in mouse embryonic stem cells mediated by Small Fragment Homologous Replacement (SFHR)
    Federica Sangiuolo
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy
    Front Biosci 13:2989-99. 2008
    ..Once the SFHR-modified ES cells differentiate into different cell lineages they can be useful for elucidating tissue-specific gene function and for the development of transplantation-based cellular and therapeutic protocols...
  67. ncbi Frequency assessment of SNPs for forensic identification in different populations
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    Forensic Sci Int Genet 1:e1-3. 2007
    ..The populations analyzed included Africans from Benin Gulf (180), Asians from Mongolia (160) and Europeans from Italy (680)...
  68. ncbi Valproic acid induces neuroendocrine differentiation and UGT2B7 up-regulation in human prostate carcinoma cell line
    Alessandra Valentini
    Department of Internal Medicine PTV, Consorzio interuniversitario per le Applicazioni di Supercalcolo Per Universitàe Ricerca CASPUR, Rome, Italy
    Drug Metab Dispos 35:968-72. 2007
    ..Our data seem to raise concern about CaP treatment with VPA...
  69. ncbi A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15
    Emiliano Giardina
    Department of Biopathology, Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Italy
    Electrophoresis 29:4775-9. 2008
    ..In this work we developed and validated a two fluorescent STRs multiplex assay for a rapid, economic and fully informative detection of UPD 15 by capillary electrophoresis...
  70. ncbi Towards the pharmacogenomics of cystic fibrosis
    Federica Sangiuolo
    Dipartimento di Biopatologia e Diagnostica per Immagini, , 00133 Roma, Italy
    Pharmacogenomics 3:75-87. 2002
    ..Therefore, knowing the genotype of a patient might help improve drug efficacy, reduce toxicity and suggests innovative genomic-based therapy approaches...
  71. ncbi Genomic biomarkers, androgen pathway and prostate cancer
    Michela Biancolella
    Dipartimento di Biopatologia e Diagnostica per Immagini, Universita di Roma Tor Vergata, 00133 Roma, Italy
    Pharmacogenomics 8:645-61. 2007
    ....
  72. ncbi CYP4F2 genetic variant (rs2108622) significantly contributes to warfarin dosing variability in the Italian population
    Paola Borgiani
    Department of Biopathology and Diagnostic Imaging, School of Medicine, Tor Vergata University, Rome, Italy
    Pharmacogenomics 10:261-6. 2009
    ..Numerous papers have shown the important contribution of CYP2C9 and VKORC1 genetic variants to this variability. Recently, a new SNP within the CYP4F2 gene was found associated with warfarin dose in the USA...
  73. ncbi A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01
    Emiliano Giardina
    Department of Biopathology, Tor Vergata University of Rome, Italy
    Electrophoresis 31:3525-30. 2010
    ..The results of our study were first compared with a standard sequence-specific primer PCR technique and reported a concordance of 100%, and then a blind external validation further confirmed the accuracy of our method...
  74. ncbi Analysis of TNF-alpha promoter polymorphisms in the susceptibility to beryllium hypersensitivity
    Chiara Dotti
    Department of Internal Medicine, University of Rome Tor Vergata, Rome, Italy
    Sarcoidosis Vasc Diffuse Lung Dis 21:29-34. 2004
    ..Since a number of TNF-alpha promoter sequence variants have been associated with higher or lower gene-expression, the entire TNF-alpha promoter region was screened for BH-associated variants...
  75. ncbi Personalized genomic medicine
    Giuseppe Novelli
    Preside Facoltà Medicina e Chirurgia, Tor Vergata, Rome, Italy
    Intern Emerg Med 5:S81-90. 2010
    ..Personalize medicine is a direct extension of the genomic medicine that use genetic information to prevent or treat disease in adults or their children...
  76. ncbi Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism
    Stefano Gambardella
    Department of Biopathology and Imaging Diagnostic, Tor Vergata University, Via Montpellier 1, 00133 Rome, Italy
    Prenat Diagn 24:981-3. 2004
    ..These data are important for genetic counseling and prenatal diagnosis and illustrate the importance of full sequence data when studying rare mutations. Copyright (c) 2004 John Wiley & Sons, Ltd...
  77. ncbi Allelic variants in the CYP2C9 and VKORC1 loci and interindividual variability in the anticoagulant dose effect of warfarin in Italians
    Paola Borgiani
    Tor Vergata University, Department of Biopathology and Diagnostic Imaging, Section of Genetics, School of Medicine, Via Montpellier 1, 00133 Rome, Italy
    Pharmacogenomics 8:1545-50. 2007
    ....
  78. ncbi Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi
    Paola Spitalieri
    Department of Biopathology, Genetics Unit, Tor Vergata University of Rome, Via Montpellier, Italy
    Cloning Stem Cells 11:535-56. 2009
    ..These cells may be a safe and convenient source of cells for cell-based therapy, as well as an ideal target for in utero fetal gene therapy...
  79. ncbi In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement
    Federica Sangiuolo
    Human Genetics Section, Department of Biopathology, Tor Vergata University, 00133 Rome, Italy
    Hum Gene Ther 16:869-80. 2005
    ..Furthermore, genotype and phenotype of transfected cells remained stable after several in vitro passages, demonstrating the stability of the correction over time...
  80. ncbi A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7
    Emiliano Giardina
    Department of Biopathology, Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Italy
    Electrophoresis 30:2008-11. 2009
    ..Here we developed and validated, for the first time, an effective, CE-based method for a rapid and economic detection based on two-fluorescent STR multiplexes...
  81. ncbi Biomarkers in COPD
    Mario Cazzola
    Department of Internal Medicine, Respiratory Clinical Pharmacology Unit, University of Rome Tor Vergata, Rome, Italy
    Pulm Pharmacol Ther 23:493-500. 2010
    ....
  82. ncbi PSORS2 markers are not associated with psoriatic arthritis in the Italian population
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    Hum Hered 61:120-2. 2006
    ..Our results ruled out PSORS2 alleles as susceptibility factors in arthritis psoriatic patients of Italian origin and suggested that previous linkage signal reported for chromosome 17q25 should be independent on the presence of PsA...
  83. ncbi Functional analysis and molecular dynamics simulation of LOX-1 K167N polymorphism reveal alteration of receptor activity
    Silvia Biocca
    Department of Neuroscience, University of Tor Vergata, Rome, Italy
    PLoS ONE 4:e4648. 2009
    ..The N/N-LOX-1 mutant has either interrupted electrostatic potential and asymmetric fluctuations of the basic spine arginines...
  84. ncbi Past, present and future of forensic DNA typing
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, University of Rome Tor Vergata, Rome, Italy
    Nanomedicine (Lond) 6:257-70. 2011
    ..Nowadays, we can individualize single cells left at the crime scene or analyze ancient human remains. Here, we provide a general view on the past, current and likely future directions of forensic DNA analysis...
  85. ncbi Dopamine D4 receptor (DRD4) polymorphism and adaptability trait during infancy: a longitudinal study in 1- to 5-month-old neonates
    A De Luca
    Dipartimento di Biopatologia e Diagnostica per Immagini, Sezione di Genetica, Universita di Roma Tor Vergata, Via di Tor Vergata 135, 00133 Rome, Italy
    Neurogenetics 3:79-82. 2001
    ..These results confirm and extend the genetic influence of the DRD4 gene in human temperament at birth...
  86. ncbi "The Linosa Study": epidemiological and heritability data of the metabolic syndrome in a Caucasian genetic isolate
    A Bellia
    Department of Internal Medicine, University of Rome Tor Vergata, I 00133 Rome, Italy
    Nutr Metab Cardiovasc Dis 19:455-61. 2009
    ....
  87. ncbi Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
    M Pierdominici
    Laboratory of Cell Biology, Istituto Superiore di Sanit, Rome, Italy
    Clin Exp Immunol 132:323-31. 2003
    ..These findings suggest that the diversity of CD4 and CD8 TCRBV repertoires is decreased in patients with del22q11.2 syndrome, possibly as a result of either impaired thymic function and/or increased T-cell activation...
  88. ncbi Gene expression profile study in CFTR mutated bronchial cell lines
    S Gambardella
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Via Montpellier 1, I 00133, Rome, Italy
    Clin Exp Med 6:157-65. 2006
    ..The identification of the genes altered by a specific CF mutation could lead to the development of a pharmacological approach specific for different CFTR genotypes...
  89. ncbi Sequence-specific modification of mouse genomic DNA mediated by gene targeting techniques
    F Sangiuolo
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy
    Cytogenet Genome Res 105:435-41. 2004
    ..The purpose of this paper is to review oligonucleotide-based gene targeting technologies and their applications on modifying the mouse genome...
  90. ncbi Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia
    Alessandro De Luca
    IRCCS CSS San Giovanni Rotondo, Rome, Italy
    Am J Med Genet B Neuropsychiatr Genet 116:32-5. 2003
    ..0051; schizophrenics: n = 378, W = 161,002.5, Mean rank = 425.9325; controls: n = 444, W = 177,250.5, Mean rank = 399.2128). This result may indicate a possible involvement of the multiprotein complex PC2 in schizophrenia susceptibility...
  91. ncbi Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: identification of 14 novel mutations in Italian patients
    Chiara Conte
    Azienda Ospedaliera Universitaria Policlinico di Tor Vergata, Rome, Italy
    Genet Test 12:437-42. 2008
    ..T378M), may irreversibly invalidate the EDA-A1 binding properties. Our data confirm and extend the large spectrum of EDA1 mutations and provide a rapid and efficient molecular protocol for testing EDA1 mutations in EDA patients...
  92. ncbi Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues
    Gianmarco Contino
    Department of Biopathology, Institute of Anatomic Pathology, Tor Vergata University of Rome, Italy
    Gene 328:69-74. 2004
    ....
  93. ncbi In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarction
    Ruggiero Mango
    Department of Biopathology and Diagnostic Imaging, University of Tor Vergata, Via Montpellier 1, Rome, Italy
    Circ Res 97:152-8. 2005
    ..The demonstration that increasing levels of LOXIN protect cells from LOX-1 induced apoptosis sets a groundwork for developing therapeutic approaches for prevention of plaque instability...
  94. ncbi Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study
    Ettore Capoluongo
    Laboratory of Clinical Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, School of Medicine, Catholic University, Largo F Vito 1, 00168, Rome, Italy
    Intensive Care Med 33:1787-94. 2007
    ..Several MBL2 genetic variants have been described, including the six variants studied in this report, which are those analyzed in most detail in the medical literature...
  95. ncbi CARD15 mutation analysis in an Italian population: Leu1007fsinsC but neither Arg702Trp nor Gly908Arg mutations are associated with Crohn's disease
    Piero Vavassori
    Cattedra di Gastroenterologia, Centro d eccellenza per lo studio del rischio genomico in patologie complesse e multifattoriali, Universita Tor Vergata, Rome, Italy
    Inflamm Bowel Dis 10:116-21. 2004
    ..The purpose of this study was to evaluate the frequency of the main mutations of the CARD15 gene (Leu 1007fsinsC, Arg702Trp, and Gly908Arg) in Italian CD patients and to establish possible genotype-phenotype correlations...
  96. ncbi Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population
    Emiliano Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome, Rome, Italy
    J Invest Dermatol 122:1106-7. 2004
    ....
  97. ncbi Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees
    Sabrina Semprini
    Cattedra di Genetica, Edificio E Nord, piano terra, , Via di Tor Vergata 135, 00133 Rome, Italy
    Hum Genet 111:310-3. 2002
    ..Thus, our data provide preliminary evidence for a locus-specific molecular mechanism underlying psoriasis susceptibility...
  98. ncbi A pilot beta-thalassaemia screening program in the Albanian population for a health planning program
    Leila Baghernajad-Salehi
    U O C Genetica Medica, Fondazione Policlinico Tor Vergata, Viale Oxford 81, Rome, Italy
    Acta Haematol 121:234-8. 2009
    ..Implementation of a routine carrier-screening programme is significantly facilitated by the presence of only two mutations and would be a wise approach to prevent beta-thalassaemia in the region...
  99. ncbi Multimodal therapy with combined plasmapheresis, photoapheresis, and intravenous immunoglobulin for acute antibody-mediated renal transplant rejection: a 2-year follow-up
    Q Lai
    Department of General Surgery and Organ Transplantation, Sapienza University, Rome, Italy
    Transplant Proc 43:1039-41. 2011
    ..The aim of this study was to report an initial single-center experience of combined PT and ECP with high-dose intravenous immunoglobulin (IVIg) for the treatment of AMAR...
  100. ncbi Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: response to 12-month triiodothyroacetic acid (TRIAC) therapy
    P Torre
    Rina Balducci Center of Pediatric Endocrinology, Department of Public Health and Cell Biology; Tor Vergata University, Rome, Italy
    J Endocrinol Invest 28:657-62. 2005
    ..CONCLUSIONS: ADHD was the only phenotypic manifestation of this novel mutation of thyroid hormone (TH) receptor. TRIAC is an effective and safe drug in the long-term treatment of children with RTH...
  101. ncbi Characterization of the loricrin (LOR) gene as a positional candidate for the PSORS4 psoriasis susceptibility locus
    E Giardina
    Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases, School of Medicine, Tor Vergata University of Rome
    Ann Hum Genet 68:639-45. 2004
    ..However, no evidence for genetic association was detected in a large cohort of Italian nuclear families. This rules out the LOR gene as a candidate for the PSORS4 locus...