Federica Sangiuolo

Summary

Affiliation: University of Rome Tor Vergata
Country: Italy

Publications

  1. ncbi request reprint Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency
    Federica Sangiuolo
    Department of Biopathology, Human Genetics Unit, Tor Vergata University of Rome, Italy
    Hum Mutat 23:396. 2004
  2. ncbi request reprint Toward the pharmacogenomics of cystic fibrosis--an update
    Federica Sangiuolo
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Roma, Italy
    Pharmacogenomics 5:861-78. 2004
  3. doi request reprint 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
  4. ncbi request reprint Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced
    P Spitalieri
    Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy
    Sarcoidosis Vasc Diffuse Lung Dis 30:177-85. 2013
  5. doi request reprint Diagnostic CFTR mutation analysis
    Maria Rosaria D'Apice
    Tor Vergata University and AOU Policlinico Tor Vergata, Department of Biopathology, Via Montpellier, 1 00133 Rome, Italy 39 06 72596164 39 06 20427313
    Expert Opin Med Diagn 2:191-205. 2008
  6. pmc 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
  7. pmc 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
  8. ncbi request reprint 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
  9. pmc 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. doi request reprint Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes
    Cinzia Ciccacci
    Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy
    Acta Diabetol 51:663-71. 2014

Collaborators

Detail Information

Publications31

  1. ncbi request reprint Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency
    Federica Sangiuolo
    Department of Biopathology, Human Genetics Unit, Tor Vergata University of Rome, Italy
    Hum Mutat 23:396. 2004
    ..coli system. These findings indicate the pathogeneticity of these mutations causing GALK deficiency...
  2. ncbi request reprint Toward the pharmacogenomics of cystic fibrosis--an update
    Federica Sangiuolo
    Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Roma, Italy
    Pharmacogenomics 5:861-78. 2004
    ..In this review, we summarize recent advances, both in the pharmacological and gene therapy field, aimed for the treatment of the disease...
  3. doi request reprint 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...
  4. ncbi request reprint Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced
    P Spitalieri
    Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy
    Sarcoidosis Vasc Diffuse Lung Dis 30:177-85. 2013
    ....
  5. doi request reprint Diagnostic CFTR mutation analysis
    Maria Rosaria D'Apice
    Tor Vergata University and AOU Policlinico Tor Vergata, Department of Biopathology, Via Montpellier, 1 00133 Rome, Italy 39 06 72596164 39 06 20427313
    Expert Opin Med Diagn 2:191-205. 2008
    ..Once this goal is reached, a more accurate calculation of risk recurrence will improve and strengthen the value of the genetic counselling, helping CF families in their reproductive options...
  6. pmc 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...
  7. pmc 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...
  8. ncbi request reprint 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...
  9. pmc 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. doi request reprint Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes
    Cinzia Ciccacci
    Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy
    Acta Diabetol 51:663-71. 2014
    ..This is the first study showing that genetic variability in miRNA genes could be involved in diabetic neuropathies susceptibility. ..
  11. doi request reprint MicroRNA genetic variations: association with type 2 diabetes
    Cinzia Ciccacci
    Department of Biomedicine and Prevention, Genetics Section, University of Rome Tor Vergata, Via Montpellier 1, 00133, Rome, Italy
    Acta Diabetol 50:867-72. 2013
    ..58 and P = 0.008), while the G allele of rs531564 in hsa-mir-124a appears to be a risk allele (OR = 2.15, P = 0.008). This is the first report indicating that genetic polymorphisms in miRNA regions could contribute to T2DM susceptibility...
  12. doi request reprint 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...
  13. doi request reprint Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations
    Raffaella Cascella
    Department of Biomedicine and Prevention, School of Medicine, University of Rome Tor Vergata, Rome, Italy
    Electrophoresis 37:860-4. 2016
    ..In conclusion, the Cx26 and Cx26-30 molecular assays can be applied to individual, preconception, prenatal, or postnatal screening for the causative-mutations of NSHL. ..
  14. doi request reprint Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases
    Paola Spitalieri
    1 Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, 00133, Italy
    Cell Reprogram 17:275-87. 2015
    ..These data suggest that hiPSCs-CV/AF can be considered a valid cellular model to accomplish pathogenesis studies and therapeutic applications. ..
  15. pmc A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA)
    Andrea Luchetti
    Department of Biomedicine and Prevention, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy
    Int J Mol Sci 16:18312-27. 2015
    ..We suggest that such miRNAs may be related to the proliferation differences characterizing SMNĪ”7 NSCs, and may be potentially involved in the molecular mechanisms of SMA. ..
  16. pmc IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophy
    Michela Murdocca
    Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy
    Mol Med 18:1076-85. 2012
    ..Collectively, our data indicate IPLEX as a good therapeutic candidate to hinder the progression of the neurodegenerative process in SMA...
  17. doi request reprint 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...
  18. ncbi request reprint 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...
  19. pmc Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay system
    Andrea Luchetti
    Department of Biopathology and Diagnostic Imaging, Medical Genetics Section, School of Medicine, Tor Vergata University, Rome, Italy
    PLoS ONE 7:e30851. 2012
    ..In this study, for the first time SFHR efficiency issue was systematically approached and in part addressed, therefore opening new potential therapeutic ex-vivo applications...
  20. ncbi request reprint 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...
  21. doi request reprint 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...
  22. doi request reprint Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis
    Adalgisa Pietropolli
    Clinical Department of Surgery, Division of Gynecology and Prenatal Diagnosis, Tor Vergata University Hospital, Rome, Italy
    J Matern Fetal Neonatal Med 27:1656-60. 2014
    ....
  23. pmc Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
    Maria Rosaria D'Apice
    Fondazione Policlinico Tor Vergata, Rome, Italy
    BMC Med Genet 16:20. 2015
    ..Unsuccessful" duplicates that remain in the genome as pseudogenes often exhibit functional roles. So, changes in gene and pseudogene number may contribute to development or act as susceptibility alleles of diseases...
  24. doi request reprint Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragments
    Andrea Luchetti
    Medical Genetics Section, Department of Biomedicine and Prevention, School of Medicine, Tor Vergata University, Rome, Italy
    Methods Mol Biol 1114:85-101. 2014
    ..In this chapter we describe the main guidelines that should be followed in SFHR application, in order to increase technique efficiency...
  25. doi request reprint Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing
    Raffaella Cascella
    Department of Biomedicine and Prevention, School of Medicine, University of Rome Tor Vergata, Rome, Italy
    Pharmacogenomics 16:1039-46. 2015
    ..Our work aimed to designate the optimal DNA source for pharmacogenetic assays, such as the screening for HLA-B*57:01 allele...
  26. pmc Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene
    Francesco Garaci
    Department of Diagnostic Imaging, Molecular Imaging, Interventional Radiology and Radiotherapy, Policlinico Tor Vergata University Hospital, Italy Department of Biomedicine and Prevention, Tor Vergata University, Italy
    Neuroradiol J 28:289-93. 2015
    ..By contrast, proper post-gadolinium scans may aid defining dural lesions in CCM patients and are indicated in PDCD10-mutated individuals. ..
  27. pmc 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...
  28. doi request reprint TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy
    Cinzia Ciccacci
    Department of Biomedicine and Prevention, Section of Medical Genetics, School of Medicine, University of Rome Tor Vergata, 00133, Rome, Italy
    Acta Diabetol 50:789-99. 2013
    ....
  29. pmc Sequence-specific modification of genomic DNA by small DNA fragments
    Dieter C Gruenert
    Department of Medicine, University of Vermont, Burlington, Vermont, USA
    J Clin Invest 112:637-41. 2003
    ....
  30. ncbi request reprint Towards the pharmacogenomics of cystic fibrosis
    Federica Sangiuolo
    Dipartimento di Biopatologia e Diagnostica per Immagini, Universita di Roma Tor Vergata, 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...