Genomes and Genes
Affiliation: University of Rome Tor Vergata
- Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiencyFederica 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...
- Toward the pharmacogenomics of cystic fibrosis--an updateFederica 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...
- Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cellsP 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...
- Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-inducedP Spitalieri
Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy
Sarcoidosis Vasc Diffuse Lung Dis 30:177-85. 2013....
- Diagnostic CFTR mutation analysisMaria 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...
- Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central ItalyMaria 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...
- In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacementFederica 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...
- 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...
- Novel mutations of TCOF1 gene in European patients with Treacher Collins syndromeChiara 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...
- Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetesCinzia 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. ..
- MicroRNA genetic variations: association with type 2 diabetesCinzia 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...
- Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 geneChiara 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...
- 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 SMNΔ7 NSCs, and may be potentially involved in the molecular mechanisms of SMA. ..
- Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic DiseasesPaola 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. ..
- IPLEX administration improves motor neuron survival and ameliorates motor functions in a severe mouse model of spinal muscular atrophyMichela 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...
- Identification of multipotent cytotrophoblast cells from human first trimester chorionic villiPaola 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...
- In vivo and in vitro studies support that a new splicing isoform of OLR1 gene is protective against acute myocardial infarctionRuggiero 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...
- Small fragment homologous replacement: evaluation of factors influencing modification efficiency in an eukaryotic assay systemAndrea 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...
- Analysis of intracellular distribution and apoptosis involvement of the Ufd1l gene product by over-expression studiesFrancesca 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...
- A pilot beta-thalassaemia screening program in the Albanian population for a health planning programLeila 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...
- Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosisAdalgisa 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....
- 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...
- Small Fragment Homologous Replacement (SFHR): sequence-specific modification of genomic DNA in eukaryotic cells by small DNA fragmentsAndrea 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...
- Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testingRaffaella 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...
- Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 geneFrancesco 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. ..
- Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CGiuseppe 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...
- TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathyCinzia 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....
- Sequence-specific modification of genomic DNA by small DNA fragmentsDieter C Gruenert
Department of Medicine, University of Vermont, Burlington, Vermont, USA
J Clin Invest 112:637-41. 2003....
- Towards the pharmacogenomics of cystic fibrosisFederica 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...