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RESPONSABILE DELLA U. O. |
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Cognome e Nome |
Giordano Mara |
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Qualifica |
Associated professor
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Facoltà |
Medicine |
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Dipartimento |
Medical Sciences |
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Settore Scientifico Disciplinare |
Med/03 |
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PERSONALE STRUTTURATO |
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Cognome e Nome |
BOZZO Chiarella
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Qualifica |
Assistant Professor of Applied Biology |
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Dipartimento |
Clinical and Experimental Medicine |
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Ente di appartenenza |
University of Eastern Piedmont
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Cognome e Nome |
D’ALFONSO Sandra
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Qualifica |
Associated Professor of Human Genetics
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Dipartimento |
Medical Sciences |
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Ente di appartenenza |
University of Eastern Piedmont
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PERSONALE NON STRUTTURATO |
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Cognome e Nome |
BARIZZONE Nadia |
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Qualifica |
PhD fellow
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Dipartimento |
Medical Sciences |
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Ente di appartenenza |
University of Eastern Piedmont
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Cognome e Nome |
CORRADO Lucia |
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Qualifica |
Post-doc fellow
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Dipartimento |
Medical Sciences |
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Ente di appartenenza |
University of Eastern Piedmont
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Cognome e Nome |
GODI Michela
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Qualifica |
Pst-doc fellow |
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Dipartimento |
Medical Sciences |
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Ente di appartenenza |
University of Eastern Piedmont
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Cognome e Nome |
MOMIGLIANO Patricia
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Qualifica |
Professor of Human Genetics
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Dipartimento |
Medical Sciences |
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Ente di appartenenza |
University of Eastern Piedmont
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LINEE DI RICERCA |
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1) Search for genetic factors involved in susceptibility to autoimmune diseases ( SLE, Multiple Sclerosis, Celiac Disease) This is performed by association studies with polymorphisms (SNPs or microsatellites) in candidate genes or candidate genomic regions utilising high throughput genotyping techniques.
2) Search for genetic factors involved in susceptibility to Amyotrophic Lateral Sclerosis (ALS)
ALS patients are first tested for the presence of mutations in the well known susceptibility gene SOD1. Associated sequence variations are then searched in a series of candidate genes. Angiogenin, peripherin and VEGF are being tested to date.
3) Search for DNA sequence variations responsible for Growth Hormone Deficiency (GHD).
Patients with isolated GH (IGHD) or compound pituitary hormone deficiency (CPHD) are analysed for mutations in previously reported (GH1, GHRHR, HESX1, PIT1, PROP1, LHX4) or in new candidate genes. A functional analysis is performed for all the detected mutations utilising a rat pituitary cell line.
4) Role of integrins in -amyloid neurotoxicity : relevance for Alzheimer’s disease and for the protective effects of estrogen.
The possible relationship between amyloid ß-peptide ( ßAP) induced apoptosis and integrin expession is analysed in two neuroblastoma cell lines, SK-N-BE and SK-N-SY5Y, previously differentiated by chronic exposure to retinoc acid. The neuroprotective role of 17ß-estradiol and of other estrogen molecules (17a-estradiol, estriol, estrone) and the possible changes in basal or ßAP modified integrin expression are also evaluated. Finally, the possible involvement of caspase 8 and/or other upstream caspases is studied, in order to clarify the sequence of events leading to the protective action of estrogen in neuronal cells |
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TECNOLOGIE IN POSSESSO DELL'U. O. |
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- DNA genotyping by various approaches
- Expression studies in “in vitro” transfected cells
- Evaluation of apoptosis by confocal microscopy system and by FACS analysis:
- Cell adhesion, migration and invasion assays.
- Neuronal cell culture and differentiation.
- Analysis of protein expression and activation.
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STRUMENTAZIONE |
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Denominazione
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Struttura ove la strumentazione è allocata
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Responsabile della strumentazione
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16 capillary DNA sequencer ABI Prism 3100
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Dept. Medical Sciences
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Prof. Giordano
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Confocal microscope
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Dept. Medical Sciences
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Dott. Bozzo
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Fluorescent cell sorter
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Dept. Medical Sciences
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Prof. Dianzani
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Taqmann ABI Prism 7000
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Dept. Medical Sciences
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Prof. Graziani
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DHPLC Wave Transgenomic
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Dept. Medical Sciences
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Prof. Giordano
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PUBBLICAZIONI |
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Corrado L, Carlomagno Y, Falasco L, Mellone S, Godi M, Cova E, Cereda C, Testa L, Mazzini L, D'Alfonso S. A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient. Neurobiol Aging. 2010 [Epub ahead of print] PubMed PMID: 20363051.
2. D'Alfonso S, Barizzone N, Giordano M, Chiocchetti A, Magnani C, Castelli L, Indelicato M, Giacopelli F, Marchini M, Scorza R, Danieli MG, Cappelli M, Migliaresi S, Bigliardo B, Sabbadini MG, Baldissera E, Galeazzi M, Sebastiani GD, Minisola G, Ravazzolo R, Dianzani U, Momigliano-Richiardi P. Two single-nucleotide polymorphisms in the 5' and 3' ends of the osteopontin gene contribute to susceptibility to systemic lupus erythematosus. Arthritis Rheum. 2005 Feb;52(2):539-47.
3)M. Godi, S. Mellone, A. Petri, T. Arrigo, C. Bardelli, L. Corrado, S. Bellone, F. Prodam, P. Momigliano-Richiardi, G. Bona and M. Giordano. A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency. J Clinical Endocrinology and Metabolism, 2009 94: 3939-47.
4)M Giordano, M Godi , S Mellone , A Petri , D Vivenza , L Tiradani , Y Carlomagno , D Ferrante , T Arrigo , G Corneli, S Bellone, F Giacopelli , C Santoro , G Bona , P Momigliano-Richiardi. A functional common polymorphism in the Vitamin D-Responsive Element of the GH1 promoter contributes to Isolated Growth Hormone Deficiency. J Clinical Endocrinology and Metabolism, 2008 93: 1005-1012
5)D. Vivenza, L. Guazzarotti, M. Godi, D. Frasca, B. di Natale, G. Bona, P. Momigliano-Richiardi, M. Giordano. A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomic dominant isolated growth hormone deficiency (IGHD-II). J Clinical Endocrinology and Metabolism, 2006 91:980-6.
6) Ballerini C, Guerini FR, Rombola G, Rosati E, Massacesi L, Ferrante P, Caputo D, Talamanca LF, Naldi P, Liguori M, Alizadeh M, Momigliano-Richiardi P, D'Alfonso S. HLA-multiple sclerosis association in continental Italy and correlation with disease prevalence in Europe. J Neuroimmunol. 2004 May;150(1-2):178-85
7. Giordano M, Mellai M, Hoogendoorn B, Momigliano-Richiardi P. Determination of SNP allele frequencies in pooled DNAs by primer extension genotyping and denaturing high-performance liquid chromatography. J Biochem Biophys Methods. 2001 Jan 30;47(1-2):101-10.
8. Bozzo C, Lombardi G, Santoro C, Canonico PL. Involvement of beta(1) integrin in betaAP-induced apoptosis in human neuroblastoma cells. Mol Cell Neurosci. 2004 Jan;25(1):1-8.
9 Sabbatini M, Bozzo C, Castellucci M, Cannas M. Morphometric quantification of apoptotic stages in cell culture. Cells Tissues Organs. 2004;178(3):139-45.
10. Secco P, Ferretti M, Gioia D, Cesaro P, Bozzo C, Marks JD, Santoro C. Characterization of a single-chain intrabody directed against the human receptor tyrosine kinase Ron. J Immunol Methods. 2004 Feb 1;285(1):99-109.
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DOTTORATI DI RICERCA |
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| Componente U.O. |
Dottorato di Ricerca |
Coordinatore |
Sede |
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Mara Giordano
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Medicina Molecolare
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Prof. Umberto Dianzani
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Dep. Medical Sciences, Novara
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Sandra D’Alfonso
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Biotecnologie per l’uomo
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Prof. Claudio Santoro
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Dep. Medical Sciences, Novara
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Chiarella Bozzo
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Medicina Clinica e Sperimentale
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Prof. Marisa Gariglio
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Dep. Clinical and ExperimentalMedicine, Novara
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CONGRESSI C.I.B. |
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| Congressi |
Partecipazione |
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CNB4
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CNB5
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CNB6
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CNB7
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CNB8
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| CNB10 |
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