Irma Dianzani
e-mail: irma.dianzani AT med.unipmn.it
affiliation: Università del Piemonte Orientale
research area(s): Genetics And Genomics, Experimental Medicine
Course:
Biotechnologies For Human Health
University/Istitution: Università del Piemonte Orientale
University/Istitution: Università del Piemonte Orientale
Education
1982 Degree in Medicine and Surgery at the University of Torino,Italy.
1986 Specialization in Pediatrics at the University of Torino,Italy.
1991 PhD in Biology and Biochemistry at Brunel University, London,UK
Post graduate training and appointments:
2005-so far Full Professor (Professore Ordinario), Facolta' di Scienze MFN. Univ.Piemonte
Orientale , Dipartimento di Scienze Mediche, Novara.
2001-05 Full Professor (Professore Straordinario), Facolta' di Scienze MFN. Università del Piemonte
Orientale, Dipartimento di Scienze Mediche, Novara.
98-2001 Associate Professor, Dipartimento Scienze Mediche,Univ.Piemonte Orientale;
Dipartimento di Scienze Mediche, Novara.
96-98 Dipartimento Genetica, Univ. Torino, Academic researcher.
85-96 Dipartimento Pediatria, Univ.Torino, Academic researcher.
89-90 Murdoch Institute, Melbourne,Australia; fellow.
82-85 Dipartimento Pediatria, Univ Torino, fellow.
1982 Degree in Medicine and Surgery at the University of Torino,Italy.
1986 Specialization in Pediatrics at the University of Torino,Italy.
1991 PhD in Biology and Biochemistry at Brunel University, London,UK
Post graduate training and appointments:
2005-so far Full Professor (Professore Ordinario), Facolta' di Scienze MFN. Univ.Piemonte
Orientale , Dipartimento di Scienze Mediche, Novara.
2001-05 Full Professor (Professore Straordinario), Facolta' di Scienze MFN. Università del Piemonte
Orientale, Dipartimento di Scienze Mediche, Novara.
98-2001 Associate Professor, Dipartimento Scienze Mediche,Univ.Piemonte Orientale;
Dipartimento di Scienze Mediche, Novara.
96-98 Dipartimento Genetica, Univ. Torino, Academic researcher.
85-96 Dipartimento Pediatria, Univ.Torino, Academic researcher.
89-90 Murdoch Institute, Melbourne,Australia; fellow.
82-85 Dipartimento Pediatria, Univ Torino, fellow.
Her research has been focused on the identification of the molecular basis of inherited diseases. In detail: two inborn errors of metabolism characterised by hyperphenylalaninemia (defects of phenylalanine hydroxylase-phenylketonuria-PKU, and dihydropteridine reductase); thalassemias; inherited hemochromatosis; cystinuria; diseases due to defects in Fas/FasL mediated apoptosis; Blackfan-Diamond Anemia; search for genetic risk factors for the development of malignant mesothelioma of the pleura in individuals exposed to asbestos.
Moreover, she has developed new methods for mutation detection in the genome (such as several modifications of Chemical Cleavage of Mismatch).
Her primary research interests involves Diamond-Blackfan Anemia and the search for genetic risk factors of malignant pleural mesothelioma.
She directs the Laboratorio di Patologia Genetica at the Dept of Medical Sciences, in Novara.
She has received the following grants: Telethon 1994, 1997, 2001, 2006; MIUR-PRIN 1999, 2000, 2002, 2004, 2006; FIRB 2001, AIRC 2000, 2001, 2004, 2007; Regione Piemonte Ricerca Sanotaria Finalizzata every year from 2001-2007; CIP 2004; Fondazione Buzzi per la ricerca sul mesotelioma pleurico 2006, 2007; Diamond Blackfan-Anemia Foundation (USA) 2006.
She is a member of the following scientific societies: Società Italiana di Patologia (SIP) 2000-2007, American Society of Human Genetics (ASHG) (since 1990); Società Italiana di Genetica Umana (SIGU) 1996 so far, Accademia di Medicina di Torino since 2007.
She is a fellow of the following Interdisciplinary Research centers:
-Centro Interdisciplinare per la Ricerca sulle Malattie Autoimmuni (IRCAD)
-Centro Scansetti per l"amianto (2001-so far).
She is author of 114 papers published on international refereed journals
Moreover, she has developed new methods for mutation detection in the genome (such as several modifications of Chemical Cleavage of Mismatch).
Her primary research interests involves Diamond-Blackfan Anemia and the search for genetic risk factors of malignant pleural mesothelioma.
She directs the Laboratorio di Patologia Genetica at the Dept of Medical Sciences, in Novara.
She has received the following grants: Telethon 1994, 1997, 2001, 2006; MIUR-PRIN 1999, 2000, 2002, 2004, 2006; FIRB 2001, AIRC 2000, 2001, 2004, 2007; Regione Piemonte Ricerca Sanotaria Finalizzata every year from 2001-2007; CIP 2004; Fondazione Buzzi per la ricerca sul mesotelioma pleurico 2006, 2007; Diamond Blackfan-Anemia Foundation (USA) 2006.
She is a member of the following scientific societies: Società Italiana di Patologia (SIP) 2000-2007, American Society of Human Genetics (ASHG) (since 1990); Società Italiana di Genetica Umana (SIGU) 1996 so far, Accademia di Medicina di Torino since 2007.
She is a fellow of the following Interdisciplinary Research centers:
-Centro Interdisciplinare per la Ricerca sulle Malattie Autoimmuni (IRCAD)
-Centro Scansetti per l"amianto (2001-so far).
She is author of 114 papers published on international refereed journals
1) S.Orrù, A.Aspesi, M.Armiraglio, M.Caterino, F.Loreni, M.Ruoppolo, C.Santoro, I.Dianzani (2007) Analysis of RPS19's Interactome Mol Cell Proteomics 6, 382-93
2) Angelini M, Cannata S, Mercaldo V, Gibello L, Santoro C, Dianzani I, Loreni F (2007)Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. Hum Mol Genet 16, 1720-7
3) Ugolini D, Neri M, Ceppi M, Cesario A, Dianzani I, Filiberti R, Gemignani F, Landi S, Magnani C, Mutti L, Puntoni R, Bonassi S (2008) Genetic susceptibility to malignant mesothelioma and exposure to asbestos: The influence of the familial factor. Mutat Res/ Rev Mutat 658, 162, 171
4) M.F.Campagnoli, U.Ramenghi, M.Armiraglio, P.Quarello, E.Garelli, A.Carando, F.Avondo, E.Pavesi, F.Loreni, I.Dianzani (2008) RPS19 mutations in patients with Diamond-Blackfan Anemia. Hum Mutat 29, 911-20
5) Neri M, Ugolini D, Dianzani I, Gemignani F, Landi S, Cesario A, Magnani C, Mutti L, Puntoni R, Bonassi S (2008) Genetic susceptibility to malignant pleural mesothelioma and other asbestos-related diseases. Mutation Research / Rev Mutat 659, 126-36
6) I.Boria, P.Quarello, F.Avondo, E.Garelli, A.Aspesi, A.Carando, M.F.Campagnoli, I.Dianzani, U.Ramenghi (2008) A New Database For Ribosomal Protein Genes Which Are Mutated In Diamond-Blackfan Anemia. Hum Mutat 29, E263-70
7) P.Quarello, E.Garelli, A.Brusco, A.Carando, P.Pappi, M.Barberis, V.Coletti, M.F.Campagnoli , I.Dianzani, U.Ramenghi (2008) Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency. Haematologica/the Hematology J 93, 1748-50
8) I.Boria, D.Cotella, I.Dianzani, C.Santoro, D.Sblattero (2008). Primer sets for cloning the human repertoire of T-Cell Receptor Variable regions. BMC Immunol 9, 50
9) I.Dianzani, F.Loreni (2008) Diamond-Blackfan Anemia: a ribosomal puzzle. Haematologica 93,1601-4
10) Pigullo S, Pavesi E, Dianzani I, Santamaria G, Svahn J, Risso M, Van Lint MT, Pillon M, Iori AP, Longoni D, Ramenghi U, Lanciotti M, Dufour C (2008) NOLA1 Gene Mutations in Acquired Aplastic Anemia. Pediatr Blood Cancer 52:376-8,.
11) M.Betti, M.Neri, D.Ferrante, S.Landi, A.Biava, F.Gemignani, M.Bertolotti, D.Mirabelli, M.Padoan, D.Ugolini, M.Botta, S.Bonassi, C.Magnani, I.Dianzani (2009). Pooled analysis of NAT2 genotypes as risk factors for asbestos-related malignant mesothelioma. Int J Hyg Envir Heal, 212, 322-329
12) Pavesi E, Avondo F, Aspesi A, Quarello P, Rocci A, Vimercati C, Pigullo S, Dufour C, Ramenghi U, Dianzani I (2009) Analysis of telomeres in peripheral blood cells from patients with bone marrow failure. Pediatr Blood Cancer. 53,411-6.
13) Ferretti M, Gattorno M, Chiocchetti A, Mesturini R, Orilieri E, Bensi T, Sormani MP, Cappellano G, Cerutti E, Nicola S, Biava A, Bardelli C, Federici S, Ceccherini I, Baldi M, Santoro C, Dianzani I, Martini A, Dianzani U (2009) The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever. Arthritis Rheum. 60:3476-84.
14) Avondo F, Roncaglia P, Crescenzio N, Krmac H, Garelli E, Armiraglio M, Castagnoli C, Campagnoli MF, Ramenghi U, Gustincich S, Santoro C, Dianzani I (2009) Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer. BMC Genomics, 10:442
15) Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D,
Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U (2010).
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations. Haematologica 95,206-13
16) A.Aspesi, S.Vallero, A.Rocci, C.Dufour, U.Ramenghi, I.Dianzani (2010) Compound heterozygosity for two new TERT mutations in a patient with Aplastic Anemia. Pediatric Blood & Cancer. 55,550-3
17) V.Iadevaia, S.Caldarola, L.Biondini, A.Gismondi, S.Karlsson, I.Dianzani, F.Loreni. PIM1 kinase is destabilized by ribosomal stress causing inhibition of cell cycle progression (2010). Oncogene, 29, 5490-9
18) I.Boria, E.Garelli, H.Gazda, A.Aspesi, P.Quarello, E.Pavesi, D.Ferrante, J.J.Meerpohl, M.Kartal, L.Da Costa, A.Proust, T.Leblanc, M.Simansour, N.Dahl, A-S. Fröjmark, D.Pospisilova, R.Cmejla, A.H.Beggs, M.R.Sheen, M.Landowski, C.Buros, C.Clinton, L.Dobson, A.Vlachos, E.Atsidaftos, J.M.Lipton, S.R.Ellis, U.Ramenghi, I.Dianzani (2010) The Ribosomal Basis Of Diamond-Blackfan Anemia: Mutation And Database Update. Hum Mutat 31,1269-79
19) M. Betti, D. Ferrante, M. Padoan, S. Guarrera, M. Giordano, A. Aspesi, D. Mirabelli, C. Casadio, P.G. Betta, R. Libener, R. Guaschino, G. Matullo, E. Piccolini, C. Magnani, I. Dianzani (2011). XRCC1 and ERCC1 variants modify malignant mesothelioma risk: A case-control study. Mutat Res 708, 11-20
2) Angelini M, Cannata S, Mercaldo V, Gibello L, Santoro C, Dianzani I, Loreni F (2007)Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. Hum Mol Genet 16, 1720-7
3) Ugolini D, Neri M, Ceppi M, Cesario A, Dianzani I, Filiberti R, Gemignani F, Landi S, Magnani C, Mutti L, Puntoni R, Bonassi S (2008) Genetic susceptibility to malignant mesothelioma and exposure to asbestos: The influence of the familial factor. Mutat Res/ Rev Mutat 658, 162, 171
4) M.F.Campagnoli, U.Ramenghi, M.Armiraglio, P.Quarello, E.Garelli, A.Carando, F.Avondo, E.Pavesi, F.Loreni, I.Dianzani (2008) RPS19 mutations in patients with Diamond-Blackfan Anemia. Hum Mutat 29, 911-20
5) Neri M, Ugolini D, Dianzani I, Gemignani F, Landi S, Cesario A, Magnani C, Mutti L, Puntoni R, Bonassi S (2008) Genetic susceptibility to malignant pleural mesothelioma and other asbestos-related diseases. Mutation Research / Rev Mutat 659, 126-36
6) I.Boria, P.Quarello, F.Avondo, E.Garelli, A.Aspesi, A.Carando, M.F.Campagnoli, I.Dianzani, U.Ramenghi (2008) A New Database For Ribosomal Protein Genes Which Are Mutated In Diamond-Blackfan Anemia. Hum Mutat 29, E263-70
7) P.Quarello, E.Garelli, A.Brusco, A.Carando, P.Pappi, M.Barberis, V.Coletti, M.F.Campagnoli , I.Dianzani, U.Ramenghi (2008) Multiplex Ligation-dependent Probe Amplification (MLPA) enhances molecular diagnosis of Diamond Blackfan Anemia due to RPS19 deficiency. Haematologica/the Hematology J 93, 1748-50
8) I.Boria, D.Cotella, I.Dianzani, C.Santoro, D.Sblattero (2008). Primer sets for cloning the human repertoire of T-Cell Receptor Variable regions. BMC Immunol 9, 50
9) I.Dianzani, F.Loreni (2008) Diamond-Blackfan Anemia: a ribosomal puzzle. Haematologica 93,1601-4
10) Pigullo S, Pavesi E, Dianzani I, Santamaria G, Svahn J, Risso M, Van Lint MT, Pillon M, Iori AP, Longoni D, Ramenghi U, Lanciotti M, Dufour C (2008) NOLA1 Gene Mutations in Acquired Aplastic Anemia. Pediatr Blood Cancer 52:376-8,.
11) M.Betti, M.Neri, D.Ferrante, S.Landi, A.Biava, F.Gemignani, M.Bertolotti, D.Mirabelli, M.Padoan, D.Ugolini, M.Botta, S.Bonassi, C.Magnani, I.Dianzani (2009). Pooled analysis of NAT2 genotypes as risk factors for asbestos-related malignant mesothelioma. Int J Hyg Envir Heal, 212, 322-329
12) Pavesi E, Avondo F, Aspesi A, Quarello P, Rocci A, Vimercati C, Pigullo S, Dufour C, Ramenghi U, Dianzani I (2009) Analysis of telomeres in peripheral blood cells from patients with bone marrow failure. Pediatr Blood Cancer. 53,411-6.
13) Ferretti M, Gattorno M, Chiocchetti A, Mesturini R, Orilieri E, Bensi T, Sormani MP, Cappellano G, Cerutti E, Nicola S, Biava A, Bardelli C, Federici S, Ceccherini I, Baldi M, Santoro C, Dianzani I, Martini A, Dianzani U (2009) The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever. Arthritis Rheum. 60:3476-84.
14) Avondo F, Roncaglia P, Crescenzio N, Krmac H, Garelli E, Armiraglio M, Castagnoli C, Campagnoli MF, Ramenghi U, Gustincich S, Santoro C, Dianzani I (2009) Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer. BMC Genomics, 10:442
15) Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D,
Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U (2010).
Diamond-Blackfan anemia: genotype-phenotype correlation in Italian patients with RPL5 and RPL11 mutations. Haematologica 95,206-13
16) A.Aspesi, S.Vallero, A.Rocci, C.Dufour, U.Ramenghi, I.Dianzani (2010) Compound heterozygosity for two new TERT mutations in a patient with Aplastic Anemia. Pediatric Blood & Cancer. 55,550-3
17) V.Iadevaia, S.Caldarola, L.Biondini, A.Gismondi, S.Karlsson, I.Dianzani, F.Loreni. PIM1 kinase is destabilized by ribosomal stress causing inhibition of cell cycle progression (2010). Oncogene, 29, 5490-9
18) I.Boria, E.Garelli, H.Gazda, A.Aspesi, P.Quarello, E.Pavesi, D.Ferrante, J.J.Meerpohl, M.Kartal, L.Da Costa, A.Proust, T.Leblanc, M.Simansour, N.Dahl, A-S. Fröjmark, D.Pospisilova, R.Cmejla, A.H.Beggs, M.R.Sheen, M.Landowski, C.Buros, C.Clinton, L.Dobson, A.Vlachos, E.Atsidaftos, J.M.Lipton, S.R.Ellis, U.Ramenghi, I.Dianzani (2010) The Ribosomal Basis Of Diamond-Blackfan Anemia: Mutation And Database Update. Hum Mutat 31,1269-79
19) M. Betti, D. Ferrante, M. Padoan, S. Guarrera, M. Giordano, A. Aspesi, D. Mirabelli, C. Casadio, P.G. Betta, R. Libener, R. Guaschino, G. Matullo, E. Piccolini, C. Magnani, I. Dianzani (2011). XRCC1 and ERCC1 variants modify malignant mesothelioma risk: A case-control study. Mutat Res 708, 11-20
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