I Dianzani

Summary

Country: Italy

Publications

  1. ncbi Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer
    Federica Avondo
    Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases IRCAD, Universita del Piemonte Orientale, Novara, Italy
    BMC Genomics 10:442. 2009
  2. ncbi Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene
    I Dianzani
    Department of Medical Sciences, , Novara, Italy
    J Med Genet 40:e133. 2003
  3. ncbi Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study
    I Dianzani
    Laboratorio di Patologia Genetica, Dipartimento di Scienze Mediche, Universita del Piemonte Orientale, Via Solaroli 17, 28100 Novara, Italy
    Mutat Res 599:124-34. 2006
  4. ncbi XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study
    M Betti
    Laboratory of Genetic Pathology, Department of Medical Sciences, University of Piemonte Orientale, Novara, Italy
    Mutat Res 708:11-20. 2011
  5. ncbi [Analysis of potential genetic risk factors for the development of malignant mesothelioma caused by asbestos exposure]
    I Dianzani
    Dipartimento di Scienze Mediche, Univ. Piemonte Orientale, Novara
    Pathologica 95:298-9. 2003
  6. ncbi Diamond-Blackfan Anaemia: an overview
    I Dianzani
    Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy
    Paediatr Drugs 2:345-55. 2000
  7. ncbi Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseases
    G Bona
    Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) and Department of Medical Sciences, A.Avogadro' University of Eastern Piedmont, Novara, Italy
    Clin Exp Immunol 133:430-7. 2003
  8. ncbi Decreased function of Fas in patients displaying delayed progression of HIV-induced immune deficiency
    F Bottarel
    Department of Medical Science, A Avogadro University of Eastern Piedmont, 28100 Novara, Italy
    Hematol J 2:220-7. 2001
  9. ncbi AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome
    L Sorasio
    Eur J Med Genet 49:520-2. 2006
  10. ncbi Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family
    M F Campagnoli
    Paediatric Department, University of Turin, Turin, Italy
    J Clin Pathol 59:440-2. 2006

Collaborators

  • D Mirabelli
  • C Magnani
  • M Giordano
  • B Gustafsson
  • P Gustavsson
  • M Violin
  • A Brusco
  • Giorgio Radetti
  • N Blau
  • M Gallucci
  • A Ballabio
  • G Borsani
  • Oliviero Olivieri
  • Domenico Girelli
  • U Ramenghi
  • E Garelli
  • M F Campagnoli
  • A Carando
  • M Betti
  • Federica Avondo
  • L Sorasio
  • N Draptchinskaia
  • T N Willig
  • G Bona
  • D Difranco
  • U Dianzani
  • F Bottarel
  • E Ruffini
  • G Matullo
  • A Aspesi
  • M Padoan
  • D Ferrante
  • E Piccolini
  • S Guarrera
  • P G Betta
  • R Guaschino
  • C Casadio
  • F Ardissone
  • R Libener
  • M P Sperandeo
  • Marta Armiraglio
  • Stefano Gustincich
  • Paola Roncaglia
  • Carlotta Castagnoli
  • Emanuela Garelli
  • Maria Francesca Campagnoli
  • Claudio Santoro
  • Ugo Ramenghi
  • Helena Krmac
  • Nicoletta Crescenzio
  • N Mohandas
  • N Dahl
  • G Tchernia
  • S Ball
  • G B Ferrero
  • C Defilippi
  • M Cirillo Silengo
  • G Brunello
  • G Ingrosso
  • M Forni
  • C Martano
  • A Pucci
  • R Lala
  • P Gasparini
  • E Belligni
  • G Weber
  • L Iughetti
  • A Chiocchetti
  • A Biava
  • A Corrias
  • V De Sanctis
  • S Defranco
  • M Indelicato
  • C Mezzatesta
  • D Buonfiglio
  • C Balotta
  • S Bonissoni
  • M R Capobianchi
  • M Bragardo
  • M B Lucia
  • T Bensi
  • R Cauda
  • S Brandalise
  • A Buoninconti
  • M Riboni
  • B Incerti
  • P Strippoli
  • G Sebastio
  • G C Izzi
  • R Riccardi

Detail Information

Publications20

  1. ncbi Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer
    Federica Avondo
    Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases IRCAD, Universita del Piemonte Orientale, Novara, Italy
    BMC Genomics 10:442. 2009
    ..DBA lymphocytes show reduced protein synthesis and fibroblasts display abnormal rRNA processing and impaired proliferation...
  2. ncbi Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene
    I Dianzani
    Department of Medical Sciences, , Novara, Italy
    J Med Genet 40:e133. 2003
  3. ncbi Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study
    I Dianzani
    Laboratorio di Patologia Genetica, Dipartimento di Scienze Mediche, Universita del Piemonte Orientale, Via Solaroli 17, 28100 Novara, Italy
    Mutat Res 599:124-34. 2006
    ..This is the first report of an association between polymorphisms in DNA repair genes and asbestos-associated MM. Our data indicate that genetic factors are involved in MM development...
  4. ncbi XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study
    M Betti
    Laboratory of Genetic Pathology, Department of Medical Sciences, University of Piemonte Orientale, Novara, Italy
    Mutat Res 708:11-20. 2011
    ..02, 95%CI 1.01-4.05; Casale+Turin: OR=2.39, 95%CI 1.29-4.43). The association of MPM with DNA repair genes support the hypothesis that an increased susceptibility to DNA damage may favour asbestos carcinogenicity...
  5. ncbi [Analysis of potential genetic risk factors for the development of malignant mesothelioma caused by asbestos exposure]
    I Dianzani
    Dipartimento di Scienze Mediche, Univ. Piemonte Orientale, Novara
    Pathologica 95:298-9. 2003
  6. ncbi Diamond-Blackfan Anaemia: an overview
    I Dianzani
    Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy
    Paediatr Drugs 2:345-55. 2000
    ..Bone marrow or cord blood transplantation has been performed in some patients. The former approach is burdened with severe complications and high mortality...
  7. ncbi Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseases
    G Bona
    Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) and Department of Medical Sciences, A.Avogadro' University of Eastern Piedmont, Novara, Italy
    Clin Exp Immunol 133:430-7. 2003
    ..These data suggest that heterogeneous inherited defects impairing Fas function favour the development of thyroid autoimmunities...
  8. ncbi Decreased function of Fas in patients displaying delayed progression of HIV-induced immune deficiency
    F Bottarel
    Department of Medical Science, A Avogadro University of Eastern Piedmont, 28100 Novara, Italy
    Hematol J 2:220-7. 2001
    ..This study evaluates the possibility that Fas function defects delay progression of HIV-induced immune deficiency...
  9. ncbi AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome
    L Sorasio
    Eur J Med Genet 49:520-2. 2006
  10. ncbi Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family
    M F Campagnoli
    Paediatric Department, University of Turin, Turin, Italy
    J Clin Pathol 59:440-2. 2006
    ..Autoimmune diseases are present in several members of the family. Although immune disorders have been described in FTC, autoimmunity does not segregate with the GALNT3 mutation in this family...
  11. ncbi Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population
    U Ramenghi
    Department of Paediatrics, University of Torino, Italy
    Blood Cells Mol Dis 26:417-22. 2000
    ....
  12. ncbi Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
    M P Sperandeo
    Department of Pediatrics, Federico II University, Naples
    Am J Hum Genet 66:92-9. 2000
    ..The DNA-based tests are now easily accessible for molecular diagnosis, genetic counseling, and prenatal diagnosis of LPI...
  13. ncbi Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression
    T N Willig
    Life Science Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA
    Blood 94:4294-306. 1999
    ..The lack of a consistent relationship between the nature of the mutations and the clinical phenotype implies that yet unidentified factors modulate the phenotypic expression of the primary genetic defect in families with RPS19 mutations...
  14. ncbi The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
    N Draptchinskaia
    Department of Genetics and Pathology, Uppsala University, Sweden
    Nat Genet 21:169-75. 1999
    ..These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis...
  15. ncbi Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations
    I Dianzani
    Dipartimento di Scienze Pediatriche e dell Adolescenza, Universita degli Studi di Torino, Italy
    Hum Mutat 12:267-73. 1998
    ..This patient's intermediate phenotype is thus due to the mild DHPR mutation Y150C. Correlations between genotypes and phenotypes were also found for the other mutations...
  16. ncbi Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F
    P Gasparini
    IRCCS Ospedale C S S San Giovanni Rotondo, Foggia, Italy
    Hum Mol Genet 2:571-6. 1993
    ..The data obtained by linkage analysis and the study of a family with a double recombinant allowed us to better define the HFE gene location with respect to HLA-class I A and F loci...
  17. ncbi Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency
    I Dianzani
    Istituto di Clinica Pediatrica, Torino, Italy
    J Med Genet 30:465-9. 1993
    ..It occurs in a motif which shows similarities with a region of dihydrofolate reductase (DHFR) and is highly conserved within different animal species...
  18. ncbi Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation
    I Dianzani
    Istituto di Clinica Pediatrica, Universita degli Studi di Torino, Italy
    J Med Genet 30:228-31. 1993
    ..This lesion, IVS X-546, was detected in five of the 34 PKU alleles examined. Our results underline the versatility of the CCM method for scanning a gene for multiple mutations...
  19. ncbi Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity
    P Gasparini
    Servizio di Genetica Medica, IRCCS Ospedale CSS San Giovanni Rotondo, Italy
    Am J Hum Genet 57:781-8. 1995
    ....
  20. ncbi Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation
    I Dianzani
    Istituto di Clinica Pediatrica, Centro di Immunogenetica e Istocompatibilita CNR, Turin, Italy
    Am J Hum Genet 48:631-5. 1991
    ..Our results indicate that CCM analysis of amplified genomic DNA fragments can be successfully used to search for mutations in large genes whose transcripts are not readily available...