M Stefanini

Summary

Affiliation: Istituto di Genetica Molecolare
Country: Italy

Publications

  1. pmc Xeroderma pigmentosum
    Alan R Lehmann
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, UK
    Orphanet J Rare Dis 6:70. 2011
  2. doi request reprint Trichothiodystrophy: from basic mechanisms to clinical implications
    M Stefanini
    Istituto di Genetica Molecolare CNR, via Abbiategrasso 207, Pavia, Italy
    DNA Repair (Amst) 9:2-10. 2010
  3. ncbi request reprint Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity
    S Colella
    Istituto di Genetica Biochimica ed Evoluzionistica CNR, via Abbiategrasso 207, 27100 Pavia, Italy
    Hum Mol Genet 8:935-41. 1999
  4. pmc Different dynamics in nuclear entry of subunits of the repair/transcription factor TFIIH
    F Santagati
    Istituto di Genetica Biochimica ed Evoluzionistica del CNR, via Abbiategrasso 207, 27100 Pavia, Italy
    Nucleic Acids Res 29:1574-81. 2001
  5. ncbi request reprint Genetic analysis of twenty-two patients with Cockayne syndrome
    M Stefanini
    Istituto di Genetica Biochimica ed Evoluzionistica, Consiglio Nazionale delle Ricerche, Pavia, Italy
    Hum Genet 97:418-23. 1996
  6. pmc Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity
    E Botta
    Istituto di Genetica Biochimica ed Evoluzionistica CNR, Pavia, Italy
    Am J Hum Genet 63:1036-48. 1998
  7. ncbi request reprint Different effects of methotrexate on DNA mismatch repair proficient and deficient cells
    I Frouin
    Istituto di Genetica Biochimica ed Evoluzionistica del C.N.R, via Abbiategrasso 207, I-27100, Pavia, Italy
    Eur J Cancer 37:1173-80. 2001

Collaborators

  • A R Lehmann
  • L Rossi
  • E Botta
  • I Frouin
  • F Santagati
  • S Colella
  • T Nardo
  • C Negri
  • A M Pedrini
  • A I Scovassi
  • E Prosperi
  • M Denegri
  • F Riva
  • M Donzelli
  • C Borrone
  • R Ricci
  • G Ruffa
  • D Mallery
  • S Marinoni
  • B C Broughton

Detail Information

Publications7

  1. pmc Xeroderma pigmentosum
    Alan R Lehmann
    Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, UK
    Orphanet J Rare Dis 6:70. 2011
    ..In the absence of neurological problems and with lifetime protection against sunlight, the prognosis is good. In patients with neurological problems, these are progressive, leading to disabilities and a shortened lifespan...
  2. doi request reprint Trichothiodystrophy: from basic mechanisms to clinical implications
    M Stefanini
    Istituto di Genetica Molecolare CNR, via Abbiategrasso 207, Pavia, Italy
    DNA Repair (Amst) 9:2-10. 2010
    ....
  3. ncbi request reprint Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity
    S Colella
    Istituto di Genetica Biochimica ed Evoluzionistica CNR, via Abbiategrasso 207, 27100 Pavia, Italy
    Hum Mol Genet 8:935-41. 1999
    ..Our investigations provide data supporting the notion that other factors, besides the site of the mutation, influence the type and severity of the CS clinical features...
  4. pmc Different dynamics in nuclear entry of subunits of the repair/transcription factor TFIIH
    F Santagati
    Istituto di Genetica Biochimica ed Evoluzionistica del CNR, via Abbiategrasso 207, 27100 Pavia, Italy
    Nucleic Acids Res 29:1574-81. 2001
    ..These findings suggest that the nuclear entry of XPD depends on its complexation with other proteins in the cytoplasm, possibly other components of the TFIIH complex...
  5. ncbi request reprint Genetic analysis of twenty-two patients with Cockayne syndrome
    M Stefanini
    Istituto di Genetica Biochimica ed Evoluzionistica, Consiglio Nazionale delle Ricerche, Pavia, Italy
    Hum Genet 97:418-23. 1996
    ..Our analysis will assist the identification of mutations in the recently cloned CSA and CSB genes and the study of structure-function relationships...
  6. pmc Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity
    E Botta
    Istituto di Genetica Biochimica ed Evoluzionistica CNR, Pavia, Italy
    Am J Hum Genet 63:1036-48. 1998
    ..The most severe clinical features were found in patients who appear to be functionally hemizygous for the mutated allele...
  7. ncbi request reprint Different effects of methotrexate on DNA mismatch repair proficient and deficient cells
    I Frouin
    Istituto di Genetica Biochimica ed Evoluzionistica del C.N.R, via Abbiategrasso 207, I-27100, Pavia, Italy
    Eur J Cancer 37:1173-80. 2001
    ..Remarkably, cell viability was lower and the apoptotic process was triggered more efficiently in the MMR-competent cells...