Affiliation: Istituto di Genetica Molecolare
- Xeroderma pigmentosumAlan 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...
- Trichothiodystrophy: from basic mechanisms to clinical implicationsM Stefanini
Istituto di Genetica Molecolare CNR, via Abbiategrasso 207, Pavia, Italy
DNA Repair (Amst) 9:2-10. 2010....
- Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivityS 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...
- Different dynamics in nuclear entry of subunits of the repair/transcription factor TFIIHF 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...
- Genetic analysis of twenty-two patients with Cockayne syndromeM 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...
- 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 severityE 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...
- Different effects of methotrexate on DNA mismatch repair proficient and deficient cellsI 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...