Výsledky vyhledávání - "Chiara, Perfumo"

Dominant-Negative Features of Mutant TP53 in Germline Carriers Have Limited Impact on Cancer Outcomes

Autor: David M. Umbach, Paola Menichini, Michael A. Resnick, Alberto Inga, Paola Monti, Chiara Perfumo, Yari Ciribilli, Debora Russo, Alessandra Bisio, Gilberto Fronza

Publikováno v: Università degli di Trento-IRIS

Germline TP53 mutations result in cancer proneness syndromes known as Li-Fraumeni, Li-Fraumeni-like, and nonsyndromic predisposition with or without family history. To explore genotype/phenotype associations, we previously adopted a functional classi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65f04f136d13aa92f605264ee6ca04de
https://doi.org/10.1158/1541-7786.mcr-10-0496

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MDM2 SNP309 genotype is associated with ferritin and LDH serum levels in children with stage 4 neuroblastoma

Autor: Gilberto Fronza, Riccardo Haupt, Gian Paolo Tonini, Stefano Parodi, Alberto Inga, Raffaella Defferrari, Alberto Garaventa, Chiara Perfumo, Katia Mazzocco

Publikováno v: Pediatric Blood & Cancer. 55:267-272

Background MDM2 SNP309, characterised by a T-to-G substitution in the MDM2 promoter, is associated with higher gene expression compared to wild type and was recently found to be a negative prognostic factor for patients with stage 4 neuroblastoma (NB

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::661b6b9b4bf135fe66a7fcc78346583a
https://doi.org/10.1002/pbc.22477

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MDM2 SNP309 genotype influences survival of metastatic but not of localized neuroblastoma

Autor: Gian Paolo Tonini, R. Defferrari, Riccardo Haupt, Stefano Parodi, Giovanna Bianchi Scarrà, Chiara Perfumo, Alberto Inga, Paola Ghiorzo, Gilberto Fronza, Katia Mazzocco

Publikováno v: Pediatric Blood & Cancer. 53:576-583

Background MDM2 is a major negative regulator of p53 function and is directly regulated by MYCN in neuroblastoma (NB) cells. MDM2 SNP309, a T-to-G substitution in the MDM2 promoter associated with higher gene expression compared to wild-type, may att

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::38abb9c36901fcdd3086fb7eac8092e3
https://doi.org/10.1002/pbc.22132

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The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations

Autor: Marina Grasso, Chiara Perfumo, Paolo Bruzzi, Viviana Gismondi, Elena Gennaro, Loredana Pennese, Maria Teresa Ricci, Liliana Varesco

Publikováno v: European journal of human genetics : EJHG. 22(2)

The identification of women with a high probability of being carriers of pathogenic BRCA mutation is not straightforward and a major improvement would be the availability of markers of mutations that could be directly evaluated in individuals asking

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b5b28953c91b0d54f2e4cb1a8bcacc3
https://pubmed.ncbi.nlm.nih.gov/24065113

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MDM2 SNP309 genotype is associated with ferritin and LDH serum levels in children with stage 4 neuroblastoma

Autor: Stefano, Parodi, Chiara, Perfumo, Alberto, Garaventa, Alberto, Inga, Katia, Mazzocco, Raffaella, Defferrari, Gian Paolo, Tonini, Gilberto, Fronza, Riccardo, Haupt

Publikováno v: Pediatric bloodcancer. 55(2)

MDM2 SNP309, characterised by a T-to-G substitution in the MDM2 promoter, is associated with higher gene expression compared to wild type and was recently found to be a negative prognostic factor for patients with stage 4 neuroblastoma (NB), but not

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f263bcc89bdf2ee25269913c3157b83e
https://pubmed.ncbi.nlm.nih.gov/20582945

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XRCC1 deficiency influences the cytotoxicity and the genomic instability induced by Me-lex, a specific inducer of N3-methyladenine

Autor: Paola Menichini, Laura Ottaggio, Chiara Perfumo, Paola Monti, Prema Iyer, Debora Russo, Alberto Inga, Gilberto Fronza, Barry Gold

Publikováno v: DNA repair. 9(7)

Me-lex is a sequence-specific alkylating agent synthesized to preferentially (>90%) generate N3-methyladenine (3-mA) in the minor groove of double-strand DNA, in A-T rich regions. In this paper we investigated the effect of XRCC1 deficiency in the pr

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https://pubmed.ncbi.nlm.nih.gov/20471330

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MDM2 SNP309 genotype influences survival of metastatic but not of localized neuroblastoma

Autor: Chiara, Perfumo, Stefano, Parodi, Katia, Mazzocco, Raffaella, Defferrari, Alberto, Inga, Giovanna Bianchi, Scarrà, Paola, Ghiorzo, Riccardo, Haupt, Gian Paolo, Tonini, Gilberto, Fronza

MDM2 is a major negative regulator of p53 function and is directly regulated by MYCN in neuroblastoma (NB) cells. MDM2 SNP309, a T-to-G substitution in the MDM2 promoter associated with higher gene expression compared to wild-type, may attenuate the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::21693870b572567d5a9f1d13ca6eb27c
http://hdl.handle.net/11567/266609

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Impact of MDM2 SNP309 genotype on progression and survival of stage 4 neuroblastoma

Autor: Gian Paolo Tonini, Katia Mazzocco, R. Defferrari, Chiara Perfumo, Gilberto Fronza, Stefano Parodi, Alberto Inga, Riccardo Haupt

Publikováno v: European journal of cancer (Oxford, England : 1990). 44(17)

Circumvention of the p53 checkpoint in neuroblastoma (NB) might arise from increased expression of its main negative regulator MDM2 . The SNP309, a T-to-G substitution in the MDM2 promoter, was associated with higher levels of MDM2 mRNA and protein,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cc426e3668b937de467319440afbeab
https://pubmed.ncbi.nlm.nih.gov/18835771

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