Research Topics
Species | Antonio MusioSummaryAffiliation: Institute of Biomedical Technologies Country: Italy Publications
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Detail Information
Publications
Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblastsAntonio Musio
Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Milan, Italy
Cancer Res 63:2855-63. 2003..Our data suggest that chromosomal instability and aneuploidy are early changes that precede tumorigenicity in the multistep process leading to neoplastic transformation...
The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancerLinda Mannini
Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Pisa, Italy
Hum Mutat 31:623-30. 2010..Cohesin mutations have also been identified in colorectal cancer. Here, we will discuss the human disorders caused by alterations of cohesin function, with emphasis on the emerging role of cohesin as a genome stability caretaker...- Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genesAntonio Musio
Istituto di Tecnologie Biomediche, Dipartimento Genoma Umano, C N R, Via Fratelli Cervi, 93, I 20090 Segrate, MI, Italy
Gene 331:33-40. 2004..We concluded that INCENP, ZWINT-1, ZW10 gene inhibition results in cellular phenocopies of Roberts syndrome. Taken together, these findings support a possible role of these genes in the pathogenesis of Roberts syndrome... - SMC1 involvement in fragile site expressionAntonio Musio
Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Milan, Italy
Hum Mol Genet 14:525-33. 2005..We propose that in vivo, following an extreme replication block, rare cells could escape checkpoint mechanisms and enter mitosis with a defect in genome assembly, eventually leading to neoplastic transformation... - X-linked Cornelia de Lange syndrome owing to SMC1L1 mutationsAntonio Musio
Institute of Biomedical Technologies, Human Genome Department, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Italy
Nat Genet 38:528-30. 2006..We report here that mutations in SMC1L1 (also known as SMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case... - Claspin inhibition leads to fragile site expressionMaria Luisa Focarelli
Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Segrate MI, Italy
Genes Chromosomes Cancer 48:1083-90. 2009..Our observations provide the basis for a better understanding of cell cycle checkpoints deregulation in cancer... - SMC1 inhibition results in FRA3B expression but has no effect on its delayed replicationMaria Luisa Focarelli
Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Dipartimento Genoma Umano, Via Fratelli Cervi, 93, 20090 Segrate, Milan, Italy
Mutat Res 595:23-8. 2006.... 
Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in uteroAnnalisa Frattini
Human Genome Department, Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, 20090 Segrate, Milan, Italy
Proc Natl Acad Sci U S A 102:14629-34. 2005..The presence of defective cells is not a barrier to the rescue of the phenotype by donor HSC...- Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human diseaseLinda Mannini
Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Pisa, Italy
Hum Mutat 31:5-10. 2010..In this review, we summarize the current knowledge of SMC1A mutations... - SMC1A codon 496 mutations affect the cellular response to genotoxic treatmentsLinda Mannini
Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy
Am J Med Genet A 158:224-8. 2012..1487G>A mutation in SMC1A which predicts p.Arg496His. We show that this mutation leads to an impairment of the cellular response to genotoxic treatments... - Damaging-agent sensitivity of Artemis-deficient cell linesAntonio Musio
Istituto di Tecnologie Biomediche, CNR, Segrate, Italy
Eur J Immunol 35:1250-6. 2005..This data supports the hypothesis that, in addition to playing a role in hairpin opening during the V(D)J recombination process, Artemis is involved in the repair of a subset of DNA damage whose exact nature is still undefined... - Heterogeneous gene distribution reflects human genome complexity as detected at the cytogenetic levelAntonio Musio
Istituto di Tecnologie Biomediche, C N R, Via Fratelli Cervi, 93, 20090, MI, Segrate, Italy
Cancer Genet Cytogenet 134:168-71. 2002..The finding of heterogeneity in gene content suggests that chromosome banding is not only due to differences in gene content... - Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardationMatthew A Deardorff
Division of Human and Molecular Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
Am J Hum Genet 80:485-94. 2007.... - Physiologic oxygen enhances human embryonic stem cell clonal recovery and reduces chromosomal abnormalitiesNicholas R Forsyth
Gene Function and Development, Roslin Institute, Midlothian, Scotland, United Kingdom
Cloning Stem Cells 8:16-23. 2006..These results clearly demonstrate that physiologic oxygen culture conditions are indispensable for robust hES clone recovery and may enhance the isolation of novel hES lines and transgenic clones...