Antonio Musio

Summary

Affiliation: Institute of Biomedical Technologies
Country: Italy

Publications

  1. ncbi request reprint Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts
    Antonio Musio
    Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Milan, Italy
    Cancer Res 63:2855-63. 2003
  2. ncbi request reprint The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer
    Linda Mannini
    Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Pisa, Italy
    Hum Mutat 31:623-30. 2010
  3. pmc Claspin as a biomarker of human papillomavirus-related high grade lesions of uterine cervix
    Maria Benevolo
    Pathology Department, Regina Elena Cancer Institute, Via Elio Chianesi 53, 00144, Rome, Italy
    J Transl Med 10:132. 2012
  4. ncbi request reprint X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
    Antonio 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
  5. ncbi request reprint Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes
    Antonio 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
  6. ncbi request reprint SMC1 involvement in fragile site expression
    Antonio Musio
    Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Milan, Italy
    Hum Mol Genet 14:525-33. 2005
  7. ncbi request reprint SMC1 inhibition results in FRA3B expression but has no effect on its delayed replication
    Maria 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
  8. ncbi request reprint Claspin inhibition leads to fragile site expression
    Maria Luisa Focarelli
    Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Segrate MI, Italy
    Genes Chromosomes Cancer 48:1083-90. 2009
  9. pmc Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome
    Linda Mannini
    Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy
    Hum Mutat 34:1589-96. 2013
  10. doi request reprint SMC1A codon 496 mutations affect the cellular response to genotoxic treatments
    Linda Mannini
    Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy
    Am J Med Genet A 158:224-8. 2012

Collaborators

Detail Information

Publications16

  1. ncbi request reprint Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts
    Antonio 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...
  2. ncbi request reprint The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer
    Linda 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...
  3. pmc Claspin as a biomarker of human papillomavirus-related high grade lesions of uterine cervix
    Maria Benevolo
    Pathology Department, Regina Elena Cancer Institute, Via Elio Chianesi 53, 00144, Rome, Italy
    J Transl Med 10:132. 2012
    ..Furthermore, high levels of claspin have been found in cervical cancer cell lines. Nevertheless, no data are available regarding claspin expression in cervical tissues...
  4. ncbi request reprint X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
    Antonio 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...
  5. ncbi request reprint Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes
    Antonio 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...
  6. ncbi request reprint SMC1 involvement in fragile site expression
    Antonio 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...
  7. ncbi request reprint SMC1 inhibition results in FRA3B expression but has no effect on its delayed replication
    Maria 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
    ....
  8. ncbi request reprint Claspin inhibition leads to fragile site expression
    Maria 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...
  9. pmc Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome
    Linda Mannini
    Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy
    Hum Mutat 34:1589-96. 2013
    ..Phenotypic variability is seen both intra- and intergenically. This article reviews the spectrum of CdLS mutations with a particular emphasis on their correlation to the clinical phenotype. ..
  10. doi request reprint SMC1A codon 496 mutations affect the cellular response to genotoxic treatments
    Linda 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...
  11. pmc Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero
    Annalisa 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...
  12. pmc Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease
    Linda 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...
  13. ncbi request reprint Damaging-agent sensitivity of Artemis-deficient cell lines
    Antonio 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...
  14. ncbi request reprint Heterogeneous gene distribution reflects human genome complexity as detected at the cytogenetic level
    Antonio 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...
  15. pmc Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation
    Matthew 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
    ....
  16. ncbi request reprint Physiologic oxygen enhances human embryonic stem cell clonal recovery and reduces chromosomal abnormalities
    Nicholas 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...