List of works - Antonio Musio

A role for Separase in telomere protection.

scientific article published on 18 January 2016

AKTIP/Ft1, a New Shelterin-Interacting Factor Required for Telomere Maintenance

scientific article published on 25 June 2015

Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo

scientific article published on 01 September 2018

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

scientific article published on 20 November 2013

Chromosome Missegregation in Single Human Oocytes Is Related to the Age and Gene Expression Profile

scientific article published on 12 March 2020

Chromosomes, genes, and cancer breakpoints.

scientific article published in December 2002

Claspin as a biomarker of human papillomavirus-related high grade lesions of uterine cervix

scientific article

Claspin inhibition leads to fragile site expression.

scientific article published in December 2009

Clinical utility gene card for: Cornelia de Lange syndrome

scientific article

Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.

scientific article published on 21 April 2015

Cohesin biology and the cohesinopathies: Abstracts from the Second Biennial Conference, Pontignano, Italy, 2009.

scientific article published in July 2010

Cohesin mutations are synthetic lethal with stimulation of WNT signaling

scientific article published on 07 December 2020

Common fragile sites on human chromosomes represent transcriptionally active regions: evidence from camptothecin

scientific article published on 01 April 1998

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.

scientific article published on 12 February 2017

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

scientific article

Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018

scientific article published on 15 March 2019

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

scientific article published on 08 November 2019

Early senescence in heterozygous ABCA1 mutation skin fibroblasts: a gene dosage effect beyond HDL deficiency?

scientific article published on 26 March 2014

Enhanced expression of common fragile site with occupational exposure to pesticides

scientific article published on 01 July 1995

Establishment and characterization of new mammary adenocarcinoma cell lines derived from double transgenic mice expressing GFP and neu oncogene.

scientific article published on December 2006

Genome stability: What we have learned from cohesinopathies.

scientific article published on 19 April 2016

Heterogeneous gene distribution reflects human genome complexity as detected at the cytogenetic level.

scientific article

Longitudinal patterns similar to G-banding in untreated human chromosomes: evidence from atomic force microscopy

scientific article published on 01 June 1994

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

scientific article

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.

scientific article published on 19 November 2015

Mutant cohesin drives chromosomal instability in early colorectal adenomas.

scientific article published on 30 July 2014

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

scientific article published on 16 September 2013

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

scientific article

No statistical association between fragile sites and constitutional chromosome breakpoints

scientific article published on 01 November 1995

Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development

scientific article published on 01 March 2019

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome

scientific article published on 31 May 2020

Physiologic oxygen enhances human embryonic stem cell clonal recovery and reduces chromosomal abnormalities.

scientific article published on January 2006

Proliferation of Multiple Cell Types in the Skeletal Muscle Tissue Elicited by Acute p21 Suppression

scientific article published on 11 February 2015

Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

scientific article

Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes.

scientific article

SMC1 involvement in fragile site expression.

scientific article

SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins.

scientific article published on 17 December 2015

Scanning force images through the 'Milliscope'--a probe microscope with very wide scan range.

scientific article

Separase prevents genomic instability by controlling replication fork speed

scientific article published on 20 November 2017

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

scientific article published on 26 January 2014

Specific chromosomal aberrations correlated to transformation in Chinese hamster cells.

scientific article published on August 1992

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease

scientific article

Spontaneous and aphidicolin-sensitive fragile site 3cen co-localizes with the (TTAGGG)n telomeric sequence in Chinese hamster cells.

scientific article

The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.

scientific article published on June 2010

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

scientific article published on 9 April 2006

p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway

scientific article published on 07 November 2019

List of works by Antonio Musio

A role for Separase in telomere protection.

AKTIP/Ft1, a New Shelterin-Interacting Factor Required for Telomere Maintenance

Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

Chromosome Missegregation in Single Human Oocytes Is Related to the Age and Gene Expression Profile

Chromosomes, genes, and cancer breakpoints.

Claspin as a biomarker of human papillomavirus-related high grade lesions of uterine cervix

Claspin inhibition leads to fragile site expression.

Clinical utility gene card for: Cornelia de Lange syndrome

Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.

Cohesin biology and the cohesinopathies: Abstracts from the Second Biennial Conference, Pontignano, Italy, 2009.

Cohesin mutations are synthetic lethal with stimulation of WNT signaling

Common fragile sites on human chromosomes represent transcriptionally active regions: evidence from camptothecin

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

Early senescence in heterozygous ABCA1 mutation skin fibroblasts: a gene dosage effect beyond HDL deficiency?

Enhanced expression of common fragile site with occupational exposure to pesticides

Establishment and characterization of new mammary adenocarcinoma cell lines derived from double transgenic mice expressing GFP and neu oncogene.

Genome stability: What we have learned from cohesinopathies.

Heterogeneous gene distribution reflects human genome complexity as detected at the cytogenetic level.

Longitudinal patterns similar to G-banding in untreated human chromosomes: evidence from atomic force microscopy

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.

Mutant cohesin drives chromosomal instability in early colorectal adenomas.

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

No statistical association between fragile sites and constitutional chromosome breakpoints

Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome

Physiologic oxygen enhances human embryonic stem cell clonal recovery and reduces chromosomal abnormalities.

Proliferation of Multiple Cell Types in the Skeletal Muscle Tissue Elicited by Acute p21 Suppression

Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes.

SMC1 involvement in fragile site expression.

SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins.

Scanning force images through the 'Milliscope'--a probe microscope with very wide scan range.

Separase prevents genomic instability by controlling replication fork speed

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

Specific chromosomal aberrations correlated to transformation in Chinese hamster cells.

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease

Spontaneous and aphidicolin-sensitive fragile site 3cen co-localizes with the (TTAGGG)n telomeric sequence in Chinese hamster cells.

The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway