about
Scanning force images through the 'Milliscope'--a probe microscope with very wide scan range.Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes.Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.Proliferation of Multiple Cell Types in the Skeletal Muscle Tissue Elicited by Acute p21 Suppression.AKTIP/Ft1, a New Shelterin-Interacting Factor Required for Telomere MaintenanceClinical utility gene card for: Cornelia de Lange syndromeClaspin as a biomarker of human papillomavirus-related high grade lesions of uterine cervix.Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.A role for Separase in telomere protection.Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNAMutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.The expanding universe of cohesin functions: a new genome stability caretaker involved in human disease and cancer.SMC1 involvement in fragile site expression.Genome stability: What we have learned from cohesinopathies.Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.Early senescence in heterozygous ABCA1 mutation skin fibroblasts: a gene dosage effect beyond HDL deficiency?SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins.Establishment and characterization of new mammary adenocarcinoma cell lines derived from double transgenic mice expressing GFP and neu oncogene.Physiologic oxygen enhances human embryonic stem cell clonal recovery and reduces chromosomal abnormalities.Spontaneous and aphidicolin-sensitive fragile site 3cen co-localizes with the (TTAGGG)n telomeric sequence in Chinese hamster cells.Specific chromosomal aberrations correlated to transformation in Chinese hamster cells.Claspin inhibition leads to fragile site expression.X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.Separase prevents genomic instability by controlling replication fork speed.Heterogeneous gene distribution reflects human genome complexity as detected at the cytogenetic level.Cohesin biology and the cohesinopathies: Abstracts from the Second Biennial Conference, Pontignano, Italy, 2009.Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.Mutant cohesin drives chromosomal instability in early colorectal adenomas.Chromosomes, genes, and cancer breakpoints.CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivoOverexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer developmentNo statistical association between fragile sites and constitutional chromosome breakpointsEnhanced expression of common fragile site with occupational exposure to pesticidesLongitudinal patterns similar to G-banding in untreated human chromosomes: evidence from atomic force microscopyCommon fragile sites on human chromosomes represent transcriptionally active regions: evidence from camptothecinSomatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches
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description
researcher, ORCID id # 0000-0001-7701-6543
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wetenschapper
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name
Antonio Musio
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Antonio Musio
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Antonio Musio
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Antonio Musio
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Antonio Musio
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Antonio Musio
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Antonio Musio
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Antonio Musio
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ANTONIO MUSIO
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Antonio Musio
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Antonio Musio
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Antonio Musio
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Antonio Musio
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P106
P1153
6701570139
P21
P31
P496
0000-0001-7701-6543