Publications by authors named "Antonio Musio"

53Publications

Simplified four-step retropharyngeal approach for the upper cervical spine: technical note.

Eur Spine J 2020 Nov 9;29(11):2752-2757. Epub 2020 Jul 9.

Department of Neurosurgery, Sant'Anna University Hospital, Viale Aldo Moro 8, 44124, Ferrara, Italy.

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http://dx.doi.org/10.1007/s00586-020-06521-5DOI Listing
November 2020

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

Am J Med Genet A 2020 07 31;182(7):1690-1696. Epub 2020 May 31.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61611DOI Listing
July 2020

The multiple facets of the SMC1A gene.

Authors:
Antonio Musio

Gene 2020 Jun 25;743:144612. Epub 2020 Mar 25.

Institute for Genetic and Biomedical Research (IRGB), National Research Council (CNR), Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2020.144612DOI Listing
June 2020

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Int J Mol Sci 2020 Feb 4;21(3). Epub 2020 Feb 4.

Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, E-50009 Zaragoza, Spain.

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http://dx.doi.org/10.3390/ijms21031042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038094PMC
February 2020

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.

J Med Genet 2020 05 8;57(5):289-295. Epub 2019 Nov 8.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy

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http://dx.doi.org/10.1136/jmedgenet-2019-106277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231464PMC
May 2020

Reciprocal Regulation of TRPS1 and miR-221 in Intervertebral Disc Cells.

Cells 2019 09 28;8(10). Epub 2019 Sep 28.

Department of Biomedical and Specialty Surgical Sciences, University of Ferrara, 44121 Ferrara, Italy.

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http://dx.doi.org/10.3390/cells8101170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829335PMC
September 2019

Type II odontoid fracture in elderly patients treated conservatively: is fracture healing the goal?

Eur Spine J 2019 05 23;28(5):1064-1071. Epub 2019 Jan 23.

Neurosurgery Division, University Hospital S.Anna, Viale Aldo Moro 8, 44121, Cona di Ferrara, Italy.

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http://dx.doi.org/10.1007/s00586-019-05898-2DOI Listing
May 2019

Genome stability: What we have learned from cohesinopathies.

Am J Med Genet C Semin Med Genet 2016 06 19;172(2):171-8. Epub 2016 Apr 19.

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http://dx.doi.org/10.1002/ajmg.c.31492DOI Listing
June 2016

A role for Separase in telomere protection.

Nat Commun 2016 Jan 18;7:10405. Epub 2016 Jan 18.

Department of Biology and Biotechnology "Charles Darwin" Section of Genetics, SAPIENZA University of Rome, P.le Aldo Moro 5, 00185 Rome, Italy.

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http://dx.doi.org/10.1038/ncomms10405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735636PMC
January 2016

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

Sci Rep 2015 Nov 19;5:16803. Epub 2015 Nov 19.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.

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http://dx.doi.org/10.1038/srep16803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4652179PMC
November 2015

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

PLoS Genet 2015 Jun 25;11(6):e1005167. Epub 2015 Jun 25.

Dipartimento di Biologia e Biotecnologie, Sapienza-Università di Roma, Roma, Italy; Istituto Pasteur Fondazione Cenci Bolognetti, Sapienza-Università di Roma, Roma, Italy; Istituto di Biologia e Patologia Molecolari del CNR, Sapienza-Università di Roma, Roma, Italy.

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http://dx.doi.org/10.1371/journal.pgen.1005167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481533PMC
June 2015

Clinical utility gene card for: Cornelia de Lange syndrome.

Eur J Hum Genet 2015 Oct 24;23(10). Epub 2014 Dec 24.

Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Paediatrics Medical School, University of Zaragoza, CIBERER-GCV and IIS-Aragón, Zaragoza, Spain.

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http://dx.doi.org/10.1038/ejhg.2014.270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592075PMC
October 2015

Mutant cohesin drives chromosomal instability in early colorectal adenomas.

Hum Mol Genet 2014 Dec 30;23(25):6773-8. Epub 2014 Jul 30.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy Istituto Toscano Tumori, Firenze, Italy

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http://dx.doi.org/10.1093/hmg/ddu394DOI Listing
December 2014

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

Biochem Biophys Res Commun 2014 May 26;447(2):231-6. Epub 2014 Mar 26.

Fondazione Toscana Gabriele Monasterio, Via Moruzzi n. 1, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2014.03.090DOI Listing
May 2014

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

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.

Am J Med Genet A 2014 Jan 20;164A(1):177-81. Epub 2013 Nov 20.

Département de Génétique Médicale, Centre Hospitalier Universitaire, Montpellier, France.

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http://dx.doi.org/10.1002/ajmg.a.36166DOI Listing
January 2014

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

Hum Mutat 2013 Dec 16;34(12):1589-96. Epub 2013 Sep 16.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.

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http://dx.doi.org/10.1002/humu.22430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3880228PMC
December 2013

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

J Proteome Res 2012 Dec 5;11(12):6111-23. Epub 2012 Nov 5.

Functional Proteomics Laboratory, Department of Biotechnologies, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1021/pr300760pDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519430PMC
December 2012

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Am J Med Genet A 2012 Aug 18;158A(8):1865-76. Epub 2012 Jun 18.

Division of Human Genetics, The Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.35415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402612PMC
August 2012

SMC1A codon 496 mutations affect the cellular response to genotoxic treatments.

Am J Med Genet A 2012 Jan 2;158A(1):224-8. Epub 2011 Dec 2.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34384DOI Listing
January 2012

The dark side of cohesin: the carcinogenic point of view.

Mutat Res 2011 Nov-Dec;728(3):81-7

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Richerche, Pisa, Italy.

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http://dx.doi.org/10.1016/j.mrrev.2011.07.004DOI Listing
January 2012

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

Am J Med Genet A 2010 Jul;152A(7):1630-40

Istituto di Tecnologie Biomediche Consiglio Nazionale delle Ricerche (CNR), Pisa, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.33439
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http://dx.doi.org/10.1002/ajmg.a.33439DOI Listing
July 2010

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

Hum Mutat 2010 Jun;31(6):623-30

Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Pisa, Italy.

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http://dx.doi.org/10.1002/humu.21252DOI Listing
June 2010

Claspin inhibition leads to fragile site expression.

Genes Chromosomes Cancer 2009 Dec;48(12):1083-90

Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Segrate (Mi), Italy.

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http://dx.doi.org/10.1002/gcc.20710DOI Listing
December 2009

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Nat Genet 2006 May 9;38(5):528-30. Epub 2006 Apr 9.

Institute of Biomedical Technologies, Human Genome Department, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Italy.

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https://www.nature.com/articles/ng1779.pdf
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https://www.researchgate.net/publication/326121699_A_family_
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http://www.e-kjgm.org/journal/download_pdf.php?doi=10.5734/J
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http://www.nature.com/articles/ng1779
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http://dx.doi.org/10.1038/ng1779DOI Listing
May 2006

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

Cloning Stem Cells 2006 ;8(1):16-23

Gene Function and Development, Roslin Institute, Midlothian, Scotland, United Kingdom.

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http://www.liebertpub.com/doi/10.1089/clo.2006.8.16
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http://dx.doi.org/10.1089/clo.2006.8.16DOI Listing
August 2006

SMC1 inhibition results in FRA3B expression but has no effect on its delayed replication.

Mutat Res 2006 Mar;595(1-2):23-8

Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Dipartimento Genoma Umano, Via Fratelli Cervi, 93, 20090 Segrate, Milan, Italy.

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http://dx.doi.org/10.1016/j.mrfmmm.2005.09.002DOI Listing
March 2006

SMC1 involvement in fragile site expression.

Hum Mol Genet 2005 Feb 7;14(4):525-33. Epub 2005 Jan 7.

Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Milan, Italy.

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http://dx.doi.org/10.1093/hmg/ddi049DOI Listing
February 2005

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

Gene 2004 Apr;331:33-40

Istituto di Tecnologie Biomediche, Dipartimento Genoma Umano, C.N.R., Via Fratelli Cervi, 93, I-20090 Segrate, Mi, Italy.

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http://dx.doi.org/10.1016/j.gene.2004.01.028DOI Listing
April 2004

Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts.

Cancer Res 2003 Jun;63(11):2855-63

Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Via Fratelli Cervi, 93, 20090 Segrate, Milan, Italy.

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June 2003

Chromosomes, genes, and cancer breakpoints.

Cancer Genet Cytogenet 2002 Dec;139(2):141-2

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http://dx.doi.org/10.1016/s0165-4608(02)00618-0DOI Listing
December 2002

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

Cancer Genet Cytogenet 2002 Apr;134(2):168-71

Istituto di Tecnologie Biomediche, C.N.R., Via Fratelli Cervi, 93, 20090, MI, Segrate, Italy.

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http://dx.doi.org/10.1016/s0165-4608(01)00630-6DOI Listing
April 2002