Publications by authors named "Paolo Vezzoni"

71Publications

Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.

Stem Cell Res 2020 01 20;42:101660. Epub 2019 Nov 20.

A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2019.101660DOI Listing
January 2020

Correction of a Recessive Genetic Defect by CRISPR-Cas9-Mediated Endogenous Repair.

CRISPR J 2018 06;1:230-238

1 UOS-IRGB, Milan Unit, Italy and Humanitas Clinical and Research Center , Rozzano, Italy.

View Article

Download full-text PDF

Source
http://www.liebertpub.com/doi/10.1089/crispr.2018.0004
Publisher Site
http://dx.doi.org/10.1089/crispr.2018.0004DOI Listing
June 2018

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Bone 2018 09 19;114:125-136. Epub 2018 Jun 19.

Humanitas Clinical and Research Institute, via Manzoni 113, 20089 Rozzano, Italy; CNR-IRGB, Milan Unit, via Fantoli 16/15, 20138 Milan, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bone.2018.06.013DOI Listing
September 2018

Cell fusion in the liver, revisited.

World J Hepatol 2018 Feb;10(2):213-221

Istituto di Ricerca Genetica e Biomedica, CNR, Milan 20138, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4254/wjh.v10.i2.213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838440PMC
February 2018

B lymphocytes limit senescence-driven fibrosis resolution and favor hepatocarcinogenesis in mouse liver injury.

Hepatology 2018 05 25;67(5):1970-1985. Epub 2018 Mar 25.

Milan Unit, Istituto di Ricerca Genetica e Biomedica, National Research Council, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/hep.29636DOI Listing
May 2018

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.

J Bone Miner Res 2017 01 7;32(1):99-105. Epub 2016 Sep 7.

Humanitas Clinical and Research Institute, Rozzano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2929DOI Listing
January 2017

A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells.

Sci Rep 2015 Jul 24;5:12327. Epub 2015 Jul 24.

1] Milan Unit, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Milan, Italy [2] Humanitas Clinical and Research Center, Rozzano, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/srep12327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4513284PMC
July 2015

IL-10 critically modulates B cell responsiveness in Rankl-/- mice.

J Immunol 2015 May 30;194(9):4144-53. Epub 2015 Mar 30.

Istituto di Ricerca Genetica e Biomedica, Unità Operativa di Milano, Consiglio Nazionale delle Richerche, 20138 Milan, Italy; Humanitas Clinical and Research Center, 20089 Rozzano, Italy;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4049/jimmunol.1401977DOI Listing
May 2015

As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene.

J Bone Miner Res 2014 Jul;29(7):1646-50

Unitá Operativa di Supporto (UOS)/Institute of Genetic and Biomedical Research (IRGB), Milan Unit, National Research Council (CNR), Milan, Italy; Humanitas Clinical and Research Center, Rozzano, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.2203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4258090PMC
July 2014

Autofluorescence properties of murine embryonic stem cells during spontaneous differentiation phases.

Lasers Surg Med 2013 Nov 30;45(9):597-607. Epub 2013 Sep 30.

IGM-CNR and Department of Biology & Biotechnology, University Pavia, Pavia, 27100, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/lsm.22182DOI Listing
November 2013

Single-cell analysis of ploidy and centrosomes underscores the peculiarity of normal hepatocytes.

PLoS One 2011 12;6(10):e26080. Epub 2011 Oct 12.

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

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0026080PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192148PMC
February 2012

Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.

J Clin Invest 2010 Apr 15;120(4):1337-44. Epub 2010 Mar 15.

Immunology Institute, Department of Medicine, Mount Sinai School of Medicine, New York, New York 10029, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/JCI41305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846059PMC
April 2010

Osteopetrosis with micro-lacunar resorption because of defective integrin organization.

Lab Invest 2009 Sep 22;89(9):1007-17. Epub 2009 Jun 22.

Department of Pathology, University of Pittsburgh, and Veteran's Affairs Medical Center, Pittsburgh, PA 15261, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/labinvest.2009.58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2856930PMC
September 2009

Fetal liver cells transplanted in utero rescue the osteopetrotic phenotype in the oc/oc mouse.

Am J Pathol 2009 Mar 13;174(3):727-35. Epub 2009 Feb 13.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2353/ajpath.2009.080688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665735PMC
March 2009

Cell fusion is a physiological process in mouse liver.

Hepatology 2008 Nov;48(5):1655-64

Human Genome Department, Istituto di Tecnologie Biomediche, Italian National Research Council, CNR, Segrate, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/hep.22488DOI Listing
November 2008

The Dissection of Human Autosomal Recessive Osteopetrosis Identifies an Osteoclast-Poor Form due to RANKL Deficiency.

Cell Cycle 2007 Dec 30;6(24):3027-3033. Epub 2007 Sep 30.

Department of Human Genome, Institute of Biomedical Technologies, Milan, Italy; Istituto Clinico Humanitas, Rozzano, Italy.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/abs/10.4161/cc.6.24.5105
Publisher Site
http://dx.doi.org/10.4161/cc.6.24.5105DOI Listing
December 2007

Effects of IL-12 gene therapy on spontaneous transgenic and transplanted breast tumors.

Breast Cancer Res Treat 2008 Jul 9;110(2):223-6. Epub 2007 Aug 9.

Istituto di Tecnologie Biomediche, CNR, Segrate, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-007-9713-6DOI Listing
July 2008

Osteopetroses and immunodeficiencies in humans.

Curr Opin Allergy Clin Immunol 2006 Dec;6(6):421-7

Istituto Tecnologie Biomediche, CNR, Segrate, Italy.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00130832-200612000-000
Publisher Site
http://dx.doi.org/10.1097/01.all.0000246620.26623.5bDOI Listing
December 2006

RAG-dependent primary immunodeficiencies.

Hum Mutat 2006 Dec;27(12):1174-84

Istituto di Tecnologie Biomediche, Segrate, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20408DOI Listing
December 2006

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.

View Article

Download full-text PDF

Source
https://www.nature.com/articles/ng1779.pdf
Web Search
https://www.researchgate.net/publication/326121699_A_family_
Web Search
http://www.e-kjgm.org/journal/download_pdf.php?doi=10.5734/J
Web Search
http://www.nature.com/articles/ng1779
Publisher Site
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.

View Article

Download full-text PDF

Source
http://www.liebertpub.com/doi/10.1089/clo.2006.8.16
Publisher Site
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.

View Article

Download full-text PDF

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

Polymorphisms of the CLCN7 gene are associated with BMD in women.

J Bone Miner Res 2005 Nov 18;20(11):1960-7. Epub 2005 Jul 18.

Bone Research Group, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1359/JBMR.050717DOI Listing
November 2005

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
June 2003

Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.

Pediatr Pathol Mol Med 2003 Jan-Feb;22(1):3-9

Pediatric Pathology Section, Department of Pathology, University Hospital Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/pdp.22.1.3.9DOI Listing
June 2003

Chromosomes, genes, and cancer breakpoints.

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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