Publications by authors named "Nicoletta Zoppi"

39Publications

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel Variant.

Genes (Basel) 2019 10 25;10(11). Epub 2019 Oct 25.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

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http://dx.doi.org/10.3390/genes10110843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895888PMC
October 2019

Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes.

Genes (Basel) 2019 08 12;10(8). Epub 2019 Aug 12.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy.

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http://dx.doi.org/10.3390/genes10080609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6723307PMC
August 2019

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.

PLoS One 2019 4;14(2):e0211647. Epub 2019 Feb 4.

Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211647PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361458PMC
November 2019

Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.

Int J Mol Sci 2018 Mar 26;19(4). Epub 2018 Mar 26.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, 25123 Brescia, Italy.

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http://dx.doi.org/10.3390/ijms19040982DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979373PMC
March 2018

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Biochim Biophys Acta Mol Basis Dis 2018 Apr 5;1864(4 Pt A):1010-1023. Epub 2018 Jan 5.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2018.01.005DOI Listing
April 2018

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.

Orphanet J Rare Dis 2015 Nov 11;10:145. Epub 2015 Nov 11.

Institute of Human Development, Centre for Genomic Medicine, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.

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http://dx.doi.org/10.1186/s13023-015-0360-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642625PMC
November 2015

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.

Hum Mol Genet 2015 Dec 16;24(23):6769-87. Epub 2015 Sep 16.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy

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http://dx.doi.org/10.1093/hmg/ddv382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634379PMC
December 2015

Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts.

Biochim Biophys Acta 2012 Oct 15;1820(10):1576-87. Epub 2012 Jun 15.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, 25123 Brescia, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S03044165120017
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http://dx.doi.org/10.1016/j.bbagen.2012.06.004DOI Listing
October 2012

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Am J Med Genet A 2012 May 9;158A(5):1164-9. Epub 2012 Apr 9.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35266DOI Listing
May 2012

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.

Int J Dev Biol 2011 ;55(2):229-36

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1387/ijdb.103179ncDOI Listing
December 2011

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

Orphanet J Rare Dis 2009 Nov 2;4:24. Epub 2009 Nov 2.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1186/1750-1172-4-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774663PMC
November 2009

Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen.

ScientificWorldJournal 2008 Oct 3;8:956-8. Epub 2008 Oct 3.

Department of Biochemistry A. Castellani, University of Pavia, 27100 Pavia, Italy.

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http://dx.doi.org/10.1100/tsw.2008.131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849222PMC
October 2008

Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.

Eur J Med Genet 2008 Jul-Aug;51(4):292-302. Epub 2008 Mar 10.

Sezione di Biologia e Genetica, Dipartimento di Scienze Biomediche e Biotecnologie, Universita' di Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/j.ejmg.2008.02.006DOI Listing
October 2008

FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts.

Biochim Biophys Acta 2008 Jun 20;1783(6):1177-88. Epub 2008 Mar 20.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Viale Europa 11, 25123 Brescia, Italy.

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http://dx.doi.org/10.1016/j.bbamcr.2008.03.003DOI Listing
June 2008

Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1.

J Invest Dermatol 2008 Aug 28;128(8):1915-9. Epub 2008 Feb 28.

Department of Biochemistry A. Castellani, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1038/jid.2008.33DOI Listing
August 2008

The FN13 peptide inhibits human tumor cells invasion through the modulation of alpha v beta 3 integrins organization and the inactivation of ILK pathway.

Biochim Biophys Acta 2007 Jun 24;1773(6):747-63. Epub 2007 Feb 24.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Viale Europa 11, 25123 Brescia, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S016748890700044
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http://dx.doi.org/10.1016/j.bbamcr.2007.02.007DOI Listing
June 2007

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.

Am J Med Genet A 2007 Jan;143A(2):216-8

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31514DOI Listing
January 2007

Study of conformational properties of a biologically active peptide of fibronectin by circular dichroism, NMR and molecular dynamics simulation.

Phys Chem Chem Phys 2006 Oct 19;8(40):4668-77. Epub 2006 Sep 19.

Dipartimento di Scienze Biomediche e Biotecnologie, Università di Brescia, viale Europa 11, 25123 Brescia, Italy.

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http://xlink.rsc.org/?DOI=b604807b
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http://dx.doi.org/10.1039/b604807bDOI Listing
October 2006

Exclusion of candidate genes in a family with arterial tortuosity syndrome.

Am J Med Genet A 2004 Apr;126A(3):221-8

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.20589DOI Listing
April 2004

Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin.

J Biol Chem 2004 Apr 17;279(18):18157-68. Epub 2004 Feb 17.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, 25123 Brescia, Italy.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M312609200
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http://dx.doi.org/10.1074/jbc.M312609200DOI Listing
April 2004

Matrix assembly induction and cell migration and invasion inhibition by a 13-amino acid fibronectin peptide.

J Biol Chem 2003 Apr 11;278(16):14346-55. Epub 2003 Feb 11.

Division Biology and Genetics, University of Brescia, Italy.

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http://dx.doi.org/10.1074/jbc.M211997200DOI Listing
April 2003

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.

J Invest Dermatol 2002 Dec;119(6):1456-62

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S0022202X1530092
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http://dx.doi.org/10.1046/j.1523-1747.2002.19606.xDOI Listing
December 2002