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Items: 1 to 50 of 55

1.

COL1-related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M.

Clin Genet. 2019 Dec 3. doi: 10.1111/cge.13683. [Epub ahead of print]

PMID:
31794058
2.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Li J, Ritelli M, Ma CS, Rao G, Habib T, Corvilain E, Bougarn S, Cypowyj S, Grodecká L, Lévy R, Béziat V, Shang L, Payne K, Avery DT, Migaud M, Boucherit S, Boughorbel S, Guennoun A, Chrabieh M, Rapaport F, Bigio B, Itan Y, Boisson B, Cormier-Daire V, Syx D, Malfait F, Zoppi N, Abel L, Freiberger T, Dietz HC, Marr N, Tangye SG, Colombi M, Casanova JL, Puel A.

Sci Immunol. 2019 Nov 29;4(41). pii: eaax7965. doi: 10.1126/sciimmunol.aax7965.

PMID:
31784499
3.

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

Rymen D, Ritelli M, Zoppi N, Cinquina V, Giunta C, Rohrbach M, Colombi M.

Genes (Basel). 2019 Oct 25;10(11). pii: E843. doi: 10.3390/genes10110843.

4.

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

Chiarelli N, Ritelli M, Zoppi N, Colombi M.

Genes (Basel). 2019 Aug 12;10(8). pii: E609. doi: 10.3390/genes10080609. Review.

5.

TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

Morlino S, Carbone A, Ritelli M, Fusco C, Giambra V, Nardella G, Notarangelo A, Panelli P, Mazzoccoli G, Zoppi N, Grammatico P, Wade EM, Colombi M, Castori M, Micale L.

Hum Mutat. 2019 Oct;40(10):1886-1898. doi: 10.1002/humu.23834. Epub 2019 Jun 27.

PMID:
31250519
6.

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

Chiarelli N, Carini G, Zoppi N, Ritelli M, Colombi M.

PLoS One. 2019 Feb 4;14(2):e0211647. doi: 10.1371/journal.pone.0211647. eCollection 2019.

7.

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

Zoppi N, Chiarelli N, Ritelli M, Colombi M.

Int J Mol Sci. 2018 Mar 26;19(4). pii: E982. doi: 10.3390/ijms19040982. Review.

8.

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

Chiarelli N, Carini G, Zoppi N, Ritelli M, Colombi M.

PLoS One. 2018 Jan 18;13(1):e0191220. doi: 10.1371/journal.pone.0191220. eCollection 2018.

9.

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.

Zoppi N, Chiarelli N, Binetti S, Ritelli M, Colombi M.

Biochim Biophys Acta Mol Basis Dis. 2018 Apr;1864(4 Pt A):1010-1023. doi: 10.1016/j.bbadis.2018.01.005. Epub 2018 Jan 5.

10.

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.

Gamberucci A, Marcolongo P, Németh CE, Zoppi N, Szarka A, Chiarelli N, Hegedűs T, Ritelli M, Carini G, Willaert A, Callewaert BL, Coucke PJ, Benedetti A, Margittai É, Fulceri R, Bánhegyi G, Colombi M.

Int J Mol Sci. 2017 Aug 22;18(8). pii: E1820. doi: 10.3390/ijms18081820.

11.

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, Zanca A, Calzavara-Pinton P, Zoppi N, Castori M, Ritelli M.

Clin Genet. 2017 Dec;92(6):624-631. doi: 10.1111/cge.13052. Epub 2017 Sep 4.

PMID:
28485813
12.

COL6A5 variants in familial neuropathic chronic itch.

Martinelli-Boneschi F, Colombi M, Castori M, Devigili G, Eleopra R, Malik RA, Ritelli M, Zoppi N, Dordoni C, Sorosina M, Grammatico P, Fadavi H, Gerrits MM, Almomani R, Faber CG, Merkies IS, Toniolo D; INGI Network, Cocca M, Doglioni C, Waxman SG, Dib-Hajj SD, Taiana MM, Sassone J, Lombardi R, Cazzato D, Zauli A, Santoro S, Marchi M, Lauria G.

Brain. 2017 Mar 1;140(3):555-567. doi: 10.1093/brain/aww343.

PMID:
28073787
13.

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.

Chiarelli N, Carini G, Zoppi N, Dordoni C, Ritelli M, Venturini M, Castori M, Colombi M.

PLoS One. 2016 Aug 12;11(8):e0161347. doi: 10.1371/journal.pone.0161347. eCollection 2016.

14.

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.

Németh CE, Marcolongo P, Gamberucci A, Fulceri R, Benedetti A, Zoppi N, Ritelli M, Chiarelli N, Colombi M, Willaert A, Callewaert BL, Coucke PJ, Gróf P, Nagy SK, Mészáros T, Bánhegyi G, Margittai É.

FEBS Lett. 2016 Jun;590(11):1630-40. doi: 10.1002/1873-3468.12204. Epub 2016 May 27.

15.

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

Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC.

Orphanet J Rare Dis. 2015 Nov 11;10:145. doi: 10.1186/s13023-015-0360-4.

16.

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.

Zoppi N, Chiarelli N, Cinquina V, Ritelli M, Colombi M.

Hum Mol Genet. 2015 Dec 1;24(23):6769-87. doi: 10.1093/hmg/ddv382. Epub 2015 Sep 16.

17.

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.

Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B.

Am J Med Genet A. 2016 Jan;170A(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16.

18.

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.

Ritelli M, Chiarelli N, Zoppi N, Dordoni C, Quinzani S, Traversa M, Venturini M, Calzavara-Pinton P, Colombi M.

Mol Genet Metab Rep. 2014 Nov 20;2:1-15. doi: 10.1016/j.ymgmr.2014.11.005. eCollection 2015 Mar.

19.

Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, Zoppi N, Vascellaro A, Wischmeijer A, Manfredini E, Garavelli L, Calzavara-Pinton P, Colombi M.

Orphanet J Rare Dis. 2013 Apr 12;8:58. doi: 10.1186/1750-1172-8-58.

20.

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

Zoppi N, Ritelli M, Colombi M.

Biochim Biophys Acta. 2012 Oct;1820(10):1576-87. doi: 10.1016/j.bbagen.2012.06.004. Epub 2012 Jun 15.

PMID:
22705941
21.

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.

Castori M, Ritelli M, Zoppi N, Molisso L, Chiarelli N, Zaccagna F, Grammatico P, Colombi M.

Am J Med Genet A. 2012 May;158A(5):1164-9. doi: 10.1002/ajmg.a.35266. Epub 2012 Apr 9.

PMID:
22488877
22.

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rostásy K, Karall D, Bönnemann CG, Zschocke J, Fauth C.

Am J Hum Genet. 2012 Feb 10;90(2):201-16. doi: 10.1016/j.ajhg.2011.12.004. Epub 2012 Jan 19.

23.

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.

Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, Nicolazzi MA, Musumeci A, Penco S, Buscemi L, Crivelli S, Danesino C, Clementi M, Calzavara-Pinton P, Viglio S, Valli M, Barlati S, Colombi M.

J Dermatol Sci. 2011 Dec;64(3):237-40. doi: 10.1016/j.jdermsci.2011.09.002. Epub 2011 Sep 24. No abstract available. Erratum in: J Dermatol Sci. 2012 Jan;65(1):77.

PMID:
22019127
24.

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM.

Am J Hum Genet. 2011 Jun 10;88(6):767-777. doi: 10.1016/j.ajhg.2011.05.007. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):346.

25.

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

Chiarelli N, Ritelli M, Zoppi N, Benini A, Borsani G, Barlati S, Colombi M.

Int J Dev Biol. 2011;55(2):229-36. doi: 10.1387/ijdb.103179nc.

26.

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

Drera B, Ritelli M, Zoppi N, Wischmeijer A, Gnoli M, Fattori R, Calzavara-Pinton PG, Barlati S, Colombi M.

Orphanet J Rare Dis. 2009 Nov 2;4:24. doi: 10.1186/1750-1172-4-24.

27.

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa.

Drera B, Ritelli M, Tadini G, Zoppi N, Venturini M, Calzavara-Pinton PG, Barlati S, Colombi M.

J Dermatol Sci. 2009 Mar;53(3):222-5. doi: 10.1016/j.jdermsci.2008.09.005. Epub 2008 Oct 25. No abstract available.

PMID:
18951764
28.

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

Viglio S, Zoppi N, Sangalli A, Gallanti A, Barlati S, Mottes M, Colombi M, Valli M.

ScientificWorldJournal. 2008 Oct 3;8:956-8. doi: 10.1100/tsw.2008.131.

29.

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.

Borsani G, Piovani G, Zoppi N, Bertini V, Bini R, Notarangelo L, Barlati S.

Eur J Med Genet. 2008 Jul-Aug;51(4):292-302. doi: 10.1016/j.ejmg.2008.02.006. Epub 2008 Mar 10.

PMID:
18424204
30.

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

Zoppi N, Barlati S, Colombi M.

Biochim Biophys Acta. 2008 Jun;1783(6):1177-88. doi: 10.1016/j.bbamcr.2008.03.003. Epub 2008 Mar 20.

31.

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

Viglio S, Zoppi N, Sangalli A, Gallanti A, Barlati S, Mottes M, Colombi M, Valli M.

J Invest Dermatol. 2008 Aug;128(8):1915-9. doi: 10.1038/jid.2008.33. Epub 2008 Feb 28.

32.

Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum.

Drera B, Brezzi A, Zoppi N, Venturini M, Barlati S, Pinton PG, Colombi M.

J Dermatol Sci. 2008 Mar;49(3):252-5. Epub 2007 Oct 29. No abstract available.

PMID:
18029147
33.

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

Zoppi N, Ritelli M, Salvi A, Colombi M, Barlati S.

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

34.

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

Drera B, Guala A, Zoppi N, Gardella R, Franceschini P, Barlati S, Colombi M.

Am J Med Genet A. 2007 Jan 15;143A(2):216-8. No abstract available.

PMID:
17163528
35.

Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B.

Drera B, Zoppi N, Barlati S, Colombi M.

Clin Genet. 2006 Dec;70(6):532-4. No abstract available.

PMID:
17101001
36.

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

Abbate S, Barlati S, Colombi M, Fornili SL, Francescato P, Gangemi F, Lebon F, Longhi G, Manitto P, Recca T, Speranza G, Zoppi N.

Phys Chem Chem Phys. 2006 Oct 28;8(40):4668-77. Epub 2006 Sep 19.

PMID:
17047765
37.

Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.

Drera B, Castiglia D, Zoppi N, Gardella R, Tadini G, Floriddia G, De Luca N, Pedicelli C, Barlati S, Zambruno G, Colombi M.

Clin Genet. 2006 Oct;70(4):339-47.

PMID:
16965329
38.

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A.

Nat Genet. 2006 Apr;38(4):452-7. Epub 2006 Mar 19.

PMID:
16550171
39.

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

Gardella R, Zoppi N, Assanelli D, Muiesan ML, Barlati S, Colombi M.

Am J Med Genet A. 2004 Apr 30;126A(3):221-8.

PMID:
15054833
41.

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

Colombi M, Zoppi N, De Petro G, Marchina E, Gardella R, Tavian D, Ferraboli S, Barlati S.

J Biol Chem. 2003 Apr 18;278(16):14346-55. Epub 2003 Feb 11.

42.

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

Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M.

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

44.

Alternative splicing of mGlu6 gene generates a truncated glutamate receptor in rat retina.

Valerio A, Zoppi N, Ferraboli S, Paterlini M, Ferrario M, Barlati S, Spano P.

Neuroreport. 2001 Aug 28;12(12):2711-5.

PMID:
11522953
46.

Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin.

De Panfilis G, Ghidini A, Graifemberghi S, Barlati S, Zoppi N, Colombi M.

Br J Dermatol. 2000 Jan;142(1):166-70.

PMID:
10651716
47.

Quantitative in situ hybridization for the evaluation of gene expression in asynchronous and synchronized cell cultures and in tissue sections.

Barlati S, Zoppi N, Copeta A, Tavian D, De Petro G, Colombi M.

Histol Histopathol. 1999 Oct;14(4):1231-40. doi: 10.14670/HH-14.1231. Review.

PMID:
10506939
48.
49.
50.

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