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N. Zoppi · SciRah

Researcher profile · Semantic Scholar

N. Zoppi

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N. Zoppi — researcher profile on SciRah

h-index: 29
Works: 76
Citations: 2,478

Most-cited papers

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
P. Coucke, A. Willaert, M. Wessels, B. Callewaert +14 more
2006Nature Genetics410 citations Open access
Semantic Scholar
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
M. Baumann, C. Giunta, Birgit Krabichler, F. Rüschendorf +21 more
2012American Journal of Human Genetics146 citations Open access
Semantic Scholar
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
E. Burkitt Wright, H. Spencer, Sarah B. Daly, F. Manson +19 more
2011American Journal of Human Genetics126 citations Open access
Semantic Scholar
Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
M. Ritelli, C. Dordoni, M. Venturini, N. Chiarelli +9 more
2013Orphanet Journal of Rare Diseases118 citations Open access
Semantic Scholar
Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.
R. Gardella, L. Belletti, N. Zoppi, Dario Marini +2 more
1996American Journal of Human Genetics89 citations
Semantic Scholar
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
R. Gardella, D. Castiglia, P. Posteraro, Silvia Bernardini +7 more
2002Journal of Investigative Dermatology79 citations Open access
Semantic Scholar
Human Fibroblasts with Mutations in COL5A1 and COL3A1 Genes Do Not Organize Collagens and Fibronectin in the Extracellular Matrix, Down-regulate α2β1 Integrin, and Recruit αvβ3 Instead of α5β1 Integrin*
N. Zoppi, R. Gardella, A. De Paepe, S. Barlati +1 more
2004Journal of Biological Chemistry78 citations Open access
Semantic Scholar
Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes
N. Chiarelli, M. Ritelli, N. Zoppi, M. Colombi
2019Genes73 citations Open access
Semantic Scholar
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type
N. Chiarelli, Giulia Carini, N. Zoppi, C. Dordoni +4 more
2016PLoS ONE59 citations Open access
Semantic Scholar
The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations
A. Janecke, Ben C Li, M. Boehm, Birgit Krabichler +13 more
2015American Journal of Medical Genetics. Part A59 citations Open access
Semantic Scholar
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.
N. Zoppi, N. Chiarelli, S. Binetti, M. Ritelli +1 more
2018Biochimica et Biophysica Acta - Molecular Basis of Disease52 citations Open access
Semantic Scholar
Exclusion of candidate genes in a family with arterial tortuosity syndrome
R. Gardella, N. Zoppi, D. Assanelli, M. Muiesan +2 more
2004American Journal of Medical Genetics. Part A52 citations
Semantic Scholar
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
N. Zoppi, N. Chiarelli, V. Cinquina, M. Ritelli +1 more
2015Human Molecular Genetics49 citations Open access
Semantic Scholar
Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization
B. Drera, D. Castiglia, N. Zoppi, R. Gardella +7 more
2006Clinical Genetics45 citations
Semantic Scholar
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
Juan Li, M. Ritelli, Cindy S. Ma, G. Rao +32 more
2019Science immunology44 citations Open access
Semantic Scholar
COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
S. Morlino, L. Micale, M. Ritelli, M. Rohrbach +18 more
2019Clinical Genetics44 citations
Semantic Scholar
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome
N. Chiarelli, Giulia Carini, N. Zoppi, M. Ritelli +1 more
2018PLoS ONE40 citations Open access
Semantic Scholar
COL6A5 variants in familial neuropathic chronic itch
F. Martinelli-Boneschi, M. Colombi, M. Castori, G. Devigili +25 more
2017Brain : a journal of neurology40 citations Open access
Semantic Scholar
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.
N. Zoppi, R. Gardella, A. De Paepe, S. Barlati +1 more
2004Journal of Biological Chemistry39 citations
Semantic Scholar
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
M. Castori, M. Ritelli, N. Zoppi, L. Molisso +4 more
2012American Journal of Medical Genetics. Part A38 citations
Semantic Scholar
Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts
N. Zoppi, N. Chiarelli, M. Ritelli, M. Colombi
2018International Journal of Molecular Sciences35 citations Open access
Semantic Scholar
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome
B. Drera, A. Guala, N. Zoppi, R. Gardella +3 more
2007American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts.
N. Zoppi, S. Barlati, M. Colombi
2008Biochimica et Biophysica Acta33 citations Open access
Semantic Scholar
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts
N. Chiarelli, Giulia Carini, N. Zoppi, M. Ritelli +1 more
2019PLoS ONE32 citations Open access
Semantic Scholar
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
M. Ritelli, N. Chiarelli, N. Zoppi, C. Dordoni +5 more
2014Molecular Genetics and Metabolism Reports32 citations Open access
Semantic Scholar
Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders.
P. Calzavara-Pinton, M. Colombi, A. Carlino, C. Zane +6 more
1995Archives of Dermatology32 citations
Semantic Scholar
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients
M. Colombi, C. Dordoni, M. Venturini, C. Ciaccio +7 more
2017Clinical Genetics31 citations
Semantic Scholar
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients
B. Drera, M. Ritelli, N. Zoppi, A. Wischmeijer +5 more
2009Orphanet Journal of Rare Diseases31 citations Open access
Semantic Scholar
Matrix Assembly Induction and Cell Migration and Invasion Inhibition by a 13-Amino Acid Fibronectin Peptide*
M. Colombi, N. Zoppi, G. De Petro, E. Marchina +4 more
2003Journal of Biological Chemistry31 citations Open access
Semantic Scholar
Glucose transporter type 10—lacking in arterial tortuosity syndrome—facilitates dehydroascorbic acid transport
C. E. Németh, P. Marcolongo, A. Gamberucci, R. Fulceri +13 more
2016FEBS Letters29 citations Open access
Semantic Scholar
Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene
R. Gardella, N. Zoppi, G. Zambruno, S. Barlati +1 more
2002British Journal of Dermatology29 citations Open access
Semantic Scholar
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts.
N. Chiarelli, N. Zoppi, M. Ritelli, M. Venturini +3 more
2020Biochimica et Biophysica Acta - Molecular Basis of Disease25 citations Open access
Semantic Scholar
Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome
L. Porter, R. Gallego-Pinazo, C. Keeling, Martyna Kamieniorz +6 more
2015Orphanet Journal of Rare Diseases24 citations Open access
Semantic Scholar
Bridging the Diagnostic Gap for Hypermobile Ehlers‐Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker
M. Ritelli, N. Chiarelli, V. Cinquina, Valeria Bertini +9 more
2024American Journal of Medical Genetics. Part A23 citations Open access
Semantic Scholar
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant
Daisy Rymen, M. Ritelli, N. Zoppi, V. Cinquina +3 more
2019Genes23 citations Open access
Semantic Scholar
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.
G. Borsani, G. Piovani, N. Zoppi, Valeria Bertini +3 more
2008European Journal of Medical Genetics22 citations
Semantic Scholar
Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1.
S. Viglio, N. Zoppi, A. Sangalli, A. Gallanti +4 more
2008Journal of Investigative Dermatology22 citations Open access
Semantic Scholar
GLUT10—Lacking in Arterial Tortuosity Syndrome—Is Localized to the Endoplasmic Reticulum of Human Fibroblasts
A. Gamberucci, P. Marcolongo, C. E. Németh, N. Zoppi +13 more
2017International Journal of Molecular Sciences20 citations Open access
Semantic Scholar
Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts.
N. Zoppi, M. Ritelli, M. Colombi
2012Biochimica et Biophysica Acta19 citations
Semantic Scholar
Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts
R. Gardella, N. Zoppi, S. Ferraboli, Dario Marini +3 more
1999Human Mutation19 citations
Semantic Scholar
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations.
B. Drera, N. Zoppi, M. Ritelli, S. Barlati +14 more
2011Journal of dermatological science (Amsterdam)18 citations Open access
Semantic Scholar
Quantitative Evaluation of mRNAs by In Situ Hybridization and Image Analysis: Principles and Applications
M. Colombi, L. Moro, N. Zoppi, S. Barlati
1993DNA and Cell Biology17 citations
Semantic Scholar
RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms
M. Ritelli, N. Chiarelli, V. Cinquina, N. Zoppi +3 more
2022Cells16 citations Open access
Semantic Scholar
Mutations in FKBP 14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis , Myopathy , and Hearing Loss
M. Baumann, C. Giunta, Birgit Krabichler, F. Rüschendorf +21 more
16 citations
Semantic Scholar
Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target?
N. Chiarelli, N. Zoppi, M. Venturini, D. Capitanio +3 more
2021Cells15 citations Open access
Semantic Scholar
Human Fibroblasts with Mutations in COL 5 A 1 and COL 3 A 1 Genes Do Not Organize Collagens and Fibronectin in the Extracellular
N. Zoppi, R. Gardella, A. De Paepe, S. Barlati +1 more
200414 citations
Semantic Scholar
Alternative splicing of mGlu6 gene generates a truncated glutamate receptor in rat retina
A. Valerio, N. Zoppi, S. Ferraboli, M. Paterlini +3 more
2001NeuroReport14 citations
Semantic Scholar
EFFECT OF DEXAMETHASONE ON THE ASSEMBLY OF THE MATRIX OF FIBRONECTIN AND ON ITS RECEPTORS ORGANIZATION IN EHLERS‐DANLOS SYNDROME SKIN FIBROBLASTS
N. Zoppi, Annalisa Ghinelli, R. Gardella, S. Barlati +1 more
1998Cell Biology International14 citations
Semantic Scholar
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.
N. Chiarelli, M. Ritelli, N. Zoppi, Anna Benini +3 more
2011International Journal of Developmental Biology13 citations Open access
Semantic Scholar
A ‐96C→T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa
R. Gardella, S. Barlati, N. Zoppi, G. Tadini +1 more
2000Human Mutation13 citations Open access
Semantic Scholar

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M. Colombi×44
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M. Ritelli×25
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