Zoppi, Nicoletta

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, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 162

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., et al. (2011) · The American Journal of Human Genetics

Corneal surgery and disordersConnective tissue disorders research

Cited by 135

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., et al. (2013) · Orphanet Journal of Rare Diseases

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 134

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

Zoppi, N., Gardella, R., De Paepe, A., Barlati, S., & Colombi, M. (2004) · Journal of Biological Chemistry

Connective tissue disorders researchCell Adhesion Molecules Research

Cited by 107

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

Chiarelli, N., Ritelli, M., Zoppi, N., & Colombi, M. (2019) · Genes

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 82

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. (2016) · PLOS ONE

Connective tissue disorders researchOral and gingival health research

Cited by 78

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

Janecke, A. R., Li, B., Boehm, M., Krabichler, B., Rohrbach, M., Müller, T., Fuchs, I., Golas, G., Katagiri, Y., Ziegler, S. G., et al. (2016) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 66

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. (2015) · Human Molecular Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 50

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. (2018) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Connective tissue disorders researchOral and gingival health research

Cited by 49

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. (2018) · PLOS ONE

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 45

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. (2015) · Molecular Genetics and Metabolism Reports

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 37

Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts

Zoppi, N., Chiarelli, N., Ritelli, M., & Colombi, M. (2018) · International Journal of Molecular Sciences

Connective tissue disorders researchCell Adhesion Molecules Research

Cited by 37

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. (2019) · PLOS ONE

Connective tissue disorders researchSkin and Cellular Biology Research

Cited by 35

FAK-independent αvβ3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts

Zoppi, N., Barlati, S., & Colombi, M. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Cell Adhesion Molecules ResearchCellular Mechanics and Interactions

Cited by 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. (2008) · Journal of Investigative Dermatology

Connective tissue disorders researchWound Healing and Treatments

Cited by 28

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. (2012) · Biochimica et Biophysica Acta (BBA) - General Subjects

Connective tissue disorders researchCell Adhesion Molecules Research

Cited by 21