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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.
Ritelli M, Chiarelli N, Cinquina V, Bertini V, Piantoni S, Caproli A, Della Pina SEL, Franceschini F, Zarattini G, Gandy W, Venturini M, Zoppi N, Colombi M. Ritelli M, et al. Among authors: cinquina v. Am J Med Genet A. 2025 Jan;197(1):e63857. doi: 10.1002/ajmg.a.63857. Epub 2024 Sep 3. Am J Med Genet A. 2025. PMID: 39225014
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts.
Chiarelli N, Cinquina V, Martini P, Bertini V, Zoppi N, Venturini M, Ritelli M, Colombi M. Chiarelli N, et al. Among authors: cinquina v. Biochim Biophys Acta Mol Basis Dis. 2024 Jan;1870(1):166915. doi: 10.1016/j.bbadis.2023.166915. Epub 2023 Oct 10. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 37827202 Free article.
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.
Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M. Fortugno P, et al. Among authors: cinquina v. Eur J Hum Genet. 2023 May;31(5):596-601. doi: 10.1038/s41431-022-01279-4. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599937 Free PMC article.
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.
Ritelli M, Chiarelli N, Cinquina V, Zoppi N, Bertini V, Venturini M, Colombi M. Ritelli M, et al. Among authors: cinquina v. Cells. 2022 Dec 14;11(24):4040. doi: 10.3390/cells11244040. Cells. 2022. PMID: 36552803 Free PMC article.
35 results