Chiarelli N - Search Results

1

Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts.

Chiarelli N, Cinquina V, Zoppi N, Bertini V, Maddaluno M, De Leonibus C, Settembre C, Venturini M, Colombi M, Ritelli M. Chiarelli N, et al. Biomedicines. 2024 Nov 30;12(12):2749. doi: 10.3390/biomedicines12122749. Biomedicines. 2024. PMID: 39767655 Free article.

2

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: chiarelli n. 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

3

Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers-Danlos Syndrome: Focus on Vascular Prevention.

Buso G, Corvini F, Fusco EM, Messina M, Cherubini F, Laera N, Paini A, Salvetti M, De Ciuceis C, Ritelli M, Venturini M, Chiarelli N, Colombi M, Muiesan ML. Buso G, et al. Among authors: chiarelli n. J Clin Med. 2024 Jul 21;13(14):4255. doi: 10.3390/jcm13144255. J Clin Med. 2024. PMID: 39064294 Free PMC article. Review.

4

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. 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.

5

Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center.

Ritelli M, Chiarelli N, Cinquina V, Vezzoli M, Venturini M, Colombi M. Ritelli M, et al. Among authors: chiarelli n. Am J Med Genet A. 2024 Feb;194(2):174-194. doi: 10.1002/ajmg.a.63426. Epub 2023 Sep 29. Am J Med Genet A. 2024. PMID: 37774134

6

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: chiarelli n. Cells. 2022 Dec 14;11(24):4040. doi: 10.3390/cells11244040. Cells. 2022. PMID: 36552803 Free PMC article.

7

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?

Chiarelli N, Zoppi N, Venturini M, Capitanio D, Gelfi C, Ritelli M, Colombi M. Chiarelli N, et al. Cells. 2021 Nov 19;10(11):3236. doi: 10.3390/cells10113236. Cells. 2021. PMID: 34831458 Free PMC article.

8

Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts.

Chiarelli N, Zoppi N, Ritelli M, Venturini M, Capitanio D, Gelfi C, Colombi M. Chiarelli N, et al. Biochim Biophys Acta Mol Basis Dis. 2021 Apr 1;1867(4):166051. doi: 10.1016/j.bbadis.2020.166051. Epub 2020 Dec 28. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33383104 Free article.

9

Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.

Ritelli M, Palagano E, Cinquina V, Beccagutti F, Chiarelli N, Strina D, Hall IF, Villa A, Sobacchi C, Colombi M. Ritelli M, et al. Among authors: chiarelli n. Bone. 2020 Nov;140:115571. doi: 10.1016/j.bone.2020.115571. Epub 2020 Aug 6. Bone. 2020. PMID: 32768688 Review.

10

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.

Ritelli M, Venturini M, Cinquina V, Chiarelli N, Colombi M. Ritelli M, et al. Among authors: chiarelli n. Orphanet J Rare Dis. 2020 Jul 31;15(1):197. doi: 10.1186/s13023-020-01470-0. Orphanet J Rare Dis. 2020. PMID: 32736638 Free PMC article.

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