Author

Sara Pini

University of Modena and Reggio EmiliaORCID 0009-0001-7632-6002Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:cell-cell communication· 1 Assay:DNA methylation· 1 Assay:long-read sequencing· 1

Frequent Co-Authors

Graziano PesoleiD· 2 shared Lorenzo MaggiiD· 2 shared Rossella Ginevra TupleriD· 2 shared Valentina SalsiiD· 2 shared Anthony K. HenrasiD· 1 shared Brian McStayiD· 1 shared Bruno FossoiD· 1 shared Carmelo RodolicoiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersMolecular Biology

Graziano PesoleORCID

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2 papers

Recent·Most cited

A novel family of lncRNAs relate facioscapulohumeral muscular dystrophy to nucleolar architecture and protein synthesis

Valentina Salsi, Francesca Losi, Bruno Fosso, Marco Ferrarini, Sara Pini, Marcello Manfredi, Gaetano Nicola Alfio Vattemi, Tiziana Mongini, Lorenzo Maggi, Graziano Pesole, Anthony K. Henras, Paul D. Kaufman, Brian McStay, Rossella Ginevra Tupler

This study identifies a family of lncRNAs, including FRG2A, whose overexpression in FSHD patients disrupts nucleolar architecture and reduces protein synthesis, linking FSHD to muscle wasting.

bioRxiv · Jun 29, 2024 · PreprintMolecular Biology

A human pan-genomic analysis reconfigures the genetic and epigenetic make up of facioscapulohumeral muscular dystrophy

Valentina Salsi, Matteo Chiara, Sara Pini, Paweł Kuś, Lucia Ruggiero, Silvia Bonanno, Carmelo Rodolico, Stefano Carlo Previtali, Maria Grazia D’Angelo, Lorenzo Maggi, Diego Lopergolo, Marek Kimmel, Filippo Maria Santorelli, Graziano Pesole, Rossella Ginevra Tupler

This study uses pan-genomic data to analyze D4Z4 repeats and CpG methylation in FSHD, finding low methylation correlates with SMCHD1 variants but not clinical phenotypes.

medRxiv · Jun 13, 2023 · PreprintGenetic & Genomic Medicine