Borghini S - Search Results

1

A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: Therapeutic efficacy of proton pump inhibitors.

Bertoni A, Carta S, Baldovini C, Penco F, Balza E, Borghini S, Di Duca M, Ognio E, Signori A, Nozza P, Schena F, Castellani P, Pastorino C, Perrone C, Obici L, Martini A, Ceccherini I, Gattorno M, Rubartelli A, Chiesa S. Bertoni A, et al. Among authors: borghini s. J Allergy Clin Immunol. 2020 Jan;145(1):368-378.e13. doi: 10.1016/j.jaci.2019.05.034. Epub 2019 Jun 10. J Allergy Clin Immunol. 2020. PMID: 31194989

2

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

Lasigliè D, Mensa-Vilaro A, Ferrera D, Caorsi R, Penco F, Santamaria G, Di Duca M, Amico G, Nakagawa K, Antonini F, Tommasini A, Consolini R, Insalaco A, Cattalini M, Obici L, Gallizzi R, Santarelli F, Del Zotto G, Severino M, Rubartelli A, Ravazzolo R, Martini A, Ceccherini I, Nishikomori R, Gattorno M, Arostegui JI, Borghini S. Lasigliè D, et al. Among authors: borghini s. J Rheumatol. 2017 Nov;44(11):1667-1673. doi: 10.3899/jrheum.170041. Epub 2017 Sep 15. J Rheumatol. 2017. PMID: 28916543 Free article.

3

Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.

Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, Fiore M, Delfino L, Lasigliè D, Ferraris C, Traggiai E, Di Duca M, Santamaria G, D'Osualdo A, Tosca M, Martini A, Ceccherini I, Rubartelli A, Gattorno M. Borghini S, et al. Arthritis Rheum. 2011 Mar;63(3):830-9. doi: 10.1002/art.30170. Arthritis Rheum. 2011. PMID: 21360512 Free PMC article.

4

Candidate genes in patients with autoinflammatory syndrome resembling tumor necrosis factor receptor-associated periodic syndrome without mutations in the TNFRSF1A gene.

Borghini S, Fiore M, Di Duca M, Caroli F, Finetti M, Santamaria G, Ferlito F, Bua F, Picco P, Obici L, Martini A, Gattorno M, Ceccherini I. Borghini S, et al. J Rheumatol. 2011 Jul;38(7):1378-84. doi: 10.3899/jrheum.101260. Epub 2011 Apr 1. J Rheumatol. 2011. PMID: 21459945

5

Gene expression profile in TNF receptor-associated periodic syndrome reveals constitutively enhanced pathways and new players in the underlying inflammation.

Borghini S, Ferrera D, Prigione I, Fiore M, Ferraris C, Mirisola V, Amaro AA, Gueli I, Zammataro L, Gattorno M, Pfeffer U, Ceccherini I. Borghini S, et al. Clin Exp Rheumatol. 2016 Sep-Oct;34(6 Suppl 102):S121-S128. Epub 2016 Jun 16. Clin Exp Rheumatol. 2016. PMID: 27310036

6

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.

Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R, Ceccherini I. Bachetti T, et al. Among authors: borghini s. Hum Mol Genet. 2005 Jul 1;14(13):1815-24. doi: 10.1093/hmg/ddi188. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888479

7

Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia.

Borghini S, Vargiolu M, Di Duca M, Ravazzolo R, Ceccherini I. Borghini S, et al. Mol Cancer Res. 2006 Sep;4(9):635-43. doi: 10.1158/1541-7786.MCR-05-0250. Mol Cancer Res. 2006. PMID: 16966433

8

An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene.

Bachetti T, Borghini S, Ravazzolo R, Ceccherini I. Bachetti T, et al. Among authors: borghini s. Gene Expr. 2005;12(3):137-49. doi: 10.3727/000000005783992106. Gene Expr. 2005. PMID: 16127999 Free PMC article.

9

The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells.

Borghini S, Bachetti T, Fava M, Di Duca M, Cargnin F, Fornasari D, Ravazzolo R, Ceccherini I. Borghini S, et al. Biochem J. 2006 Apr 15;395(2):355-61. doi: 10.1042/BJ20051386. Biochem J. 2006. PMID: 16402914 Free PMC article.

10

Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.

Borghini S, Di Duca M, Santamaria G, Vargiolu M, Bachetti T, Cargnin F, Pini Prato A, De Giorgio R, Lerone M, Stanghellini V, Jasonni V, Fornasari D, Ravazzolo R, Ceccherini I. Borghini S, et al. Eur J Hum Genet. 2007 Aug;15(8):848-55. doi: 10.1038/sj.ejhg.5201852. Epub 2007 May 16. Eur J Hum Genet. 2007. PMID: 17505528

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