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Items: 19

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.

J Allergy Clin Immunol. 2019 Jun 10. pii: S0091-6749(19)30757-2. doi: 10.1016/j.jaci.2019.05.034. [Epub ahead of print]

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.

J Rheumatol. 2017 Nov;44(11):1667-1673. doi: 10.3899/jrheum.170041. Epub 2017 Sep 15.

PMID:
28916543
3.

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.

Clin Exp Rheumatol. 2016 Sep-Oct;34(6 Suppl 102):S121-S128. Epub 2016 Jun 16.

PMID:
27310036
4.

Megacystis, megacolon, and malrotation: a new syndromic association?

Pini Prato A, Rossi V, Fiore M, Avanzini S, Mattioli G, Sanfilippo F, Michelazzi A, Borghini S, Disma N, Montobbio G, Barabino A, Nozza P, Ceccherini I, Gimelli S, Jasonni V.

Am J Med Genet A. 2011 Aug;155A(8):1798-802. doi: 10.1002/ajmg.a.34119. Epub 2011 Jul 7.

PMID:
21739599
5.

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.

J Rheumatol. 2011 Jul;38(7):1378-84. doi: 10.3899/jrheum.101260. Epub 2011 Apr 1.

PMID:
21459945
6.

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.

Arthritis Rheum. 2011 Mar;63(3):830-9. doi: 10.1002/art.30170.

7.

PHOX2B-mediated regulation of ALK expression: in vitro identification of a functional relationship between two genes involved in neuroblastoma.

Bachetti T, Di Paolo D, Di Lascio S, Mirisola V, Brignole C, Bellotti M, Caffa I, Ferraris C, Fiore M, Fornasari D, Chiarle R, Borghini S, Pfeffer U, Ponzoni M, Ceccherini I, Perri P.

PLoS One. 2010 Oct 1;5(10). pii: e13108. doi: 10.1371/journal.pone.0013108.

8.

Functional characterization of a minimal sequence essential for the expression of human TLX2 gene.

Borghini S, Bachetti T, Fava M, Duca MD, Ravazzolo R, Ceccherini I.

BMB Rep. 2009 Dec 31;42(12):788-93.

9.

Search for pathogenetic variants of the SPRY2 gene in intestinal innervation defects.

Borghini S, Duca MD, Pini Prato A, Lerone M, Martucciello G, Jasonni V, Ravazzolo R, Ceccherini I.

Intern Med J. 2009 May;39(5):335-7. doi: 10.1111/j.1445-5994.2009.01907.x.

PMID:
19545245
10.

PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.

Longo L, Borghini S, Schena F, Parodi S, Albino D, Bachetti T, Da Prato L, Truini M, Gambini C, Tonini GP, Ceccherini I, Perri P.

Int J Oncol. 2008 Nov;33(5):985-91.

PMID:
18949361
11.

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.

Eur J Hum Genet. 2007 Aug;15(8):848-55. Epub 2007 May 16.

12.

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions.

Bachetti T, Bocca P, Borghini S, Matera I, Prigione I, Ravazzolo R, Ceccherini I.

Int J Biochem Cell Biol. 2007;39(2):327-39. Epub 2006 Sep 14.

PMID:
17045833
13.

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.

Mol Cancer Res. 2006 Sep;4(9):635-43.

14.

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.

Biochem J. 2006 Apr 15;395(2):355-61.

15.
16.

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.

Hum Mol Genet. 2005 Jul 1;14(13):1815-24. Epub 2005 May 11.

PMID:
15888479
17.

HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders.

Fava M, Borghini S, Cinti R, Cusano R, Seri M, Lerone M, De Giorgio R, Stanghellini V, Martucciello G, Ravazzolo R, Ceccherini I.

Int J Mol Med. 2002 Jul;10(1):101-6.

PMID:
12060859
18.

Hirschsprung associated GDNF mutations do not prevent RET activation.

Borghini S, Bocciardi R, Bonardi G, Matera I, Santamaria G, Ravazzolo R, Ceccherini I.

Eur J Hum Genet. 2002 Mar;10(3):183-7.

19.

Alternative metabolic pathways for energy supply and resistance to apoptosis in Fanconi anaemia.

Bogliolo M, Borghini S, Abbondandolo A, Degan P.

Mutagenesis. 2002 Jan;17(1):25-30.

PMID:
11752230

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