Maestri I - Search Results

1

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.

Cavallari N, Balestra D, Branchini A, Maestri I, Chuamsunrit A, Sasanakul W, Mariani G, Pagani F, Bernardi F, Pinotti M. Cavallari N, et al. Among authors: maestri i. Biochim Biophys Acta. 2012 Jul;1822(7):1109-13. doi: 10.1016/j.bbadis.2012.03.001. Epub 2012 Mar 9. Biochim Biophys Acta. 2012. PMID: 22426302 Free PMC article.

2

Rescue of coagulation factor VII function by the U1+5A snRNA.

Pinotti M, Balestra D, Rizzotto L, Maestri I, Pagani F, Bernardi F. Pinotti M, et al. Among authors: maestri i. Blood. 2009 Jun 18;113(25):6461-4. doi: 10.1182/blood-2009-03-207613. Epub 2009 Apr 22. Blood. 2009. PMID: 19387004 Free article.

3

Disease-causing variants of the conserved +2T of 5' splice sites can be rescued by engineered U1snRNAs.

Scalet D, Maestri I, Branchini A, Bernardi F, Pinotti M, Balestra D. Scalet D, et al. Among authors: maestri i. Hum Mutat. 2019 Jan;40(1):48-52. doi: 10.1002/humu.23680. Epub 2018 Nov 19. Hum Mutat. 2019. PMID: 30408273

4

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.

Ferraresi P, Balestra D, Guittard C, Buthiau D, Pan-Petesh B, Maestri I, Farah R, Pinotti M, Giansily-Blaizot M. Ferraresi P, et al. Among authors: maestri i. Haematologica. 2020 Mar;105(3):829-837. doi: 10.3324/haematol.2019.217539. Epub 2019 Jul 4. Haematologica. 2020. PMID: 31273093 Free PMC article.

5

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.

Balestra D, Maestri I, Branchini A, Ferrarese M, Bernardi F, Pinotti M. Balestra D, et al. Among authors: maestri i. Front Genet. 2019 Oct 10;10:974. doi: 10.3389/fgene.2019.00974. eCollection 2019. Front Genet. 2019. PMID: 31649737 Free PMC article.

6

Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency.

Lunghi B, Pinotti M, Maestri I, Batorova A, Bernardi F. Lunghi B, et al. Among authors: maestri i. Haematologica. 2008 Mar;93(3):477-8. doi: 10.3324/haematol.11952. Haematologica. 2008. PMID: 18310546 Free article. Clinical Trial.

7

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.

Lombardi S, Leo G, Merlin S, Follenzi A, McVey JH, Maestri I, Bernardi F, Pinotti M, Balestra D. Lombardi S, et al. Among authors: maestri i. Am J Hum Genet. 2021 Aug 5;108(8):1512-1525. doi: 10.1016/j.ajhg.2021.06.012. Epub 2021 Jul 8. Am J Hum Genet. 2021. PMID: 34242570 Free PMC article.

8

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf^ash mice, and govern susceptibility to RNA-based therapies.

Sacchetto C, Peretto L, Baralle F, Maestri I, Tassi F, Bernardi F, van de Graaf SFJ, Pagani F, Pinotti M, Balestra D. Sacchetto C, et al. Among authors: maestri i. Mol Med. 2021 Dec 14;27(1):157. doi: 10.1186/s10020-021-00418-9. Mol Med. 2021. PMID: 34906067 Free PMC article.

9

PvuII RFLP inside the human estrogen receptor gene.

Castagnoli A, Maestri I, Bernardi F, Del Senno L. Castagnoli A, et al. Among authors: maestri i. Nucleic Acids Res. 1987 Jan 26;15(2):866. doi: 10.1093/nar/15.2.866. Nucleic Acids Res. 1987. PMID: 2881267 Free PMC article.

10

The cytoplasmic C-terminus of polycystin-1 increases cell proliferation in kidney epithelial cells through serum-activated and Ca(2+)-dependent pathway(s).

Manzati E, Aguiari G, Banzi M, Manzati M, Selvatici R, Falzarano S, Maestri I, Pinton P, Rizzuto R, del Senno L. Manzati E, et al. Among authors: maestri i. Exp Cell Res. 2005 Apr 1;304(2):391-406. doi: 10.1016/j.yexcr.2004.10.023. Epub 2004 Dec 15. Exp Cell Res. 2005. PMID: 15748886

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