Detalhe da pesquisa
1.
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.
Am J Hum Genet
; 109(8): 1534-1548, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35905737
2.
OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies.
Mol Med
; 27(1): 157, 2021 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906067
3.
Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA.
Nucleic Acids Res
; 47(14): 7618-7632, 2019 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127278
4.
Rescue of common exon-skipping mutations in cystic fibrosis with modified U1 snRNAs.
Hum Mutat
; 41(12): 2143-2154, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32935393
5.
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.
Hum Mol Genet
; 27(14): 2466-2476, 2018 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29701768
6.
Microprocessor-dependent processing of splice site overlapping microRNA exons does not result in changes in alternative splicing.
RNA
; 24(9): 1158-1171, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895677
7.
A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I.
Int J Mol Sci
; 21(6)2020 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32244944
8.
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.
PLoS Genet
; 12(5): e1006082, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27227676
9.
Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.
Am J Hum Genet
; 96(1): 93-103, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557785
10.
Analysis of psoriasis-relevant gene expression and exon usage alterations after silencing of SR-rich splicing regulators.
Exp Dermatol
; 27(6): 656-662, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29512856
11.
Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
Hepatology
; 61(4): 1382-91, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25421123
12.
Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.
Hum Mutat
; 36(5): 504-12, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25665175
13.
Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.
J Physiol
; 593(17): 3829-48, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108457
14.
Unusual splice site mutations disrupt FANCA exon 8 definition.
Biochim Biophys Acta
; 1842(7): 1052-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24704046
15.
A competitive regulatory mechanism discriminates between juxtaposed splice sites and pri-miRNA structures.
Nucleic Acids Res
; 41(18): 8680-91, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23863840
16.
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.
Hum Mol Genet
; 21(11): 2389-98, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22362925
17.
Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.
Biochim Biophys Acta
; 1822(7): 1109-13, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22426302
18.
TMEM16A alternative splicing coordination in breast cancer.
Mol Cancer
; 12: 75, 2013 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23866066
19.
Intron cleavage affects processing of alternatively spliced transcripts.
RNA
; 17(8): 1604-13, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21673105
20.
An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.
Nature
; 448(7156): 934-7, 2007 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-17687331