Detalhe da pesquisa
1.
A role for endothelial nitric oxide synthase in intestinal stem cell proliferation and mesenchymal colorectal cancer.
BMC Biol
; 16(1): 3, 2018 01 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29329541
2.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008870
3.
Novel splice-switching oligonucleotide promotes BRCA1 aberrant splicing and susceptibility to PARP inhibitor action.
Int J Cancer
; 140(7): 1564-1570, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27997688
4.
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Clin Chem
; 60(2): 341-52, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24212087
5.
BRCA1 exon 11 a model of long exon splicing regulation.
RNA Biol
; 11(4): 351-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24658338
6.
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Nat Genet
; 37(4): 353-5, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15793586
7.
BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation.
Int J Mol Sci
; 15(7): 13045-59, 2014 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25056543
8.
BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer.
Biochem Soc Trans
; 40(4): 768-72, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22817731
9.
RNA splicing is a key mediator of tumour cell plasticity and a therapeutic vulnerability in colorectal cancer.
Nat Commun
; 13(1): 2791, 2022 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35589755
10.
Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.
Hum Mutat
; 32(4): 436-44, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21309043
11.
Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12.
Nucleic Acids Res
; 35(2): 606-13, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17172597
12.
A study of splicing mutations in disorders of sex development.
Sci Rep
; 7(1): 16202, 2017 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29176693
13.
Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.
J Neurol Neurosurg Psychiatry
; 81(3): 350-2, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20185476
14.
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11.
PLoS One
; 7(5): e37255, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22615956
15.
Low U1 snRNP dependence at the NF1 exon 29 donor splice site.
FEBS J
; 276(7): 2060-73, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19292874
16.
Can donor splice site recognition occur without the involvement of U1 snRNP?
Biochem Soc Trans
; 36(Pt 3): 548-50, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18482005
17.
Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1.
FEBS J
; 275(24): 6101-8, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19016857
18.
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
Proc Natl Acad Sci U S A
; 102(18): 6368-72, 2005 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-15840711