Detalhe da pesquisa
1.
Xmn I polymorphism associated with concomitant activation of Gγ and Aγ globin gene transcription on a ß0-thalassemia chromosome.
Blood Cells Mol Dis;
46(2): 133-8, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21144779
2.
Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis.
Blood Cells Mol Dis;
47(3): 158-65, 2011 Oct 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21839655
3.
Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis.
Blood Cells Mol Dis;
45(4): 284-8, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20863723
4.
Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Mol Vis;
16: 1898-906, 2010 Sep 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21031134
5.
Cryptic splicing sites are differentially utilized in vivo.
FEBS J;
275(6): 1150-62, 2008 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18266765
6.
LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy.
Neuromuscul Disord;
18(2): 137-45, 2008 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18053718
7.
Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.
Genet Test;
11(3): 199-207, 2007.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17949279
8.
Spi-1/PU.1 but not Fli-1 inhibits erythroid-specific alternative splicing of 4.1R pre-mRNA in murine erythroleukemia cells.
Oncogene;
23(4): 920-7, 2004 Jan 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14647452
9.
Protein 4.1R expression in normal and dystrophic skeletal muscle.
C R Biol;
328(1): 43-56, 2005 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15714879
10.
A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells.
Blood;
100(7): 2629-36, 2002 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12239178