Detalhe da pesquisa
1.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906502
2.
Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy.
Am J Physiol Cell Physiol
; 318(6): C1226-C1237, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32348180
3.
Calpains, cleaved mini-dysferlinC72, and L-type channels underpin calcium-dependent muscle membrane repair.
J Neurosci
; 33(12): 5085-94, 2013 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23516275
4.
Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice.
Acta Neuropathol Commun
; 11(1): 15, 2023 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36653852
5.
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
Brain
; 134(Pt 12): 3516-29, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22067542
6.
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre.
Neuromuscul Disord
; 32(9): 707-717, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35948506
7.
Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.
J Biol Chem
; 285(7): 4715-24, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20007321
8.
The murine stanniocalcin 2 gene is a negative regulator of postnatal growth.
Endocrinology
; 149(5): 2403-10, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18258678
9.
Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.
Gene Expr Patterns
; 7(4): 396-404, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17239664
10.
Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signalling.
Cell Signal
; 33: 30-40, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28192161
11.
Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor.
Cardiovasc Res
; 110(2): 178-87, 2016 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26790476
12.
Modification of the tropomyosin isoform composition of actin filaments in the brain by deletion of an alternatively spliced exon.
Neuropharmacology
; 47(5): 684-93, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15458840
13.
Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies.
FEBS J
; 280(17): 4149-64, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332128
14.
Functional identity of the gamma tropomyosin gene: Implications for embryonic development, reproduction and cell viability.
Bioarchitecture
; 1(1): 49-59, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21866263
15.
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.
J Neuropathol Exp Neurol
; 70(4): 302-13, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21412170
16.
New aspects of tropomyosin-regulated neuritogenesis revealed by the deletion of Tm5NM1 and 2.
Eur J Cell Biol
; 89(7): 489-98, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20223554
17.
Divergent regulation of the sarcomere and the cytoskeleton.
J Biol Chem
; 283(1): 275-283, 2008 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-17951248
18.
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.
Nat Genet
; 39(10): 1261-5, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17828264
19.
Characterisation of a P140K mutant O6-methylguanine-DNA-methyltransferase (MGMT)-expressing transgenic mouse line with drug-selectable bone marrow.
J Gene Med
; 8(9): 1071-85, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16927363
20.
Membrane lymphotoxin contributes to anti-leishmanial immunity by controlling structural integrity of lymphoid organs.
Eur J Immunol
; 32(7): 1993-2003, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12115620