共查询到20条相似文献，搜索用时 31 毫秒
1.
Goyenvalle A Vulin A Fougerousse F Leturcq F Kaplan JC Garcia L Danos O 《Science (New York, N.Y.)》2004,306(5702):1796-1799
Most mutations in the dystrophin gene create a frameshift or a stop in the mRNA and are associated with severe Duchenne muscular dystrophy. Exon skipping that naturally occurs at low frequency sometimes eliminates the mutation and leads to the production of a rescued protein. We have achieved persistent exon skipping that removes the mutated exon on the dystrophin messenger mRNA of the mdx mouse, by a single administration of an AAV vector expressing antisense sequences linked to a modified U7 small nuclear RNA. We report the sustained production of functional dystrophin at physiological levels in entire groups of muscles and the correction of the muscular dystrophy. 相似文献
2.
M O Scott J E Sylvester T Heiman-Patterson Y J Shi W Fieles H Stedman A Burghes P Ray R Worton K H Fischbeck 《Science (New York, N.Y.)》1988,239(4846):1418-1420
A probe for the 5' end of the Duchenne muscular dystrophy (DMD) gene was used to study expression of the gene in normal human muscle, myogenic cell cultures, and muscle from patients with DMD. Expression was found in RNA from normal fetal muscle, adult cardiac and skeletal muscle, and cultured muscle after myoblast fusion. In DMD muscle, expression of this portion of the gene was also revealed by in situ RNA hybridization, particularly in regenerating muscle fibers. 相似文献
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S B Malhotra K A Hart H J Klamut N S Thomas S E Bodrug A H Burghes M Bobrow P S Harper M W Thompson P N Ray 《Science (New York, N.Y.)》1988,242(4879):755-759
Duchenne muscular dystrophy (DMD) and its less severe form Becker muscular dystrophy (BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the translational reading frame of messenger RNA is maintained and a smaller, though partially functional, protein is produced. In order to test this, the exon-intron boundaries of the first ten exons of the DMD gene were determined, and 29 patients were analyzed. In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested. 相似文献
5.
P Sicinski Y Geng A S Ryder-Cook E A Barnard M G Darlison P J Barnard 《Science (New York, N.Y.)》1989,244(4912):1578-1580
6.
Fibroblast growth factor in the extracellular matrix of dystrophic (mdx) mouse muscle 总被引：14，自引：0，他引：14
Polyclonal antibody F547 reacts with a bovine basic fibroblast growth factor (bFGF) and a human recombinant bFGF, but not with bovine acidic fibroblast growth factor. This antibody localized bFGF in the extracellular matrix of mouse skeletal muscle, primarily in the fiber endomysium, which includes the heparin-containing basal lamina. In mdx mouse muscle, which displays persistent regeneration, FGF levels in the extracellular matrix are higher than those in controls. Overabundance of matrix FGF in mdx muscles may be related to an increase in both satellite cell and regenerative activity in the dystrophic muscle and may help explain the benign phenotype of mdx animals compared with the genetically identical human Duchenne muscular dystrophy. 相似文献
7.
Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy 总被引：19，自引：0，他引：19
S E Bodrug P N Ray I L Gonzalez R D Schmickel J E Sylvester R G Worton 《Science (New York, N.Y.)》1987,237(4822):1620-1624
The gene responsible for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) maps to the X chromosome short arm, band Xp21. In a few females with DMD or BMD, the Xp21 region is disrupted by an X-autosome translocation. Accumulating evidence suggests that the exchange has physically disrupted the DMD/BMD locus to cause the disease. One affected female with a t(X;21)(p21;p12) translocation was studied in detail. The exchange points from both translocation chromosomes were cloned, restriction-mapped, and sequenced. The translocation is reciprocal, but not conservative. A small amount of DNA is missing from the translocated chromosomes; 71 to 72 base pairs from the X chromosome and 16 to 23 base pairs from the 28S ribosomal gene on chromosome 21. 相似文献
8.
Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes 总被引：11，自引：0，他引：11
R G Worton C Duff J E Sylvester R D Schmickel H F Willard 《Science (New York, N.Y.)》1984,224(4656):1447-1449
Duchenne muscular dystrophy (DMD) is a severe X-linked disorder leading to early death of affected males. Females with the disease are rare, but seven are known to be affected because of a chromosomal rearrangement involving a site at or near the dmd gene on the X chromosome. One of the seven has a translocation between the X and chromosome 21. The translocation-derived chromosomes from this patient have been isolated, and the translocation is shown to have split the block of genes encoding ribosomal RNA on the short arm of chromosome 21. Thus ribosomal RNA gene probes may be used to identify a junction fragment from the translocation site, allowing access to cloned segments of the X at or near the dmd gene and presenting a new approach to the study of this disease. 相似文献
9.
Met-myoglobin isolated from gluteal muscle of cases with Duchenne type of progressive muscular dystrophy showed an abnormal ultraviolet spectrum. The maximum of the spectrum at pH 7.0 was at 275 mmicro, in contrast to that at 281 m/ A in normal met-myoglobin. Such an abnormality was not found in the limb-girdle type of dystrophy and in progressive spinal muscular atrophy. The results indicate the presence of an abnormal myoglobin in the Duchenne type of progressive muscular dystrophy. 相似文献
10.
绵羊肌肉生长激素受体基因表达的发育性变化研究 总被引：2，自引：0，他引：2
1材料与方法
1．1试验动物选取新疆维吾尔族自治区石河子市紫泥泉种羊场的2、30、60、90和120日龄的雄性哈萨克羊和新疆细毛羊各6只（120日龄的只有新疆细毛羊）,共计54只,测体重后屠宰,采取背最长肌,立即置于液氮中速冻,-70℃保存。 相似文献
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Liquori CL Ricker K Moseley ML Jacobsen JF Kress W Naylor SL Day JW Ranum LP 《Science (New York, N.Y.)》2001,293(5531):864-867
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion in the 3' untranslated region of the dystrophia myotonica-protein kinase gene (DMPK). Several mechanisms have been invoked to explain how this mutation, which does not alter the protein-coding portion of a gene, causes the specific constellation of clinical features characteristic of DM. We now report that DM2 is caused by a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the zinc finger protein 9 (ZNF9) gene. Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2. 相似文献
13.
Continued expression of neonatal myosin heavy chain in adult dystrophic skeletal muscle 总被引：4，自引：0，他引：4
E Bandman 《Science (New York, N.Y.)》1985,227(4688):780-782
The expression of myosin heavy chain isoforms was examined in normal and dystrophic chicken muscle with a monoclonal antibody specific for neonatal myosin. Adult dystrophic muscle continued to contain neonatal myosin long after it disappeared from adult normal muscle. A new technique involving western blotting and peptide mapping demonstrated that the immunoreactive myosin in adult dystrophic muscle was identical to that found in neonatal normal muscle. Immunocytochemistry revealed that all fibers in the dystrophic muscle failed to repress neonatal myosin heavy chain. These studies suggest that muscular dystrophy inhibits the myosin gene switching that normally occurs during muscle maturation. 相似文献
14.
[目的]探讨绵羊肌肉生长激素受体基因(GHR)在生长发育早期的表达。[方法]用real time PCR法对不同日龄雄性哈萨克羊和新疆细毛羊背最长肌GHRmRNA的表达进行定量分析。[结果]绵羊背最长肌GHRmRNA的表达随着日龄的增加先升后降,然后趋于水平,30日龄时最高。哈萨克羊的表达量在2~90日龄期间都极显著低于新疆细毛羊(P<0.01)。[结论]日龄和品种对绵羊肌肉GHR基因表达均有较大影响。 相似文献
15.
鱼油在鲤饲料中的适宜用量 总被引：7，自引：0，他引：7
在高蛋白半纯化饲料中分别添加0，30，50，70，90g/kg的未加抗氧化剂的新鲜鱼油，投喂58g左右2龄鲤（Cyprinus carpio)鱼种46d , 结果表明，添加新鲜鱼油量为30g/kg时，鲤生产性能最佳，鲤肝体比（HSI），肝胰脏脂肪含量，肌肉营养不良症和肌肉渗出性损失随着钎油添加量的增加而持续上升，而肌肉和肾脏氧化稳定性则随着鱼油添加量的增中而持续下降，当添加鱼油量升至30，70，70，50，70，70g/kg时，上述6项指标与对照组差异显著（P＜0．05），综合各项指标，未添加抗氧化剂的新鲜鱼油在高蛋白质鲤饲料中适宜用量以不超过30g/kg为宜。 相似文献
16.
Inamori K Yoshida-Moriguchi T Hara Y Anderson ME Yu L Campbell KP 《Science (New York, N.Y.)》2012,335(6064):93-96
Posttranslational modification of alpha-dystroglycan (α-DG) by the like-acetylglucosaminyltransferase (LARGE) is required for it to function as an extracellular matrix (ECM) receptor. Mutations in the LARGE gene have been identified in congenital muscular dystrophy patients with brain abnormalities. However, the precise function of LARGE remains unclear. Here we found that LARGE could act as a bifunctional glycosyltransferase, with both xylosyltransferase and glucuronyltransferase activities, which produced repeating units of [-3-xylose-α1,3-glucuronic acid-β1-]. This modification allowed α-DG to bind laminin-G domain-containing ECM ligands. 相似文献
17.
Microcirculation: loss of an enzyme activity in chickens with hereditary muscular dystrophy 总被引：4，自引：0，他引：4
Histochemical localization of an alkalinie phosphatase, with (alpha)-naphthyl phosphate used as substrate, shows that activity in breast muscle from normal chickens is restricted to the microvasculature. In chickens with hereditary muscular dystrophy, this enzyme activity disappears from capillaries and small arterioles before degeneraction of muscle fibers is detectable. This loss is retarded in myopathic chickens that have received oxygen therapy. 相似文献
18.
[Objective] The study aimed to explore the expression of muscular growth hormone receptor gene (GHR) in sheep at the early stage of growth and development. [Method] The GHR mRNA expression levels in longissimus dorsal muscles of male Kazak sheep and Xinjiang fine wool sheep with different ages were quantitatively analyzed by real time PCR. [Result] Sheep GHR mRNA expression level in longissimus dorsal muscle increased firstly followed by decline, and then kept steady until the end of the experiment, with the expression peak appearing on postnatal day 30. The GHR mRNA expression level of Kazak sheep was extremely lower than that of Xingjiang fine wool sheep from 2 to 90 days old (P<0.01). [Conclusion] Both age and breed had great effects on the expression of muscular GHR gene in sheep. 相似文献
19.
选择70只小白鼠,随机分为7组,每组10只,雌雄各半。其中第1组为对照组,第2-4组分别肌肉注射pcS/2SS、pGM-CSF/SS和pGM-CSF+pcS/2SS DNA疫苗;第5～7组分别口服以减毒沙门氏菌为载体的pcS/2SS、pGM-CSF/SS和pGM-CSF+pcS/2SS DNA疫苗,以β-actin作为内参,利用相对半定量RT-PCR,检测小鼠肌肉组织GHR和IGF-I mRNA的表达。结果表明:第3、5和6组的GHR mRNA表达显著高于1组和7组(P<0.05),第5和6组的IGF-I mRNA表达显著高于1组、2组、4组和7组(P<0.05),GM-CSF与SS的融合表达质粒(pGM-CSF/SS)的GHR和IGF-I mRNA表达高于pGM-CSF+pcS/2SS共同免疫,同种DNA疫苗,口服免疫组的GHR和IGF-I mRNA表达总体上比肌肉注射组要高。这些结果证明,GM-CSF可促进SS DNA疫苗的免疫效果,提高肌肉组织中GHR和IGF-I mRNA的表达;pGM-CSF/SS效果优于pGM-CSF+pcS/2SS,口服免疫组要优于肌肉注射免疫组。 相似文献
20.
A new probe for the diagnosis of myotonic muscular dystrophy 总被引：11，自引：0，他引：11
R J Bartlett M A Pericak-Vance L Yamaoka J Gilbert M Herbstreith W Y Hung J E Lee T Mohandas G Bruns C Laberge 《Science (New York, N.Y.)》1987,235(4796):1648-1650
Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19S19), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4. 相似文献