共查询到20条相似文献，搜索用时 46 毫秒
1.
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
2.
J S Chamberlain J A Pearlman D M Muzny R A Gibbs J E Ranier C T Caskey A A Reeves 《Science (New York, N.Y.)》1988,239(4846):1416-1418
Complementary DNA clones were isolated that represent the 5' terminal 2.5 kilobases of the murine Duchenne muscular dystrophy (Dmd) messenger RNA (mRNA). Mouse Dmd mRNA was detectable in skeletal and cardiac muscle and at a level approximately 90 percent lower in brain. Dmd mRNA is also present, but at much lower than normal levels, in both the muscle and brain of three different strains of dystrophic mdx mice. The identification of Dmd mRNA in brain raises the possibility of a relation between human Duchenne muscular dystrophy (DMD) gene expression and the mental retardation found in some DMD males. These results also provide evidence that the mdx mutations are allelic variants of mouse Dmd gene mutations. 相似文献
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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
5.
The genetic linkage map of the human X chromosome 总被引：50，自引：0，他引：50
A database useful for mapping the human X chromosome has been established. The data consist of the genotypic characterizations obtained at more than 20 DNA marker loci from a set of 38 selected families. Multilocus linkage analysis has provided an initial genetic map completely spanning the distance from the distal short arm to the distal long arm of the chromosome, for a total genetic length of at least 185 recombination units. Analysis of the recombinational behavior of fully marked chromosomes suggests that the number of recombination events on the X chromosome may be nonrandom. Linkage studies of six families that carry the mutation which causes Duchenne muscular dystrophy were combined with linkage data from a large number of normal families. This permitted mapping of the locus for Duchenne muscular dystrophy with greater precision and statistical confidence than studies in which disease families alone provided the genotypic database. This observation suggests that the normal linkage map of this chromosome should be especially valuable in the mapping of rare X-linked diseases. 相似文献
6.
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
7.
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
8.
Erythrocytes from patients with myotonic muscular dystrophy accumulate calcium at a significantly higher rate than normals do. This increased rate of net accumulation appears related to an enhanced permeability of the membrane to calcium, rather than to an impairment in its active outward transport. 相似文献
9.
A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome 总被引：6，自引：0，他引：6
Sultan M Schulz MH Richard H Magen A Klingenhoff A Scherf M Seifert M Borodina T Soldatov A Parkhomchuk D Schmidt D O'Keeffe S Haas S Vingron M Lehrach H Yaspo ML 《Science (New York, N.Y.)》2008,321(5891):956-960
10.
Miyoshi K Saijo K Kuryu Y Oshima Y Nakano M Kawai H 《Science (New York, N.Y.)》1968,159(3816):736-737
Human metmyoglobin was separated electrophoretically into four subfractions: Mb(1), Mb(2), Mb(3), and Mb(4), which divide into at least two biochemically independent groups: Mb(1) and Mb(2), and Mb(3), and Mb(4). In normal subjects, Mb(1) constituted the predominant component; Mb(2), Mb(3), and Mb(4) were the minor components in this descending order. In the Duchenne type of progressive muscular dystrophy, on the contrary, a remarkable decrease in Mb(1) and a concomitant increase in Mb(3) were observed. This unique abnormality in the relative distribution of myoglobin subfractions was recognized only in the Duchenne type and not in other types of progressive muscular dystrophy or in other myopathies. 相似文献
11.
Myotonic muscular dystrophy: abnormalities in fibroblast culture 总被引：3，自引：0，他引：3
Skin fibroblasts in culture, derived from four unrelated patients with myotonic muscular dystrophy, contain abnormally large amounts of material with the staining characteristics of acid mucopolysaccharide. These cells also differ from normal cells in their pattern of growth at a high density in culture. 相似文献
12.
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
13.
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
14.
We report that in heart cells, physiologic stretch rapidly activates reduced-form nicotinamide adenine dinucleotide phosphate (NADPH) oxidase 2 (NOX2) to produce reactive oxygen species (ROS) in a process dependent on microtubules (X-ROS signaling). ROS production occurs in the sarcolemmal and t-tubule membranes where NOX2 is located and sensitizes nearby ryanodine receptors (RyRs) in the sarcoplasmic reticulum (SR). This triggers a burst of Ca(2+) sparks, the elementary Ca(2+) release events in heart. Although this stretch-dependent "tuning" of RyRs increases Ca(2+) signaling sensitivity in healthy cardiomyocytes, in disease it enables Ca(2+) sparks to trigger arrhythmogenic Ca(2+) waves. In the mouse model of Duchenne muscular dystrophy, hyperactive X-ROS signaling contributes to cardiomyopathy through aberrant Ca(2+) release from the SR. X-ROS signaling thus provides a mechanistic explanation for the mechanotransduction of Ca(2+) release in the heart and offers fresh therapeutic possibilities. 相似文献
15.
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
16.
Dystrophic chicken muscle: altered synaptic acetylcholinesterase 总被引：2，自引：0，他引：2
Individual motor endplates in the skeletal muscles of chickens genetically homozygous for muscular dystrophy have been compared with those in normal chickens. Measurements were made there, by specific autoradiographic techniques, of the numbers of total cholinesterase-like molecules and of acetylcholinesterase molecules. The acetylcholinesterase is distinctly decreased at the endplates in dystrophic muscles. The various data available on these muscles are compatible with the concept that a neural factor which determines the synaptic acetylcholinesterase, along with a number of other characters in the muscle cell, is defective in this disorder. 相似文献
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The Prader-Willi syndrome is a congenital disease that is caused by the loss of paternal gene expression from a maternally imprinted region on chromosome 15. This region contains a small nucleolar RNA (snoRNA), HBII-52, that exhibits sequence complementarity to the alternatively spliced exon Vb of the serotonin receptor 5-HT(2C)R. We found that HBII-52 regulates alternative splicing of 5-HT(2C)R by binding to a silencing element in exon Vb. Prader-Willi syndrome patients do not express HBII-52. They have different 5-HT(2C)R messenger RNA (mRNA) isoforms than healthy individuals. Our results show that a snoRNA regulates the processing of an mRNA expressed from a gene located on a different chromosome, and the results indicate that a defect in pre-mRNA processing contributes to the Prader-Willi syndrome. 相似文献
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Skeletal muscle extracts from mice with muscular dystrophy contain severalfold higher than normal levels of free alkaline ribonuclease II activity and none of the free ribonuclease inhibitor normally present. This abnormal pattern is not seen in heart or liver extracts from dystrophic mice. 相似文献
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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