1988. Molecular genetics of Duchenne and Becker muscular dystrophy. Int. Rev. Neurobiol. 29:1-76.Darras BT. Molecular genetics of Duchenne and Becker muscular dystrophy. J Pediatr 1990; 117:1-15. 3. Hyser CL, Mendell JR. Recent advances in Duchenne and Becker muscular dystrophy. Neurol Clin...
Duchenne muscular dystrophy (DMD) is the most common sex linked lethal disease in man (one case in about 4000 male live births). The patients are wheelchair bound around the age of 8–10 years and usually die before the age of 20 years. The mutation rate, estimated by different methods a...
例如,常见的囊性纤维化(Cystic Fibrosis)和杜氏肌营养不良症(Duchenne Muscular Dystrophy)中,PTCs都与疾病的发病机制息息相关。此外,PTCs不仅导致不完全蛋白质的合成,还通过无义介导的mRNA降解(nonsense-mediated mRNA decay, NMD)进一步减少截短蛋白质的产生,从而加剧疾病的症状。 现今的研究表明,通过翻译贯通(translat...
大约10%到20%的遗传性疾病与PTCs相关,这类突变还在肿瘤抑制基因的失活中起着关键作用。例如,常见的囊性纤维化(Cystic Fibrosis)和杜氏肌营养不良症(Duchenne Muscular Dystrophy)中,PTCs都与疾病的发病机制息息相关。此外,PTCs不仅导致不完全蛋白质的合成,还通过无义介导的mRNA降解(nonsense-mediated mRNA decay, NMD...
Duchenne muscular dystrophy (oxford monographs on medical genetics 15) (revised edn) : by Alan E. H. Emery, Oxford University Press, 1988. £17.50 (317 pages) ISBN 0 19 261798 2This chapter focuses on proopiomelanocortin-based (POMC) opioid peptide. The major opioid peptide derived from ...
例如,常见的囊性纤维化(Cystic Fibrosis)和杜氏肌营养不良症(Duchenne Muscular Dystrophy)中,PTCs都与疾病的发病机制息息相关。此外,PTCs不仅导致不完全蛋白质的合成,还通过无义介导的mRNA降解(nonsense-mediated mRNA decay, NMD)进一步减少截短蛋白质的产生,从而加剧疾病的症状。
例如,常见的囊性纤维化(Cystic Fibrosis)和杜氏肌营养不良症(Duchenne Muscular Dystrophy)中,PTCs都与疾病的发病机制息息相关。此外,PTCs不仅导致不完全蛋白质的合成,还通过无义介导的mRNA降解(nonsense-mediated mRNA decay, NMD)进一步减少截短蛋白质的产生,从而加剧疾病的症状。
Transcriptional adaptation upregulates utrophin in Duchenne muscular dystrophy Transcriptional adaptation upregulatesUTRNin Duchenne muscular dystrophy (DMD) patients, as supported by several lines of evidence, including the use of splice-switching antisense oligonucleotides to induce the skipping of out-of-fr...
Duchenne's Muscular Dystrophy Tay-Sachs Disease Track 5: Biomarkers A biomarker is a biological characteristic that is objectively measured and evaluated as an indicator of normal biological or pathological processes, or a response to a therapeutic intervention. Biomarkers may be used alone or in comb...
PROGRESSIVE MUSCULAR DYSTROPHY. VI. INCIDENCE, CLINICAL ASPECTS AND GENETICS OF THE DUCHENNE TYPE. [PROGRESSIVE MUSKELDYSTROPHIE. VI. HAEUFIGKEIT, KLINIK UND GENETIK DER DUCHENNE-FORM.] 来自 ResearchGate 喜欢 0 阅读量: 21 作者:H Moser,U Wiesmann,R Richterich,E Rossi ...