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Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype.

作者信息

Morten K J, Poulton J, Sykes B

机构信息

Department of Paediatrics, University of Oxford, John Radcliffe Hospital, Headington, UK.

出版信息

Hum Mol Genet. 1995 Sep;4(9):1689-91. doi: 10.1093/hmg/4.9.1689.

DOI:10.1093/hmg/4.9.1689
PMID:8541865
Abstract
摘要

相似文献

1
Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype.患有线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)表型的患者中线粒体tRNA(亮氨酸UUR)3243突变的多独立发生情况。
Hum Mol Genet. 1995 Sep;4(9):1689-91. doi: 10.1093/hmg/4.9.1689.
2
A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).一名患有线粒体肌病、脑病、乳酸性酸中毒和卒中样发作(MELAS)的患者,其线粒体tRNA(Leu(UUR))基因第3291位核苷酸对出现新的点突变。
Biochem Biophys Res Commun. 1994 Aug 15;202(3):1624-30. doi: 10.1006/bbrc.1994.2119.
3
A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.线粒体tRNA与ND1基因突变的一种新组合见于一种伴有线粒体脑肌病伴乳酸血症和卒中样发作、心肌病及糖尿病的综合征。
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4
Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.携带G12300A突变的线粒体tRNALeu(CUN)中摆动修饰的获得抑制了MELAS分子缺陷。
Hum Mol Genet. 2006 Mar 15;15(6):897-904. doi: 10.1093/hmg/ddl007. Epub 2006 Jan 30.
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Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.对源自包含与线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)相关点突变的线粒体DNA(mtDNA)区域的线粒体RNA进行精细定位。
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Increased risk of stroke in patients with the A12308G polymorphism in mitochondria.线粒体中存在A12308G多态性的患者中风风险增加。
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Clinical picture of a case of diabetes with mitochondrial tRNA mutation at position 3271.一名患有线粒体tRNA第3271位突变的糖尿病患者的临床表现。
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8
A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).位于3256位点的线粒体tRNA(亮氨酸)(UUR)突变与线粒体肌病、脑病、乳酸性酸中毒和卒中样发作(MELAS)相关。
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Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.MELAS患者线粒体DNA的tRNA3243(Leu)点突变定量及其对线粒体转录的影响。
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Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.突变型tRNA中摆动修饰缺陷与人类线粒体疾病临床特征之间的特定相关性。
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Metabolic rescue in pluripotent cells from patients with mtDNA disease.多能细胞中线粒体 DNA 疾病患者的代谢挽救。
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Rev Diabet Stud. 2009 Winter;6(4):237-46. doi: 10.1900/RDS.2009.6.237. Epub 2009 Dec 30.
6
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.线粒体DNA单倍群在A3243G突变的可变表型表现中不起作用。
Am J Hum Genet. 2003 Apr;72(4):1005-12. doi: 10.1086/373936. Epub 2003 Feb 24.
7
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.线粒体脑肌病、乳酸酸中毒和卒中样发作的A3243G突变的流行病学:成人人群中该突变的患病率
Am J Hum Genet. 1998 Aug;63(2):447-54. doi: 10.1086/301959.
8
Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes.一名患有两种异质性碱基变化患者的细胞内线粒体三重质体。
Am J Hum Genet. 1997 Jun;60(6):1430-8. doi: 10.1086/515460.