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Literature DB >> 8541865

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

K J Morten¹, J Poulton, B Sykes.

Abstract

Entities: Mutation Species

Mesh：

Substances：

Year: 1995 PMID： 8541865 DOI： 10.1093/hmg/4.9.1689

Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150

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8 in total

1. Metabolic rescue in pluripotent cells from patients with mtDNA disease.

Authors: Hong Ma; Clifford D L Folmes; Jun Wu; Robert Morey; Sergio Mora-Castilla; Alejandro Ocampo; Li Ma; Joanna Poulton; Xinjian Wang; Riffat Ahmed; Eunju Kang; Yeonmi Lee; Tomonari Hayama; Ying Li; Crystal Van Dyken; Nuria Marti Gutierrez; Rebecca Tippner-Hedges; Amy Koski; Nargiz Mitalipov; Paula Amato; Don P Wolf; Taosheng Huang; Andre Terzic; Louise C Laurent; Juan Carlos Izpisua Belmonte; Shoukhrat Mitalipov
Journal: Nature Date: 2015-07-15 Impact factor: 49.962

2. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes.

Authors: S K Bidooki; M A Johnson; Z Chrzanowska-Lightowlers; L A Bindoff; R N Lightowlers
Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025

Review 3. Mitochondrial disease in pregnancy: a systematic review.

Authors: R E Say; R G Whittaker; H E Turnbull; R McFarland; R W Taylor; D M Turnbull
Journal: Obstet Med Date: 2011-06-23

4. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

Authors: K Majamaa; J S Moilanen; S Uimonen; A M Remes; P I Salmela; M Kärppä; K A Majamaa-Voltti; H Rusanen; M Sorri; K J Peuhkurinen; I E Hassinen
Journal: Am J Hum Genet Date: 1998-08 Impact factor: 11.025

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

1. Metabolic rescue in pluripotent cells from patients with mtDNA disease.

2. Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes.

Review 3. Mitochondrial disease in pregnancy: a systematic review.

4. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

5. Mitochondrial DNA variants in the pathogenesis of type 2 diabetes - relevance of asian population studies.

6. Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.

Review 7. The Role of Mitochondria in Carcinogenesis.

8. ATF5, a putative therapeutic target for the mitochondrial DNA 3243A > G mutation-related disease.