Results 271 to 280 of about 614,734 (318)
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DISEASES OF THE MITOCHONDRIAL DNA

Annual Review of Biochemistry, 1992
INTRODUCTION . . _ . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 175 THE HUMAN MITOCHONDRIAL DNA AND OXIDATIVE PHOSPHORYLATION 1176 Mitochondrial Biogenesis ... 1 176 Mitochondrial OXPHOS Complexes and their Synthesis 1 178 Developmental Regulation of Nuclear OXPHOS Genes ...
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Mitochondrial DNA mutators

Cellular and Molecular Life Sciences, 2004
In this article we review our current knowledge of the mechanisms by which point mutations arise in the mitochondrial DNA (mtDNA) of Saccharomyces cerevisiae and discuss to what extent these mechanisms operate in human mtDNA mutagenesis. The 3'-5' exonuclease proofreading activity of Pol gamma ensures accuracy of mtDNA replication in both yeast and ...
F, Foury, J, Hu, S, Vanderstraeten
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The evolution of mitochondrial DNA

Current Opinion in Genetics & Development, 1994
Although the massive sequencing of mitochondrial DNA from various organisms, together with studies of a different nature, has contributed enormously to the knowledge of the organization and function of this cytoplasmic genome, many issues, mainly the relationships with the nuclear genome, remain unsolved.
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Mitochondrial DNA Analysis

2023
Mitochondrial DNA (mtDNA) is a 16,569 base pair (bp) circular genome that is passed from generation to generation through the maternal line. mtDNA analysis in the context of the forensic science field usually involves unidentified human remains or missing persons. These cases tend to have more challenging sample types (e.g., rootless hairs, bone, blood,
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Mitochondrial DNA disorders

European Journal of Pediatrics, 2000
Over 100 pathogenic point mutations and 200 deletions, insertions, and rearrangements have been identified since the first mitochondrial DNA mutations were described in 1988. About 60% of the point mutations affect mitochondrial tRNAs, 35% affect polypeptide subunits of the respiratory chain, and 5% affect mitochondrial ribosomal RNAs.
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Mitochondrial DNA of Kinetoplastids

1992
Publisher Summary This chapter highlights mitochondrial DNA of kinetoplastids. Kinetoplast DNA (kDNA) is the unusual mitochondrial DNA characteristic of members of Kinetoplastida. This DNA has two distinctive general features—namely, (1) it comprises two classes of unrelated circular molecules, maxicircles and minicircles, and (2) in each cell these ...
K, Stuart, J E, Feagin
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Mitochondrial DNA polymorphism in mitochondrial myopathy

Human Genetics, 1988
In order to test the hypothesis that mitochondrial myopathy may be caused by mutation of the mitochondrial (mt) genome, restriction fragment length polymorphism in leucocyte mt DNA has been studied in 38 patients with mitochondrial myopathy, 44 of their unaffected matrilineal relatives, and 35 normal control subjects.
I J, Holt   +2 more
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DUPLICATIONS OF MITOCHONDRIAL DNA IN MITOCHONDRIAL MYOPATHY

The Lancet, 1989
Restriction enzyme analysis was done on total cellular DNA extracted from whole blood in two patients with mitochondrial myopathy and multisystem involvement and their families. The two patients had an abnormal mitochondrial genome with a large (about 8 kb) duplication present in several tissues.
J, Poulton, M E, Deadman, R M, Gardiner
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Mitochondrial Oxidative Stress and Mitochondrial DNA

Clinical Chemistry and Laboratory Medicine, 2003
Mitochondria produce reactive oxygen species (ROS) under physiological conditions in association with activity of the respiratory chain in aerobic ATP production. The production of ROS is essentially a function of O2 consumption. Hence, increased mitochondrial activity per se can be an oxidative stress to cells.
Dongchon, Kang, Naotaka, Hamasaki
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Mitochondrial DNA mutations and mitochondrial DNA depletion in breast cancer

Genes, Chromosomes and Cancer, 2006
AbstractSomatic mutations in mitochondrial DNA (mtDNA) have been demonstrated in various tumors, including breast cancer. However, it still remains unclear whether the alterations in mtDNA are related to the clinicopathological features and/or the prognosis in the breast cancer.
Ling-Ming, Tseng   +7 more
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