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Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report

Song WJ, Lee YJ, Kang JW, Chang MY, Song KS, Kang DY, Kim SZ

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder of which m.3243A>G is the most commonly associated mutation, resulting in an inability to meet...
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Mitochondrial DNA Analysis of the Human Skeletons from Goryeo Dynasty Graves Discovered at Youngwol, Gangwon-do

Oh CS, Hong JH, Shin DH

In archaeological excavation sites in Korea, human skeletal remains of various periods were discovered. However, there have been very few studies on skeletal cases of Goryeo period so far. Therefore,...
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The Author Reply: Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions

Lee YM

No abstract available.
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Mitochondrial Ophthalmoplegia Is Not Only due to mtDNA Deletions

Finsterer

No abstract available.
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Alteration of mitochondrial DNA content modulates antioxidant enzyme expressions and oxidative stress in myoblasts

Min KH, Lee W

Mitochondrial dysfunction is closely associated with reactive oxygen species (ROS) generation and oxidative stress in cells. On the other hand, modulation of the cellular antioxidant defense system by changes in...
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Mitochondrial DNA Sequence Variability of Spirometra Species in Asian Countries

Jeon HK, Eom KS

Mitochondrial DNA sequence variability of Spirometra erinaceieuropaei in GenBank was observed by reinvestigation of mitochondrial cox1 and cytb sequences. The DNA sequences were analyzed in this study, comprising complete DNA...
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Leigh Syndrome: Subgroup Aanalysis according to Mitochondrial DNA Mutation

Jee NL, Her SM, Kim SH, Lee MJ, Lee CH, Lee YM

PURPOSE: Leigh syndrome (LS) is a rare, progressive neurodegenerative disorder with characteristic abnormalities in the central nervous system. Such patients present with heterogeneous clinical symptoms and genetic abnormalities; thus, prognosis...
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Detection of Innate and Artificial Mitochondrial DNA Heteroplasmy by Massively Parallel Sequencing: Considerations for Analysis

Kim MY, Cho S, Lee JH, Seo HJ, Lee SD

BACKGROUND: Mitochondrial heteroplasmy, the co-existence of different mitochondrial polymorphisms within an individual, has various forensic and clinical implications. But there is still no guideline on the application of massively parallel...
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Association between Salivary Mitochondrial DNA Copy Number and Chronic Fatigue according to Combined Symptoms in Korean Adults

Shin J, Kim KC, Lee DC, Lee HR, Shim JY

BACKGROUND: We examined the association between salivary mitochondrial DNA (mtDNA) copy number and chronic fatigue combined with depression and insomnia. METHODS: This cross-sectional study included 58 healthy adults with moderate to...
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Analysis of Nuclear Mitochondrial DNA Segments of Nine Plant Species: Size, Distribution, and Insertion Loci

Ko YJ, Kim S

Nuclear mitochondrial DNA segment (Numt) insertion describes a well-known phenomenon of mitochondrial DNA transfer into a eukaryotic nuclear genome. However, it has not been well understood, especially in plants. Numt...
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Genetic Associations of Mitochondrial DNA Polymorphisms with Behcet's Disease in a Korean Population: A Pilot Study

Kwon MH, Joung CI

OBJECTIVE: Pathogenesis of Behcet's disease (BD) is known to be multifactorial and accumulating data suggest genetic mechanisms. Variations in nuclear DNAs have been largely investigated, while studies on mitochondrial DNAs...
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Association between Leukocyte Mitochondrial DNA Copy Number and Regular Exercise in Postmenopausal Women

Chang YK, Kim DE, Cho SH, Kim JH

BACKGROUND: Previous studies suggest that habitual exercise can improve skeletal mitochondrial function; however, to date, the association between exercise and mitochondrial function in peripheral leukocytes has not been reported. The...
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Equol Production and Increased Leukocyte Mitochondrial DNA in Postmenopausal Women

Ahn J, Baek S, Kim K, Bang H, Ko J, Kim JH

BACKGROUND: Equol, a metabolite of diadzein, is produced by some intestinal bacteria. Equol acts as an estrogen receptor agonist and has been reported to have several beneficial health effects. Leukocytes...
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Effects of chronic alcohol and excessive iron intake on mitochondrial DNA damage in the rat liver

Park JE, Lee JR, Chung J

PURPOSE: In this study, we investigated the effects of chronic alcohol and excessive iron intake on mitochondrial DNA (mtDNA) damage and the progression of alcoholic liver injury in rats. METHODS: Twenty-four...
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Searching for Appropriate Statistical Parameters for Validation of Mitochondrial DNA Database

Choung CM, Lee JH, Cho S, Lee SD

Recently, studies on mitochondrial DNA (mtDNA) have increased rapidly. Conventional parameters, such as diversity index, pairwise comparison, are used to interpret and validate data on autosomal DNA; however, the use...
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Rapid and Simple Screening of Mitochondrial DNA in Koreans by the Analysis of Highly Variable Control Region SNPs

Kim EH, Shin KJ, Kim HY, Park SJ, Yang WI, Lee HY

Human mitochondrial DNA (mtDNA) is generally used to identify highly degraded forensic samples, particularly when the extracted DNA is not sufficient for nuclear DNA analysis. However, direct sequencing, the most...
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Identification Blow Fly Species in Korea by Mitochondrial DNA 'Barcodes'

Zhang Y, Park SH, Yu DH, Yu GY, Jung HJ, Jo TH, Hwang JJ

  • KMID: 2082687
  • Korean J Leg Med.
  • 2007 May;31(1):51-58.
Recently many forensic scientists are trying to use the DNA 'barcode' region (upstream portion of mitochondrial cytochrome oxidase subunit I) to identify the species of forensically important fly species. We have...
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Unusual mtDNA sequencing results from ancient DNA

Seo SB, Choung CM, Zhang A, Jang BS, Yoo SH, Lee SD

  • KMID: 2082684
  • Korean J Leg Med.
  • 2007 May;31(1):36-40.
Sequence analysis of human mitochondrial DNA(mtDNA) is being used widely to characterize individual identification, particularly when there is insufficient nuclear DNA in samples for typing. Hair shafts, bones, teeth and other...
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Kearns-Sayre Syndrome with a Large Deletion in Mitochondrial DNA

Kim SH, Hwang JH, Chung KW, Kim HJ, Kim JY, Park KD, Sunwoo IN, Choi BO

  • KMID: 1572460
  • J Korean Neurol Assoc.
  • 2006 Jun;24(3):260-264.
Mitochondrial DNA (mtDNA) deletions have been found in a majority of patients with Kearns-Sayre syndrome (KSS). The proband, a 14-year-old male, presented with retinitis pigmentosa, bilateral ptosis with an external...
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Mitochondrial DNA Copy Number in the Patients of Korean Polycystic Ovary Syndrome (PCOS)

Park JE, Jang MH, Cho SW, Kim YS, Won HJ, Cho JH, Baek KH, Lee SH

  • KMID: 1979174
  • Korean J Fertil Steril.
  • 2006 Dec;33(4):245-251.
OBJECTIVE: We analyzed quantification of mitochondria DNA (mtDNA) to investigate the relationship of mitochondria and pathogenesis of PCOS. MATERIALS AND METHODS: Peripheral blood samples were collected from 28 patients with PCOS...
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