(Q39681978)

13 September 2017

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. (English)

1 reference

13 September 2017

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4

Emma L Blakely

1 reference

13 September 2017

2

Patrick F Chinnery

1 reference

13 September 2017

Robert William Taylor

7

object named as

Robert W Taylor

1 reference

Douglass Matthew Turnbull

13 September 2017

8

object named as

Douglass M Turnbull

1 reference

13 September 2017

6

Gillian M Borthwick

1 reference

13 September 2017

Langping He

1

1 reference

13 September 2017

Steve E Durham

3

1 reference

13 September 2017

Theresa M Wardell

5

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13 September 2017

language of work or name

English

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publication date

1 July 2002

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13 September 2017

Nucleic Acids Research

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13 September 2017

30

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13 September 2017

14

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13 September 2017

e68

1 reference

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

13 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Role of adenine nucleotide translocator 1 in mtDNA maintenance

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Mitochondrial DNA repair pathways.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Mitochondrial DNA and disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Mitochondrial DNA--all things bad?

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Mitochondrial diseases in man and mouse

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Kinetic PCR Analysis: Real-time Monitoring of DNA Amplification Reactions

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Sequence and organization of the human mitochondrial genome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

The absence of a pyrimidine dimer repair mechanism in mammalian mitochondria

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Do mitochondrial DNA fragments promote cancer and aging?

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=135769

Quantification of the 4977-bp deletion in human mitochondrial DNA using real-time PCR

21 August 2018

1 reference

12 December 2020

Mitochondrial encephalomyopathies: gene mutation

1 reference

12 December 2020

Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases

1 reference

12 December 2020

Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration

1 reference

12 December 2020

Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients

1 reference

12 December 2020

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

1 reference

12 December 2020

Accumulation of deletions in MtDNA during tissue aging: analysis by long PCR

1 reference

12 December 2020

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients

1 reference

12 December 2020

Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR

1 reference

12 December 2020

Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia

1 reference

12 December 2020

Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/GNF067

1 reference

13 September 2017

1 reference

13 September 2017

PubMed publication ID

12136116

1 reference