mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases (Q35196481)

7 August 2017

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases (English)

1 reference

7 August 2017

C T Moraes

1

1 reference

7 August 2017

S Shanske

2

1 reference

7 August 2017

H J Tritschler

3

1 reference

7 August 2017

J R Aprille

4

1 reference

7 August 2017

F Andreetta

5

1 reference

7 August 2017

E Bonilla

6

1 reference

7 August 2017

E A Schon

7

1 reference

7 August 2017

S DiMauro

8

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 March 1991

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

48

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7 August 2017

492-501

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7 August 2017

3

1 reference

Sequence and gene organization of mouse mitochondrial DNA

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Sequence and organization of the human mitochondrial genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Complete sequence of bovine mitochondrial DNA. Conserved features of the mammalian mitochondrial genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Replication of animal mitochondrial DNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells. Quantitative isolation of mitochondrial deoxyribonucleic acid.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Synthesis of macromolecules in early mouse embryos cultured in vitro: RNA, DNA, and a polysaccharide component.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Length heterogeneity of a conserved displacement-loop sequence in human mitochondrial DNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

An established avian fibroblast cell line without mitochondrial DNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Mouse RNAase MRP RNA is encoded by a nuclear gene and contains a decamer sequence complementary to a conserved region of mitochondrial RNA substrate.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Cytochrome c oxidase deficiency in Leigh syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Duplications of mitochondrial DNA in mitochondrial myopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Biogenesis of mitochondria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Molecular analysis of cloned human 18S ribosomal DNA segments

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Characterization and Localization of the Human Genes for Ribosomal Ribonucleic Acid

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

A new estimate of human ribosomal gene number

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682992

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

15 November 2018

1 reference

12 December 2020

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS

1 reference

12 December 2020

On the number of ribosomal RNA genes in man

1 reference

12 December 2020

Quantitation of Human Ribosomal DNA: Hybridization of Human DNA with Ribosomal RNA for Quantitation and Fractionation

1 reference

12 December 2020

Number of mitochondria and some properties of mitochondrial DNA in the mouse egg

1 reference

12 December 2020

Program of early development in the mammal: synthesis of mitochondrial proteins during oogenesis and early embryogenesis in the mouse

1 reference

12 December 2020

Mitochondrial DNA copy number in bovine oocytes and somatic cells

1 reference

12 December 2020

Mitochondrial DNA in mortal and immortal human cells. Genome number, integrity, and methylation

1 reference

12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy

1 reference

12 December 2020

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

1 reference

12 December 2020

Identifiers

PMCID

1682992

1 reference

7 August 2017

1 reference