Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions.

scientific article published on 28 April 2016

Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/SREP25186
P932PMC publication ID4848546
P698PubMed publication ID27122135

P50authorJoana DamasQ57340039
Mark A TarnopolskyQ89229965
Filipe PereiraQ46904492
P2093author name stringBrett A Kaufman
James L Martin
Frances R Belmonte
Kristin Frescura
P2860cites workDistribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathyQ72372563
Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensationQ73892405
Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscleQ74251272
Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?Q78468478
A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cellsQ80699747
Human embryonic stem cells commonly display large mitochondrial DNA deletionsQ85879628
Human mitochondrial DNA: roles of inherited and somatic mutationsQ37648855
Mitochondrial DNA rearrangements in health and disease--a comprehensive studyQ38151645
Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity.Q39580147
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.Q39681978
Cell-by-cell scanning of whole mitochondrial genomes in aged human heart reveals a significant fraction of myocytes with clonally expanded deletionsQ39730030
Droplet digital PCR technology promises new applications and research areasQ40187602
Mitochondrial DNA deletions in mice in men: substantia nigra is much less affected in the mouseQ41380092
Deletion mutagenesis during polymerase chain reaction: dependence on DNA polymeraseQ46439521
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndromeQ46963412
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.Q50357702
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease.Q50994607
Mitochondrial DNA mutations in human diseaseQ24676881
Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromesQ28301918
Mitochondrial respiratory-chain diseasesQ29614474
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson diseaseQ29619113
Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle.Q30317465
Mitochondrial DNA deletion mutations are concomitant with ragged red regions of individual, aged muscle fibers: analysis by laser-capture microdissectionQ30760899
Transient overexpression of mitochondrial transcription factor A (TFAM) is sufficient to stimulate mitochondrial DNA transcription, but not sufficient to increase mtDNA copy number in cultured cellsQ30841514
Molecular analyses of mtDNA deletion mutations in microdissected skeletal muscle fibers from aged rhesus monkeys.Q31114075
Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brainQ33796548
Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.Q33994112
Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletionsQ34107867
Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological studyQ34128925
Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints.Q34130008
Mitochondrial DNA deletions are associated with non-B DNA conformationsQ34278779
MitoBreak: the mitochondrial DNA breakpoints databaseQ34381089
Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscleQ34634671
Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expressionQ34707671
Skeletal muscle mitochondrial DNA deletions are not increased in CuZn-superoxide dismutase deficient mice.Q34902375
Techniques and Pitfalls in the Detection of Pathogenic Mitochondrial DNA MutationsQ35565985
Visualization of mitochondrial respiratory function using cytochrome c oxidase/succinate dehydrogenase (COX/SDH) double-labeling histochemistryQ35841506
Single-molecule PCR: an artifact-free PCR approach for the analysis of somatic mutationsQ36252221
Two-dimensional intact mitochondrial DNA agarose electrophoresis reveals the structural complexity of the mammalian mitochondrial genome.Q36619848
Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratoriesQ36762850
Simultaneous quantification of mitochondrial DNA copy number and deletion ratio: a multiplex real-time PCR assayQ36972506
The pathophysiology of mitochondrial disease as modeled in the mouseQ37287583
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.Q37325936
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P304page(s)25186
P577publication date2016-04-28
P1433published inScientific ReportsQ2261792
P1476titleDigital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions
P478volume6

Reverse relations

cites work (P2860)
Q95841103"Mitochondrial Toolbox" - A Review of Online Resources to Explore Mitochondrial Genomics
Q100750304A digital PCR system based on the thermal cycled chip with multi helix winding capillary
Q47224323Aggressive triple negative breast cancers have unique molecular signature on the basis of mitochondrial genetic and functional defects
Q93078192Analysis of Human Mitochondrial DNA Content by Southern Blotting and Nonradioactive Probe Hybridization
Q57809317Application of droplet digital PCR to detect the pathogens of infectious diseases
Q56349520Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells
Q45324708Detection of pseudorabies virus by duplex droplet digital PCR assay
Q38811014Digital PCR Quantitation of Muscle Mitochondrial DNA: Age, Fiber Type, and Mutation-Induced Changes.
Q57174224Droplet digital PCR shows the D-Loop to be an error prone locus for mitochondrial DNA copy number determination
Q98164387Exclusive use of digital PCR allows an absolute assay of heat-killed Lactobacilli in foods targeting multiple copies of 16S rDNA
Q48560989LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson's disease
Q48105064Recent Advances in Detecting Mitochondrial DNA Heteroplasmic Variations.
Q90104556Roles of the mitochondrial replisome in mitochondrial DNA deletion formation
Q64943976Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.
Q39090203Three-color crystal digital PCR.
Q58610274eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

Search more.