mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development (Q38293604)

1 September 2017

1 reference

title

mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development (English)

1 reference

1 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25523230%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25523230%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25523230%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

J Steffann

1 reference

1 September 2017

S Monnot

series ordinal

1 reference

1 September 2017

J-P Bonnefont

series ordinal

1 reference

1 September 2017

publication date

19 December 2014

1 reference

1 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25523230%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25523230%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25523230%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

416-424

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25523230%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial DNA mutations in human disease

12 June 2020

cites work

1 reference

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options

21 January 2018

1 reference

Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood

21 January 2018

1 reference

Data from artificial models of mitochondrial DNA disorders are not always applicable to humans

21 January 2018

1 reference

The role of mitochondrial function in the oocyte and embryo

21 January 2018

1 reference

Metabolic control during preimplantation mammalian development

21 January 2018

1 reference

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

21 January 2018

1 reference

Mitochondrial morphology during preimplantational human embryogenesis

21 January 2018

1 reference

Role of the mitochondrial genome during early development in mice. Effects of ethidium bromide and chloramphenicol

21 January 2018

1 reference

Variations in mouse mitochondrial DNA copy number from fertilization to birth are associated with oxidative stress.

21 January 2018

1 reference

The bottleneck: mitochondrial imperatives in oogenesis and ovarian follicular fate

21 January 2018

1 reference

Mitochondrial function in the human oocyte and embryo and their role in developmental competence

21 January 2018

1 reference

Mitochondrial DNA variations in ova and blastocyst: implications in assisted reproduction

21 January 2018

1 reference

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

21 January 2018

1 reference

Regulated mitochondrial DNA replication during oocyte maturation is essential for successful porcine embryonic development

21 January 2018

1 reference

Increase of mitochondrial DNA content and transcripts in early bovine embryogenesis associated with upregulation of mtTFA and NRF1 transcription factors

21 January 2018

1 reference

Comparison of mitochondrial DNA contents in human embryos with good or poor morphology at the 8-cell stage.

21 January 2018

1 reference

Embryo mitochondrial DNA depletion is reversed during early embryogenesis in cattle

21 January 2018

1 reference

Mitochondrial DNA copy number is regulated in a tissue specific manner by DNA methylation of the nuclear-encoded DNA polymerase gamma A

21 January 2018

1 reference

Molecular control of mitochondrial function in preimplantation mouse embryos.

21 January 2018

1 reference

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development

21 January 2018

1 reference

Mitochondrial respiratory chain complex assembly and function during human fetal development.

21 January 2018

1 reference

Heart mitochondrial DNA and enzyme changes during early human development.

21 January 2018

1 reference

Contrasting effects of in vitro fertilization and nuclear transfer on the expression of mtDNA replication factors

21 January 2018

1 reference

Biased inheritance of mitochondria during asymmetric cell division in the mouse oocyte

21 January 2018

1 reference

Differential mitochondrial distribution in human pronuclear embryos leads to disproportionate inheritance between blastomeres: relationship to microtubular organization, ATP content and competence

21 January 2018

1 reference

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

21 January 2018

1 reference

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

21 January 2018

1 reference

The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells

21 January 2018

1 reference

New evidence confirms that the mitochondrial bottleneck is generated without reduction of mitochondrial DNA content in early primordial germ cells of mice

21 January 2018

1 reference

The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes

21 January 2018

1 reference

Mitochondrial respiratory-chain diseases

21 January 2018

1 reference

Deletion-mutant mtDNA increases in somatic tissues but decreases in female germ cells with age.

21 January 2018

1 reference

Strong purifying selection in transmission of mammalian mitochondrial DNA

21 January 2018

1 reference

A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations

21 January 2018

1 reference

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission

21 January 2018

1 reference

Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children

21 January 2018

1 reference

Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes

21 January 2018

1 reference

Random genetic drift determines the level of mutant mtDNA in human primary oocytes

21 January 2018

1 reference

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

21 January 2018

1 reference

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system

21 January 2018

1 reference

Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

21 January 2018

1 reference

Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder

21 January 2018

1 reference

Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases

21 January 2018

1 reference

Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans.

21 January 2018

1 reference

A systematic analysis of the suitability of preimplantation genetic diagnosis for mitochondrial diseases in a heteroplasmic mitochondrial mouse model.

21 January 2018

1 reference

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

21 January 2018

1 reference

Rapid mitochondrial DNA segregation in primate preimplantation embryos precedes somatic and germline bottleneck

21 January 2018

1 reference

Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

21 January 2018

1 reference

Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases.

21 January 2018

1 reference

Information for genetic management of mtDNA disease: sampling pathogenic mtDNA mutants in the human germline and in placenta.

21 January 2018

1 reference

Mitochondrial DNA content affects the fertilizability of human oocytes

21 January 2018

1 reference

Ooplasmic transfer in mature human oocytes

21 January 2018

1 reference

Mitochondria in human offspring derived from ooplasmic transplantation

21 January 2018

1 reference

Morphological-cytochemical and molecular genetic analyses of mitochondria in isolated human oocytes in the reproductive age

21 January 2018

1 reference

The association of reproductive senescence with mitochondrial quantity, function, and DNA integrity in human oocytes at different stages of maturation.

21 January 2018

1 reference

The role of mitochondrial DNA copy number in mammalian fertility.

21 January 2018

1 reference

Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation

21 January 2018

1 reference

Mitochondrial DNA rearrangements in human oocytes and embryos

21 January 2018

1 reference

Mitochondrial DNA point mutation in human oocytes is associated with maternal age.

21 January 2018

1 reference

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes

21 January 2018

1 reference

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

21 January 2018

1 reference

Towards germline gene therapy of inherited mitochondrial diseases

21 January 2018

1 reference

Polar body genome transfer for preventing the transmission of inherited mitochondrial diseases

21 January 2018

1 reference

Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants

21 January 2018

1 reference

Mitochondrial DNA haplotypes define gene expression patterns in pluripotent and differentiating embryonic stem cells.

21 January 2018

1 reference

Mitochondrial DNA modifies cognition in interaction with the nuclear genome and age in mice

21 January 2018

1 reference

Neutral mitochondrial heteroplasmy alters physiological function in mice

21 January 2018

1 reference

Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition

21 January 2018

1 reference

Characterization of mitochondrial replication and transcription control during rat early development in vivo and in vitro

21 January 2018

1 reference

Molecular control of mitochondrial function in developing rhesus monkey oocytes and preimplantation-stage embryos

21 January 2018

1 reference

Cryopreservation of metaphase II human oocytes effects mitochondrial membrane potential: implications for developmental competence

21 January 2018

1 reference

In vitro-matured rat oocytes have low mitochondrial deoxyribonucleic acid and adenosine triphosphate contents and have abnormal mitochondrial redistribution

21 January 2018

1 reference

Risk of developing a mitochondrial DNA deletion disorder

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12557

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25523230%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25523230%20AND%20SRC:MED&resulttype=core&format=json