Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans. (Q34768360)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Sophie Monnot

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Agnès Rötig

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Jean-Paul Bonnefont

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Julie Steffann

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

8

Alexandra Benachi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

14

Nelly Frydman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1

Nadine Gigarel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

6

Violaine Kerbrat

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

7

Frédéric Lamazou

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

10

Josué Feingold

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

12

Arnold Munnich

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

author name string

Laetitia Hesters

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

Philippe Burlet

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

René Frydman

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

language of work or name

English

0 references

publication date

1 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

27 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

volume

88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

page(s)

494-498

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

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

27 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Mitochondrial DNA transmission, replication and inheritance: a journey from the gamete through the embryo and into offspring and embryonic stem cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

The role of mitochondrial DNA copy number in mammalian fertility.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Domains of high-polarized and low-polarized mitochondria may occur in mouse and human oocytes and early embryos

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Synthesis of mitochondrial DNA in permeabilised human cultured cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Preimplantation diagnosis of single gene disorders by two-step oocyte genetic analysis using first and second polar body

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

174th ENMC international workshop: Applying pre-implantation genetic diagnosis to mtDNA diseases: implications of scientific advances 19-21 March 2010, Naarden, The Netherlands.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Rapid protocol for pre-conception genetic diagnosis of single gene mutations by first polar body analysis: a possible solution for the Italian patients.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Single cell quantification of the 8993T>G NARP mitochondrial DNA mutation by fluorescent PCR

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Low oocyte mitochondrial DNA content in ovarian insufficiency.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Multiple rearrangements of mitochondrial DNA in unfertilized human oocytes.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Mitochondrial DNA content affects the fertilizability of human oocytes.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Quantification of mtDNA in single oocytes, polar bodies and subcellular components by real-time rapid cycle fluorescence monitored PCR.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Amplification of DNA sequences in polar bodies from human oocytes for diagnosis of mitochondrial disease.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Mitochondrial DNA rearrangements in human oocytes and embryos.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3071907

Mitochondrial DNA turnover occurs during preimplantation development and can be modulated by environmental factors

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21473984

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.03.010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21473984%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

PubMed publication ID

21473984

1 reference