Samuels DC - Search Results

1

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

Gigarel N, Hesters L, Samuels DC, Monnot S, Burlet P, Kerbrat V, Lamazou F, Benachi A, Frydman R, Feingold J, Rotig A, Munnich A, Bonnefont JP, Frydman N, Steffann J. Gigarel N, et al. Among authors: samuels dc. Am J Hum Genet. 2011 Apr 8;88(4):494-8. doi: 10.1016/j.ajhg.2011.03.010. Am J Hum Genet. 2011. PMID: 21473984 Free PMC article.

2

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

Monnot S, Samuels DC, Hesters L, Frydman N, Gigarel N, Burlet P, Kerbrat V, Lamazou F, Frydman R, Benachi A, Feingold J, Rotig A, Munnich A, Bonnefont JP, Steffann J. Monnot S, et al. Among authors: samuels dc. Hum Mol Genet. 2013 May 1;22(9):1867-72. doi: 10.1093/hmg/ddt040. Epub 2013 Feb 5. Hum Mol Genet. 2013. PMID: 23390135

3

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

Steffann J, Gigarel N, Samuels DC, Monnot S, Borghese R, Hesters L, Frydman N, Burlet P, Frydman R, Benachi A, Rotig A, Munnich A, Bonnefont JP. Steffann J, et al. Among authors: samuels dc. Cell Rep. 2014 May 22;7(4):933-4. doi: 10.1016/j.celrep.2014.05.005. Cell Rep. 2014. PMID: 24856293 Free article. No abstract available.

4

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

Monnot S, Gigarel N, Samuels DC, Burlet P, Hesters L, Frydman N, Frydman R, Kerbrat V, Funalot B, Martinovic J, Benachi A, Feingold J, Munnich A, Bonnefont JP, Steffann J. Monnot S, et al. Among authors: samuels dc. Hum Mutat. 2011 Jan;32(1):116-25. doi: 10.1002/humu.21417. Hum Mutat. 2011. PMID: 21120938 Free PMC article.

5

Pathogenic mitochondrial DNA mutations are common in the general population.

Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF. Elliott HR, et al. Among authors: samuels dc. Am J Hum Genet. 2008 Aug;83(2):254-60. doi: 10.1016/j.ajhg.2008.07.004. Am J Hum Genet. 2008. PMID: 18674747 Free PMC article.

6

Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.

Durham SE, Samuels DC, Cree LM, Chinnery PF. Durham SE, et al. Among authors: samuels dc. Am J Hum Genet. 2007 Jul;81(1):189-95. doi: 10.1086/518901. Epub 2007 May 23. Am J Hum Genet. 2007. PMID: 17564976 Free PMC article.

7

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

Brown DT, Samuels DC, Michael EM, Turnbull DM, Chinnery PF. Brown DT, et al. Among authors: samuels dc. Am J Hum Genet. 2001 Feb;68(2):533-6. doi: 10.1086/318190. Epub 2000 Dec 29. Am J Hum Genet. 2001. PMID: 11133360 Free PMC article.

8

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

Rajasimha HK, Chinnery PF, Samuels DC. Rajasimha HK, et al. Among authors: samuels dc. Am J Hum Genet. 2008 Feb;82(2):333-43. doi: 10.1016/j.ajhg.2007.10.007. Am J Hum Genet. 2008. PMID: 18252214 Free PMC article.

9

The distribution of mitochondrial DNA heteroplasmy due to random genetic drift.

Wonnapinij P, Chinnery PF, Samuels DC. Wonnapinij P, et al. Among authors: samuels dc. Am J Hum Genet. 2008 Nov;83(5):582-93. doi: 10.1016/j.ajhg.2008.10.007. Epub 2008 Oct 30. Am J Hum Genet. 2008. PMID: 18976726 Free PMC article.

10

Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans.

Wonnapinij P, Chinnery PF, Samuels DC. Wonnapinij P, et al. Among authors: samuels dc. Am J Hum Genet. 2010 Apr 9;86(4):540-50. doi: 10.1016/j.ajhg.2010.02.023. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362273 Free PMC article.

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