Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 123

1.

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.

Am J Hum Genet. 2008 Feb;82(2):333-43. doi: 10.1016/j.ajhg.2007.10.007.

2.

Transmitochondrial mice as models for primary prevention of diseases caused by mutation in the tRNA(Lys) gene.

Shimizu A, Mito T, Hayashi C, Ogasawara E, Koba R, Negishi I, Takenaga K, Nakada K, Hayashi J.

Proc Natl Acad Sci U S A. 2014 Feb 25;111(8):3104-9. doi: 10.1073/pnas.1318109111.

3.

Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes.

Procaccio V, Neckelmann N, Paquis-Flucklinger V, Bannwarth S, Jimenez R, Davila A, Poole JC, Wallace DC.

Mol Diagn Ther. 2006;10(6):381-9.

PMID:
17154655
4.
5.

Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA.

Lehtinen SK, Hance N, El Meziane A, Juhola MK, Juhola KM, Karhu R, Spelbrink JN, Holt IJ, Jacobs HT.

Genetics. 2000 Jan;154(1):363-80.

6.

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

Uusimaa J, Moilanen JS, Vainionpää L, Tapanainen P, Lindholm P, Nuutinen M, Löppönen T, Mäki-Torkko E, Rantala H, Majamaa K.

Ann Neurol. 2007 Sep;62(3):278-87.

PMID:
17823937
8.

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

Hammans SR, Sweeney MG, Brockington M, Lennox GG, Lawton NF, Kennedy CR, Morgan-Hughes JA, Harding AE.

Brain. 1993 Jun;116 ( Pt 3):617-32.

PMID:
8513395
9.

Tissue specific distribution of the 3243A->G mtDNA mutation.

Frederiksen AL, Andersen PH, Kyvik KO, Jeppesen TD, Vissing J, Schwartz M.

J Med Genet. 2006 Aug;43(8):671-7.

10.

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia.

Rubegni A, Cardaioli E, Chini E, Da Pozzo P, Battisti C, Malandrini A, Federico A.

J Neurol Sci. 2014 Mar 15;338(1-2):232-4. doi: 10.1016/j.jns.2014.01.010.

PMID:
24468540
11.

Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.

Choo-Kang AT, Lynn S, Taylor GA, Daly ME, Sihota SS, Wardell TM, Chinnery PF, Turnbull DM, Walker M.

Diabetes. 2002 Jul;51(7):2317-20.

12.

Metabolic rescue in pluripotent cells from patients with mtDNA disease.

Ma H, Folmes CD, Wu J, Morey R, Mora-Castilla S, Ocampo A, Ma L, Poulton J, Wang X, Ahmed R, Kang E, Lee Y, Hayama T, Li Y, Van Dyken C, Gutierrez NM, Tippner-Hedges R, Koski A, Mitalipov N, Amato P, Wolf DP, Huang T, Terzic A, Laurent LC, Izpisua Belmonte JC, Mitalipov S.

Nature. 2015 Aug 13;524(7564):234-8. doi: 10.1038/nature14546.

PMID:
26176921
13.

Mitochondrial respiratory dysfunction caused by a heteroplasmic mitochondrial DNA mutation blocks cellular reprogramming.

Yokota M, Hatakeyama H, Okabe S, Ono Y, Goto Y.

Hum Mol Genet. 2015 Aug 15;24(16):4698-709. doi: 10.1093/hmg/ddv201.

15.
16.

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

van Den Bosch BJ, de Coo RF, Scholte HR, Nijland JG, van Den Bogaard R, de Visser M, de Die-Smulders CE, Smeets HJ.

Nucleic Acids Res. 2000 Oct 15;28(20):E89.

17.

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation.

Pyle A, Taylor RW, Durham SE, Deschauer M, Schaefer AM, Samuels DC, Chinnery PF.

J Med Genet. 2007 Jan;44(1):69-74.

18.

Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.

Raap AK, Jahangir Tafrechi RS, van de Rijke FM, Pyle A, Wählby C, Szuhai K, Ravelli RB, de Coo RF, Rajasimha HK, Nilsson M, Chinnery PF, Samuels DC, Janssen GM.

PLoS One. 2012;7(12):e52080. doi: 10.1371/journal.pone.0052080.

20.

Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals.

Howell N, Ghosh SS, Fahy E, Bindoff LA.

J Neurol Sci. 2000 Jan 1;172(1):1-6.

PMID:
10620652
Items per page

Supplemental Content

Support Center