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Results: 1 to 20 of 176

1.

Profiling the Mitochondrial Proteome of Leber's Hereditary Optic Neuropathy (LHON) in Thailand: Down-Regulation of Bioenergetics and Mitochondrial Protein Quality Control Pathways in Fibroblasts with the 11778G>A Mutation.

Tun AW, Chaiyarit S, Kaewsutthi S, Katanyoo W, Chuenkongkaew W, Kuwano M, Tomonaga T, Peerapittayamongkol C, Thongboonkerd V, Lertrit P.

PLoS One. 2014 Sep 12;9(9):e106779. doi: 10.1371/journal.pone.0106779. eCollection 2014.

PMID:
25215595
[PubMed - in process]
Free PMC Article
2.

Returning findings within longitudinal cohort studies: the 1958 birth cohort as an exemplar.

Wallace SE, Walker NM, Elliott J.

Emerg Themes Epidemiol. 2014 Aug 4;11:10. doi: 10.1186/1742-7622-11-10. eCollection 2014.

PMID:
25126104
[PubMed]
Free PMC Article
3.

Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints.

Dong DW, Pereira F, Barrett SP, Kolesar JE, Cao K, Damas J, Yatsunyk LA, Johnson FB, Kaufman BA.

BMC Genomics. 2014 Aug 13;15(1):677. doi: 10.1186/1471-2164-15-677.

PMID:
25124333
[PubMed - in process]
Free PMC Article
4.

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient.

Miller DK, Menezes MJ, Simons C, Riley LG, Cooper ST, Grimmond SM, Thorburn DR, Christodoulou J, Taft RJ.

PLoS One. 2014 Aug 12;9(8):e104879. doi: 10.1371/journal.pone.0104879. eCollection 2014.

PMID:
25118196
[PubMed - in process]
Free PMC Article
5.

Mitochondrial genomic variation associated with higher mitochondrial copy number: the Cache County Study on Memory Health and Aging.

Ridge PG, Maxwell TJ, Foutz SJ, Bailey MH, Corcoran CD, Tschanz JT, Norton MC, Munger RG, O'Brien E, Kerber RA, Cawthon RM, Kauwe JS.

BMC Bioinformatics. 2014;15 Suppl 7:S6. doi: 10.1186/1471-2105-15-S7-S6. Epub 2014 May 28.

PMID:
25077862
[PubMed - in process]
Free PMC Article
6.

An intronic open reading frame was released from one of group II introns in the mitochondrial genome of the haptophyte Chrysochromulina sp. NIES-1333.

Nishimura Y, Kamikawa R, Hashimoto T, Inagaki Y.

Mob Genet Elements. 2014 May 27;4:e29384. eCollection 2014.

PMID:
25054084
[PubMed]
Free PMC Article
7.

Mitogenomes of polar bodies and corresponding oocytes.

Gianoarli L, Luiselli D, Crivello AM, Lang M, Ferraretti AP, De Fanti S, Magli MC, Romeo G.

PLoS One. 2014 Jul 17;9(7):e102182. doi: 10.1371/journal.pone.0102182. eCollection 2014.

PMID:
25032828
[PubMed - in process]
Free PMC Article
8.

Transmission from centenarians to their offspring of mtDNA heteroplasmy revealed by ultra-deep sequencing.

Giuliani C, Barbieri C, Li M, Bucci L, Monti D, Passarino G, Luiselli D, Franceschi C, Stoneking M, Garagnani P.

Aging (Albany NY). 2014 Jun;6(6):454-67.

PMID:
25013208
[PubMed - in process]
Free PMC Article
9.

The changing epitome of species identification - DNA barcoding.

Ajmal Ali M, Gyulai G, Hidvégi N, Kerti B, Al Hemaid FM, Pandey AK, Lee J.

Saudi J Biol Sci. 2014 Jul;21(3):204-31. doi: 10.1016/j.sjbs.2014.03.003. Epub 2014 Mar 31. Review.

PMID:
24955007
[PubMed]
Free PMC Article
10.

Next-generation sequencing of RNA and DNA isolated from paired fresh-frozen and formalin-fixed paraffin-embedded samples of human cancer and normal tissue.

Hedegaard J, Thorsen K, Lund MK, Hein AM, Hamilton-Dutoit SJ, Vang S, Nordentoft I, Birkenkamp-Demtröder K, Kruhøffer M, Hager H, Knudsen B, Andersen CL, Sørensen KD, Pedersen JS, Ørntoft TF, Dyrskjøt L.

PLoS One. 2014 May 30;9(5):e98187. doi: 10.1371/journal.pone.0098187. eCollection 2014.

PMID:
24878701
[PubMed - in process]
Free PMC Article
11.

Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases.

Hudson G, Gomez-Duran A, Wilson IJ, Chinnery PF.

PLoS Genet. 2014 May 22;10(5):e1004369. doi: 10.1371/journal.pgen.1004369. eCollection 2014 May.

PMID:
24852434
[PubMed - in process]
Free PMC Article
12.

Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.

Park MH, Woo HM, Hong YB, Park JH, Yoon BR, Park JM, Yoo JH, Koo H, Chae JH, Chung KW, Choi BO, Koo SK.

Neurogenetics. 2014 Aug;15(3):171-82. doi: 10.1007/s10048-014-0405-1. Epub 2014 May 10.

PMID:
24816431
[PubMed - in process]
Free PMC Article
13.

Associations between GJB2, mitochondrial 12S rRNA, SLC26A4 mutations, and hearing loss among three ethnicities.

Du W, Wang Q, Zhu Y, Wang Y, Guo Y.

Biomed Res Int. 2014;2014:746838. doi: 10.1155/2014/746838. Epub 2014 Apr 2.

PMID:
24804242
[PubMed - in process]
Free PMC Article
14.

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.

Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS.

Neuromuscul Disord. 2014 Jun;24(6):533-6. doi: 10.1016/j.nmd.2014.03.011. Epub 2014 Apr 1.

PMID:
24792523
[PubMed - in process]
Free PMC Article
15.

Phylogeny and patterns of diversity of goat mtDNA haplogroup A revealed by resequencing complete mitogenomes.

Doro MG, Piras D, Leoni GG, Casu G, Vaccargiu S, Parracciani D, Naitana S, Pirastu M, Novelletto A.

PLoS One. 2014 Apr 24;9(4):e95969. doi: 10.1371/journal.pone.0095969. eCollection 2014.

PMID:
24763315
[PubMed - in process]
Free PMC Article
16.

Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle.

Campbell G, Krishnan KJ, Deschauer M, Taylor RW, Turnbull DM.

Hum Mol Genet. 2014 Sep 1;23(17):4612-20. doi: 10.1093/hmg/ddu176. Epub 2014 Apr 15.

PMID:
24740879
[PubMed - in process]
Free PMC Article
17.

Interference of Co-amplified nuclear mitochondrial DNA sequences on the determination of human mtDNA heteroplasmy by Using the SURVEYOR nuclease and the WAVE HS system.

Yen HC, Li SL, Hsu WC, Tang P.

PLoS One. 2014 Mar 24;9(3):e92817. doi: 10.1371/journal.pone.0092817. eCollection 2014.

PMID:
24664244
[PubMed - in process]
Free PMC Article
18.

Early Austronesians: into and out of Taiwan.

Ko AM, Chen CY, Fu Q, Delfin F, Li M, Chiu HL, Stoneking M, Ko YC.

Am J Hum Genet. 2014 Mar 6;94(3):426-36. doi: 10.1016/j.ajhg.2014.02.003.

PMID:
24607387
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The mitochondrial ATPase6 gene is more susceptible to mutation than the ATPase8 gene in breast cancer patients.

Ghaffarpour M, Mahdian R, Fereidooni F, Kamalidehghan B, Moazami N, Houshmand M.

Cancer Cell Int. 2014 Mar 3;14(1):21. doi: 10.1186/1475-2867-14-21.

PMID:
24588805
[PubMed]
Free PMC Article
20.

Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation.

Zhu Y, Huang S, Kang D, Han M, Wang G, Yuan Y, Su Y, Yuan H, Zhai S, Dai P.

BMC Genet. 2014 Feb 17;15:26. doi: 10.1186/1471-2156-15-26.

PMID:
24533451
[PubMed - indexed for MEDLINE]
Free PMC Article

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