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Items: 1 to 20 of 47

1.

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES.

Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):605-10. Epub 2003 Jan 14.

2.

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA.

Am J Hum Genet. 2003 Jan;72(1):101-14. Epub 2002 Dec 9.

3.

Stochastic and genetic factors influence tissue-specific decline in ageing C. elegans.

Herndon LA, Schmeissner PJ, Dudaronek JM, Brown PA, Listner KM, Sakano Y, Paupard MC, Hall DH, Driscoll M.

Nature. 2002 Oct 24;419(6909):808-14.

PMID:
12397350
4.

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.

Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J, Schon EA, DiMauro S.

Am J Hum Genet. 2002 Sep;71(3):679-83. Epub 2002 Jul 31.

5.

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

He L, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM.

Nucleic Acids Res. 2002 Jul 15;30(14):e68.

6.

Germ-line mutations in nonsyndromic pheochromocytoma.

Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peçzkowska M, Szmigielski C, Eng C; Freiburg-Warsaw-Columbus Pheochromocytoma Study Group.

N Engl J Med. 2002 May 9;346(19):1459-66.

7.

Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues.

Nekhaeva E, Bodyak ND, Kraytsberg Y, McGrath SB, Van Orsouw NJ, Pluzhnikov A, Wei JY, Vijg J, Khrapko K.

Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5521-6. Epub 2002 Apr 9.

8.

Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.

Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N.

Am J Hum Genet. 2002 May;70(5):1152-71. Epub 2002 Apr 5. Erratum in: Am J Hum Genet 2002 Aug;71(2):448-9.

9.

A high frequency of mtDNA polymorphisms in HeLa cell sublines.

Herrnstadt C, Preston G, Andrews R, Chinnery P, Lightowlers RN, Turnbull DM, Kubacka I, Howell N.

Mutat Res. 2002 Apr 25;501(1-2):19-28.

PMID:
11934434
10.

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium.

Nat Genet. 2002 Apr;30(4):406-10. Epub 2002 Feb 25.

PMID:
11865300
11.

The Protein Information Resource: an integrated public resource of functional annotation of proteins.

Wu CH, Huang H, Arminski L, Castro-Alvear J, Chen Y, Hu ZZ, Ledley RS, Lewis KC, Mewes HW, Orcutt BC, Suzek BE, Tsugita A, Vinayaka CR, Yeh LS, Zhang J, Barker WC.

Nucleic Acids Res. 2002 Jan 1;30(1):35-7.

12.

Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees.

Heyer E, Zietkiewicz E, Rochowski A, Yotova V, Puymirat J, Labuda D.

Am J Hum Genet. 2001 Nov;69(5):1113-26. Epub 2001 Oct 1.

13.

Investigating stem cells in human colon by using methylation patterns.

Yatabe Y, Tavaré S, Shibata D.

Proc Natl Acad Sci U S A. 2001 Sep 11;98(19):10839-44. Epub 2001 Aug 21.

14.
15.

High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection.

Coller HA, Khrapko K, Bodyak ND, Nekhaeva E, Herrero-Jimenez P, Thilly WG.

Nat Genet. 2001 Jun;28(2):147-50.

PMID:
11381261
16.

Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.

Elson JL, Samuels DC, Turnbull DM, Chinnery PF.

Am J Hum Genet. 2001 Mar;68(3):802-6. Epub 2001 Feb 6.

17.

Why do we age?

Kirkwood TB, Austad SN.

Nature. 2000 Nov 9;408(6809):233-8. Review.

PMID:
11089980
18.

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G, Zeviani M.

Hum Mol Genet. 2000 Nov 1;9(18):2733-42.

PMID:
11063732
20.

Mitochondrial free radical generation, oxidative stress, and aging.

Cadenas E, Davies KJ.

Free Radic Biol Med. 2000 Aug;29(3-4):222-30. Review.

PMID:
11035250

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