ライフサイエンスコーパス: mitochondrial DNA mutation

1 in complex defects but no primary pathogenic mitochondrial DNA mutation.

2 with LHON carrying the homoplasmic 11778/ND4 mitochondrial DNA mutation.

3 rmine if the clinical features were due to a mitochondrial DNA mutation.

4 plasmic for the np 7445, deafness-associated mitochondrial DNA mutation.

5 model with an age-dependent accumulation of mitochondrial DNA mutations.

6 asts associated with the clonal expansion of mitochondrial DNA mutations.

7 to m.3460G>A, m.11778G>A, and m.14484T>C or mitochondrial DNA mutations.

8 phorylation defects due to either nuclear or mitochondrial DNA mutations.

9 s an approach to rescue defects arising from mitochondrial DNA mutations.

10 own to modulate the phenotypic expression of mitochondrial DNA mutations.

11 t of mitochondrial disorders associated with mitochondrial DNA mutations.

12 the greatest emphasis on diseases caused by mitochondrial DNA mutations.

13 everity and tissue specificity of pathogenic mitochondrial DNA mutations.

14 chondrial DNA leading to the accumulation of mitochondrial DNA mutations.

15 ersity of clinical disorders associated with mitochondrial DNA mutations.

16 n transport chain (ETC), transmitted through mitochondrial DNA mutations.

17 ell nucleus in determining the expression of mitochondrial DNA mutations.

18 ; dystonia was predominantly associated with mitochondrial DNA mutations.

19 evidence has shown that the accumulation of mitochondrial DNA mutations accelerates normal aging, le

20 Mitochondrial DNA mutations also may play an important r

21 ive of this study was to determine whether a mitochondrial DNA mutation and defective oxidative phosp

22 f mitochondrial protein oxidation, increased mitochondrial DNA mutations and deletions and mitochondr

23 the heterogeneous phenotypes associated with mitochondrial DNA mutations and establish a link between

24 Heteroplasmic levels of pathogenic mitochondrial DNA mutations are common amongst the gener

25 Whilst several mitochondrial DNA mutations are recurrent, the majority

26 y chain (RC) dysfunction in apoptosis, using mitochondrial DNA mutations as genetic models.

27 B.TK- cells and other wild-type cells and in mitochondrial DNA mutation-carrying human cell lines.

28 Novel pathogenic mitochondrial DNA mutations continue to be detected in d

29 Trends in genotype-phenotype correlations in mitochondrial DNA mutations continue to be developed; th

30 Pathogenic mitochondrial DNA mutations contribute to the generation

31 toxins, complex I nuclear DNA mutations, and mitochondrial DNA mutations could be systematically anal

32 In farm animals, mitochondrial DNA mutations exist widely across breeds a

33 The specific consequences of mitochondrial DNA mutations for neuronal pathophysiology

34 cing tool for the reliable identification of mitochondrial DNA mutations from primary tumors in clini

35 he G34A anticodon mutation of hmt-tRNA(Phe) (mitochondrial DNA mutation G611A), which is associated w

36 The study of pathogenic mitochondrial DNA mutations has, in most cases, relied o

37 Dozens of mitochondrial DNA mutations have been associated with ne

38 In addition to inherited defects, somatic mitochondrial DNA mutations have been implicated in the

39 Mitochondrial DNA mutations have been linked to seizures

40 sis of inherited metabolic disease caused by mitochondrial DNA mutations have yet to translate into t

41 We describe a new mitochondrial DNA mutation in the cytochrome b gene in a

42 racterized a mouse cell line, 4A, carrying a mitochondrial DNA mutation in the subunit for respirator

43 determine the frequency and distribution of mitochondrial DNA mutations in breast cancer, 18 primary

44 Eight years after the first description of mitochondrial DNA mutations in neuromuscular syndromes,

45 the pathogenic effects of elevated levels of mitochondrial DNA mutations in specific tissues.

46 he in vivo cellular impact of age-associated mitochondrial DNA mutations is unknown.

47 The mitochondrial DNA mutation m.1555A>G predisposes to hear

48 er's hereditary optic neuropathy who carry a mitochondrial DNA mutation may indicate that mitochondri

49 se models, suggest that accumulating somatic mitochondrial DNA mutations may cause the phenotypic cha

50 result of the clonal expansion of secondary mitochondrial DNA mutations modulating the phenotype, dr

51 of the young (MODY) phenotype in humans and mitochondrial DNA mutations of FoF1 ATPase components th

52 dTTP pool alterations did not cause specific mitochondrial DNA mutations or deletions when 6-month-ol

53 esent but inconsistent, without identifiable mitochondrial DNA mutations or deletions.

54 A severe challenge to the idea that mitochondrial DNA mutations play a major role in the agi

55 spiratory chain deficiency without causative mitochondrial DNA mutations, rearrangements or depletion

56 tating conditions resulting from nuclear and mitochondrial DNA mutations that affect multiple organs,

57 ial; we posit that lipid peroxidation causes mitochondrial DNA mutations that increase reduced oxygen

58 In cells carrying patient-derived mitochondrial DNA mutations, the xCT antiporter is upreg

59 ugh initially recognized in association with mitochondrial DNA mutations, there is progress in the mo

60 Mitochondrial DNA mutations transmitted maternally withi

61 ecently showed that germline transmission of mitochondrial DNA mutations via the oocyte cause aggrava

62 The m.3243A > G mitochondrial DNA mutation was originally described in p

63 he hypothesis of accumulation of age-related mitochondrial DNA mutations which partly encode for subu

64 irst, Akt may stabilize cells with extensive mitochondrial DNA mutation, which can generate ROS.

65 was modified and applied to the detection of mitochondrial DNA mutations with low heteroplasmy.