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

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

7 ; dystonia was predominantly associated with mitochondrial DNA mutations.

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

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

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

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

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

13 t of mitochondrial disorders associated with mitochondrial DNA mutations.

14 everity and tissue specificity of pathogenic mitochondrial DNA mutations.

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

16 ersity of clinical disorders associated with mitochondrial DNA mutations.

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

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

19 dopaminergic neurons, leading to accelerated mitochondrial DNA mutations.

20 t in muscle phenotype and an accumulation of mitochondrial DNA mutations.

21 iotropic effects and is frequently caused by mitochondrial DNA mutations.

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

23 Mitochondrial DNA mutations also may play an important r

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

25 A>G variant is the most common heteroplasmic mitochondrial DNA mutation and underlies a spectrum of d

26 Subjects with the m.11778G>A mitochondrial DNA mutation and vision loss 6 months from

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

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

29 Brca1KO(smi) mice accumulated mitochondrial DNA mutations and exhibited an altered mit

30 rons is able to adapt to the accumulation of mitochondrial DNA mutations and maintain motor control.

31 ontrary to earlier theories linking aging to mitochondrial DNA mutations and oxidative damage, curren

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

33 Whilst several mitochondrial DNA mutations are recurrent, the majority

34 nomic readouts, including leveraging somatic mitochondrial DNA mutations as clonal markers that can r

35 ltiomic maps of ex vivo NK cells and somatic mitochondrial DNA mutations as endogenous barcodes, we r

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

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

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

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

40 Pathogenic mitochondrial DNA mutations contribute to the generation

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

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

43 The specific consequences of mitochondrial DNA mutations for neuronal pathophysiology

44 We find evidence of cryptic mitochondrial DNA mutations from diverse single-cell dat

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

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

47 eyes (LHON group) with different pathogenic mitochondrial DNA mutations (group 11778: 21 eyes; group

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

49 Dozens of mitochondrial DNA mutations have been associated with ne

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

51 Mitochondrial DNA mutations have been linked to seizures

52 Diseases caused by heteroplasmic mitochondrial DNA mutations have no effective treatment

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

54 s associated with the homoplasmic m.14674T>C mitochondrial DNA mutation; however, only ~ 1/100 carrie

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

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

57 ic mutations constitute the vast majority of mitochondrial DNA mutations in aged post-mitotic tissues

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

59 and colleagues reported a connection between mitochondrial DNA mutations in cancer cells and their re

60 ns of correcting disease-causing nuclear and mitochondrial DNA mutations in gametes or preimplantatio

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

62 er premature aging caused by accumulation of mitochondrial DNA mutations in Polg(D275A) mice predispo

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

64 en supported by the detection of nonspecific mitochondrial DNA mutations in these disorders.

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

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

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

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

69 skeletal muscle function and that increased mitochondrial DNA mutations may represent a potential un

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

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

72 iting enzymes, designed to target pathogenic mitochondrial DNA mutations (often heteroplasmic), the s

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

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

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

76 Somatically acquired mitochondrial DNA mutations predispose to elevated subch

77 and mouse-models with artificially enhanced mitochondrial DNA mutation rates show accelerated ageing

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

79 ns poorly covered by WES, RNA-gene variants, mitochondrial-DNA mutations, small copy-number variants,

80 rial disorders are the result of nuclear and mitochondrial DNA mutations that affect multiple organs,

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

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

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

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

85 ull mouse and combined it with the ND6(P25L) mitochondrial DNA mutation to mimic the hypertrophic ver

86 essibility (scATAC sequencing) together with mitochondrial DNA mutations to define subclonal architec

87 Mitochondrial DNA mutations transmitted maternally withi

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

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

90 ate analyses, is the accumulation of somatic mitochondrial DNA mutations which are unique to single c

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

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

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

94 sed on deep detection of naturally occurring mitochondrial DNA mutations with simultaneous readout of