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

1 ey have focused on the frequency of a single mitochondrial DNA deletion.

2 ect repeats flank two-thirds of the reported mitochondrial DNA deletions.

3 nal ophthalmoplegia associated with multiple mitochondrial DNA deletions.

4 Seventy-eight patients (67%) had a single mitochondrial DNA deletion, 12 (10%) had a point mutatio

5 ignificantly lower in patients with a single mitochondrial DNA deletion (2%) as compared to those wit

6 confounded by any age-dependent increases in mitochondrial DNA deletions also detected by the long po

7 the respiratory chain defects, secondary to mitochondrial DNA deletion and depletion, are likely to

8 complexes I and IV due to clonally-expanded mitochondrial DNA deletions and a significant reduction

9 The results show that mitochondrial DNA deletions and cytochrome c oxidase-def

10 nuclear DNA defects and single, large-scale mitochondrial DNA deletions and is less frequently assoc

11 d an additional, progressive accumulation of mitochondrial DNA deletions and point mutations accompan

12 Mitochondrial DNA deletions and point mutations accumula

13 etic testing identified sporadic large-scale mitochondrial DNA deletions and variants in MT-TL1, MT-A

14 sma thiobarbituric acid-reactive substances, mitochondrial DNA deletions, and renal expression of fib

15 Mitochondrial DNA deletions are prominent in human genet

16 ALAS2) gene cause microcytic anemia, whereas mitochondrial DNA deletions are responsible for Pearsons

17 pathway may play a role in the generation of mitochondrial DNA deletions associated with a number of

18 se proximity (within 20 base pairs) to known mitochondrial DNA deletion breakpoints.

19 hy is a rare finding in patients with single mitochondrial DNA deletions but that it is highly predic

20 tochrome-c oxidase-deficient fibers revealed mitochondrial DNA deletions, consistent with damage from

21 spiration-deficient cells (rho(-)) harboring mitochondrial DNA deletion exhibit dependency on glycoly

22 The multiple mitochondrial DNA deletions found in skeletal muscle rev

23 source in vitro can induce the formation of mitochondrial DNA deletions in a PCR detection assay.

24 sent the third most common cause of multiple mitochondrial DNA deletions in adults, following POLG [p

25 ther POLG, C10orf2 or RRM2B, or had multiple mitochondrial DNA deletions in muscle without an identif

26 Eleven patients showed multiple mitochondrial DNA deletions in skeletal muscle and 67% s

27 thalmoplegia either with or without multiple mitochondrial DNA deletions in skeletal muscle.

28 ve addressed the question of the spectrum of mitochondrial DNA deletions in skin and whether this can

29 rome c oxidase-deficient fibres and multiple mitochondrial DNA deletions in the majority of patients

30 hrome c oxidase-negative fibres and multiple mitochondrial DNA deletions in the muscle of patients wi

31 h increased mitochondrial protein carbonyls, mitochondrial DNA deletions, increased autophagy and sig

32 eurons show increased mitochondrial defects, mitochondrial DNA deletion levels, and susceptibility to

33 mental mitochondrial abnormalities contained mitochondrial DNA deletion mutations as revealed by lase

34 We hypothesized that mitochondrial DNA deletion mutations contribute to the f

35 ata suggest a causal role for age-associated mitochondrial DNA deletion mutations in sarcopenia.

36 G), which leads to the formation of multiple mitochondrial DNA deletions over time, similar to aging

37 is, glomerular basement membrane thickening, mitochondrial DNA deletions, reduction of nerve conducti

38 se chain reaction technique to determine the mitochondrial DNA deletion spectrum of almost the entire

39 Nonchromosomal stripe (NCS) mutants carry mitochondrial DNA deletions that affect subunits of resp

40 hort of 87 patients with single, large-scale mitochondrial DNA deletions we demonstrate that a variet

41 Multiple mitochondrial DNA deletions were seen by long polymerase

42 Multiple mitochondrial DNA deletions were universally present in

43 nal ophthalmoplegia associated with multiple mitochondrial DNA deletions, whereas recessive SLC25A4 m