ライフサイエンスコーパス: homoplasmic

1 ion that plant mitochondrial populations are homoplasmic.

2 conventional wisdom--these mutations can be homoplasmic.

3 conventional wisdom - these mutations can be homoplasmic.

4 e mutation has subsequently been shown to be homoplasmic.

5 a Brazilian pedigree with LHON carrying the homoplasmic 11778/ND4 mitochondrial DNA mutation.

6 in steady-state mt-tRNA(Val) observed in the homoplasmic 1624C>T-cell lines is caused by a rapid degr

7 NT) enabled replacement of mutant mtDNA from homoplasmic 8993T>G fibroblasts to generate corrected Le

8 Of other variants, the homoplasmic A15951G mutation is of special interest as i

9 patial differentiation will be identical for homoplasmic and heteroplasmic conditions.

10 rmal tissues, cancer cells harboured further homoplasmic and heteroplasmic mutations that could also

11 ation of the method using samples with known homoplasmic and heteroplasmic mutations, as well as CEPH

12 acid (tRNA)(Ile) gene, which was shown to be homoplasmic by polymerase chain reaction/restriction fra

13 ochondrial DNA in this pedigree identified a homoplasmic C-to-T transition at position 1494 (C1494T)

14 y, of the individuals involved exhibited the homoplasmic C150T mutation.

15 subjects of an Italian population revealed a homoplasmic C150T transition near an origin of heavy mtD

16 Among several billion homoplasmic cells tested, we were unable to detect any s

17 dicts the considerable observed frequency of homoplasmic cells.

18 the NZB-129 heteroplasmic mice, but neither homoplasmic counterpart, had reduced activity, food inta

19 eteroplasmic mice and their NZB or 129 mtDNA homoplasmic counterparts.

20 r findings may explain the high frequency of homoplasmic D310 somatic mutations in many tumor types.

21 nd that the mtDNA population shifted towards homoplasmic dimers, suggesting that there may be circums

22 All subjects were homoplasmic except the two 3,460 carriers, who showed 80

23 be heteroplasmic for one of the markers and homoplasmic fathers showed that once heteroplasmy enters

24 Consistently, the viability of homoplasmic flies at 29 degrees C was fully restored by

25 plified and cloned from a synaptosome cybrid homoplasmic for a mtDNA with nine Cs.

26 ls directly, two cell lines were fused, each homoplasmic for a partially deleted mtDNA in which the d

27 d from crosses between individuals that were homoplasmic for different mtDNA marker genotypes showed

28 ly homoplasmic for wild-type mtDNA or nearly homoplasmic for mutant mtDNA.

29 in clinical presentation between individuals homoplasmic for the 1624C>T mutation.

30 ed from the fusion of enucleated fibroblasts homoplasmic for the A3460G mutation with 206 (osteosarco

31 rm strain, chpIR (M, CB4856>N2), was bred as homoplasmic for the CB4856 mtDNA genome in the N2 nuclea

32 one of which (clone CA17.1) was essentially homoplasmic for the duplication.

33 Females are homoplasmic for the F mitotype which is inherited matern

34 DNA, and so with both procedures mouse cells homoplasmic for the mouse mtDNA in the injected mitochon

35 Cell lines nearly homoplasmic for the mutation exhibited a strong (70-75%)

36 Cells homoplasmic for the mutation had no detectable COX activ

37 subunits in a multisubunit complex in cells homoplasmic for the mutation, thus indicating that there

38 function in a human lymphoblastoid cell-line homoplasmic for the np 7445, deafness-associated mitocho

39 Regenerated plants are homoplasmic for the spectinomycin resistance and the Pst

40 remained constant in four clones apparently homoplasmic for wild-type mtDNA or nearly homoplasmic fo

41 ved from an asymptomatic individual were all homoplasmic for wild-type mtDNA.

42 Zealand pedigree exhibiting the mutation in homoplasmic form and from control individuals.

43 of a large family carrying this mutation in homoplasmic form and from control individuals.

44 ty of cultured human cell lines (carrying in homoplasmic form either the mitochondrial tRNA(Lys) A834

45 ntly enhanced tumor growth, while cells with homoplasmic form of the same mutation inhibited tumor fo

46 ab-Israeli family, carrying this mutation in homoplasmic form, exhibited significant decreases compar

47 This cell line carries a near-homoplasmic frameshift mutation in the mtDNA gene for th

48 -) cell line derivative C4T, which carries a homoplasmic frameshift mutation in the ND4 gene.

49 The majority of these somatic mutations were homoplasmic in nature, indicating that the mutant mtDNA

50 s can "take over the system" and even become homoplasmic, in a manner similar to what has been shown

51 Most of the mutations were homoplasmic, indicating that the mutant genome was domin

52 intron; however, only the P4 mutants became homoplasmic, indicating that the other mutations were le

53 Fewer repeats among heteroplasmic than homoplasmic individuals in a species with up to nine rep

54 ts and more repeats among heteroplasmic than homoplasmic individuals in two species with few repeats

55 Unlike the available set of homoplasmic knockout mutants in 25 plastid genes, the rb

56 The revertant lines contained apparently homoplasmic levels of the mutation and no other detectab

57 lthough transmitochondrial cybrids harboring homoplasmic levels of the mutation do not survive in gal

58 order by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patie

59 on, giving rise to heteroplasmic females and homoplasmic males.

60 boratories have reported a high frequency of homoplasmic mitochondrial DNA (mtDNA) mutations in human

61 that contains nDNA from one mouse strain and homoplasmic mitochondrial haplotypes from different mous

62 report documents, for the first time, that a homoplasmic mitochondrial tRNA mutation may cause matern

63 highlights the significant contribution that homoplasmic mitochondrial tRNA substitutions may play in

64 eir human counterparts, cybrids carrying the homoplasmic mouse LHON mutation demonstrated reduced res

65 This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease.

66 spiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infant

67 C4936T (p.T156I) in ND2 of complex I and the homoplasmic mtDNA mutation A9181G (p.S219G) in ATPase 6

68 Furthermore, several homoplasmic mtDNA mutations affecting subunits of NADH d

69 s are sufficient to explain the incidence of homoplasmic mtDNA mutations in human tumors.

70 mised fertility, but escaper progeny carried homoplasmic mtDNA mutations lacking the cleavage site.

71 he tissue specificity of disorders caused by homoplasmic mtDNA mutations.

72 Homoplasmic mtDNA somatic mutations and novel variants w

73 ines or mitochondrial replacement by SCNT in homoplasmic mtDNA-based disease.

74 complex IV, COX I, and the other a distinct homoplasmic mutation in a subunit of complex III, cytoch

75 s by fusing two cell lines, one containing a homoplasmic mutation in a subunit of respiratory chain c

76 genome of the maternal lineage identified a homoplasmic mutation substituting cytidine for uridine i

77 We describe a family with an unusual homoplasmic mutation that resulted in six neonatal death

78 ry complex I) subunit 5 gene (ND5); the same homoplasmic mutation was also identified in a human colo

79 4AR still contained the homoplasmic mutation, and apparently there was no ND6 pr

80 Homoplasmic mutations (present in every copy of the geno

81 These findings provide the first examples of homoplasmic mutations in the mtDNA of tumour cells and h

82 tion is similar to the reported frequency of homoplasmic mutations in tumors.

83 carried an elevated load of heteroplasmic or homoplasmic mutations, suggesting that somatic mutations

84 r(UCN)) T7511C mutation, in conjunction with homoplasmic ND1 T3308C and tRNA(Ala) T5655C mutations us

85 ations in the D310 region were predominantly homoplasmic only 7 days after exposure to damage.

86 art of a two-step selection system to obtain homoplasmic plant lines.

87 Homoplasmic plastid transformants are readily obtained i

88 nd for characterizing the steps that lead to homoplasmic plastid transformation.

89 We have previously associated a homoplasmic point mutation (1624C>T) in MTTV with a prof

90 ttleneck), to the partitioning of mtDNA into homoplasmic segregating units, or to the selection of a

91 ne to CDDP is associated with the hetero- to homoplasmic shift of a nonsynonymous mutation in MT-ND2,

92 Segregation toward the homoplasmic state can occur within a single generation i

93 n affected matrilineal relative carrying the homoplasmic T7511C mutation, exhibited approximately 75%

94 Homoplasmic transgenic plants exhibiting high levels of

95 RNA-gel blot analysis of homoplasmic transplastomic plants identified gfp transcr

96 cL and accD genes in tobacco plastid DNA and homoplasmic transplastomic plants were crossed with tran

97 tified might represent a random evolution of homoplasmic variants, rather than necessarily being a pr

98 constructs in cytoplasmic hybrids (cybrids) homoplasmic with respect to the 8993T-->G mutation showe

99 o hearing impairment in humans are generally homoplasmic, yet some individuals with these mutations h