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1 All copies are therefore near-identical, or homoplasmic.
2 ion that plant mitochondrial populations are homoplasmic.
3 conventional wisdom--these mutations can be homoplasmic.
4 conventional wisdom - these mutations can be homoplasmic.
5 e mutation has subsequently been shown to be homoplasmic.
7 in steady-state mt-tRNA(Val) observed in the homoplasmic 1624C>T-cell lines is caused by a rapid degr
8 NT) enabled replacement of mutant mtDNA from homoplasmic 8993T>G fibroblasts to generate corrected Le
11 rmal tissues, cancer cells harboured further homoplasmic and heteroplasmic mutations that could also
12 ation of the method using samples with known homoplasmic and heteroplasmic mutations, as well as CEPH
13 as effective in reducing the transmission of homoplasmic and heteroplasmic pathogenic mtDNA variants.
14 occurs in multiple copies resulting in both homoplasmic and heteroplasmic pathogenic mtDNA variants.
15 es three technical challenges: (1) detecting homoplasmic and heteroplasmic variants, present, respect
17 acid (tRNA)(Ile) gene, which was shown to be homoplasmic by polymerase chain reaction/restriction fra
18 ochondrial DNA in this pedigree identified a homoplasmic C-to-T transition at position 1494 (C1494T)
20 subjects of an Italian population revealed a homoplasmic C150T transition near an origin of heavy mtD
23 the NZB-129 heteroplasmic mice, but neither homoplasmic counterpart, had reduced activity, food inta
25 r findings may explain the high frequency of homoplasmic D310 somatic mutations in many tumor types.
26 nd that the mtDNA population shifted towards homoplasmic dimers, suggesting that there may be circums
28 be heteroplasmic for one of the markers and homoplasmic fathers showed that once heteroplasmy enters
33 ls directly, two cell lines were fused, each homoplasmic for a partially deleted mtDNA in which the d
34 d from crosses between individuals that were homoplasmic for different mtDNA marker genotypes showed
37 ed from the fusion of enucleated fibroblasts homoplasmic for the A3460G mutation with 206 (osteosarco
38 rm strain, chpIR (M, CB4856>N2), was bred as homoplasmic for the CB4856 mtDNA genome in the N2 nuclea
41 DNA, and so with both procedures mouse cells homoplasmic for the mouse mtDNA in the injected mitochon
44 subunits in a multisubunit complex in cells homoplasmic for the mutation, thus indicating that there
45 function in a human lymphoblastoid cell-line homoplasmic for the np 7445, deafness-associated mitocho
47 remained constant in four clones apparently homoplasmic for wild-type mtDNA or nearly homoplasmic fo
51 ty of cultured human cell lines (carrying in homoplasmic form either the mitochondrial tRNA(Lys) A834
52 ntly enhanced tumor growth, while cells with homoplasmic form of the same mutation inhibited tumor fo
53 ab-Israeli family, carrying this mutation in homoplasmic form, exhibited significant decreases compar
57 The majority of these somatic mutations were homoplasmic in nature, indicating that the mutant mtDNA
58 s can "take over the system" and even become homoplasmic, in a manner similar to what has been shown
60 intron; however, only the P4 mutants became homoplasmic, indicating that the other mutations were le
62 ts and more repeats among heteroplasmic than homoplasmic individuals in two species with few repeats
63 rary, which we named MitoKO, to produce near-homoplasmic knockout cells in vitro and to generate a mo
66 The revertant lines contained apparently homoplasmic levels of the mutation and no other detectab
67 lthough transmitochondrial cybrids harboring homoplasmic levels of the mutation do not survive in gal
69 order by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patie
71 boratories have reported a high frequency of homoplasmic mitochondrial DNA (mtDNA) mutations in human
72 that contains nDNA from one mouse strain and homoplasmic mitochondrial haplotypes from different mous
73 report documents, for the first time, that a homoplasmic mitochondrial tRNA mutation may cause matern
74 highlights the significant contribution that homoplasmic mitochondrial tRNA substitutions may play in
75 eir human counterparts, cybrids carrying the homoplasmic mouse LHON mutation demonstrated reduced res
77 spiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infant
78 C4936T (p.T156I) in ND2 of complex I and the homoplasmic mtDNA mutation A9181G (p.S219G) in ATPase 6
81 mised fertility, but escaper progeny carried homoplasmic mtDNA mutations lacking the cleavage site.
84 alling analysis against showed that 99.5% of homoplasmic mtDNA variants can be reliably identified pr
86 y acid metabolism pathways that lack in near homoplasmic mutant cells compared to wild type cells.
87 complex IV, COX I, and the other a distinct homoplasmic mutation in a subunit of complex III, cytoch
88 s by fusing two cell lines, one containing a homoplasmic mutation in a subunit of respiratory chain c
89 CCs) display two exceptional genotypes: near-homoplasmic mutation of mitochondrial DNA (mtDNA) and ge
90 genome of the maternal lineage identified a homoplasmic mutation substituting cytidine for uridine i
92 ry complex I) subunit 5 gene (ND5); the same homoplasmic mutation was also identified in a human colo
94 5% confidence interval = .05 to .31) but not homoplasmic mutations (B = -.008, 95% confidence interva
95 5% confidence interval = .05 to .31) but not homoplasmic mutations (beta = -.008, 95% confidence inte
97 These findings provide the first examples of homoplasmic mutations in the mtDNA of tumour cells and h
99 carried an elevated load of heteroplasmic or homoplasmic mutations, suggesting that somatic mutations
100 r(UCN)) T7511C mutation, in conjunction with homoplasmic ND1 T3308C and tRNA(Ala) T5655C mutations us
106 or-infiltrating lymphocytes, promoting their homoplasmic replacement and undermining cancer immunity.
107 ttleneck), to the partitioning of mtDNA into homoplasmic segregating units, or to the selection of a
108 ne to CDDP is associated with the hetero- to homoplasmic shift of a nonsynonymous mutation in MT-ND2,
110 o its uniparental inheritance and subsequent homoplasmic state, which excludes the biological need fo
111 n affected matrilineal relative carrying the homoplasmic T7511C mutation, exhibited approximately 75%
115 cL and accD genes in tobacco plastid DNA and homoplasmic transplastomic plants were crossed with tran
116 le blood samples carried a similar number of homoplasmic variants (p = 0.45) per sample while the LCL
118 diabetes, deafness and heart failure and 12 homoplasmic variants increased aspartate aminotransferas
119 tified might represent a random evolution of homoplasmic variants, rather than necessarily being a pr
121 constructs in cytoplasmic hybrids (cybrids) homoplasmic with respect to the 8993T-->G mutation showe
122 o hearing impairment in humans are generally homoplasmic, yet some individuals with these mutations h