ライフサイエンスコーパス: premature termination codon

1 the ABCC6 mRNA, resulting in each case in a premature termination codon.

2 rtion of intronic fragments with an in-frame premature termination codon.

3 t in the open reading frame and results in a premature termination codon.

4 g isoform that lacks the exon containing the premature termination codon.

5 novel motif, resulting in a frameshift and a premature termination codon.

6 e 35150 gusA gene and introduced a predicted premature termination codon.

7 exon 15, the effect of which was to create a premature termination codon.

8 of TCS mutations result in the creation of a premature termination codon.

9 enome editing of Lmod1 to generate a similar premature termination codon.

10 lation termination and ribosome release at a premature termination codon.

11 green fluorescent protein, which contains a premature termination codon.

12 itiation methionine codons downstream of the premature termination codon.

13 ertion mutation, leading to a frameshift and premature termination codon.

14 laminin gamma3 gene, leading to an immediate premature termination codon.

15 eptor site that creates a null allele with a premature-termination codon.

16 pathway rids eukaryotic cells of mRNAs with premature termination codons.

17 s, whereas the others were predicted to have premature termination codons.

18 pathway that rids cells of mRNAs containing premature termination codons.

19 All mutations predict the formation of premature termination codons.

20 that is likely to be important for defining premature termination codons.

21 ere homozygous for mutations that introduced premature termination codons.

22 ukaryotic cells of aberrant mRNAs containing premature termination codons.

23 Most of these mutations predict premature termination codons.

24 with Alu-exons compared to other exons with premature termination codons.

25 e (mis)annotation of open reading frames and premature termination codons.

26 ated decay (NMD) eliminates transcripts with premature termination codons.

27 ements resulted in frame-shift mutations and premature termination codons.

28 nt transcripts with pseudoexon inclusion and premature termination codons.

29 ls selectively degrade transcripts harboring premature termination codons.

30 es however are nonsense mutations leading to premature termination codons.

31 ore than 30% of the LQT2 mutations result in premature termination codons.

32 Two mutations (Leu127X; Lys292X) resulted in premature termination codons, 2 (Pro190LeufsX47; Arg319G

33 bases upstream from exon 32, resulting in a premature termination codon 27 bp downstream from the cr

34 letion in exon 32 causing a frameshift and a premature termination codon 42 bp downstream.

35 the Dsg3 gene resulting in a frameshift and premature termination codon 7 bp downstream from the sit

36 ed with normal mRNA splicing, resulting in a premature termination codon after exon 17.

37 This editing generates a premature termination codon and a truncated open reading

38 he production of aberrant mRNAs containing a premature termination codon and also controls the levels

39 tations which have been reported result in a premature termination codon and are unique to a given fa

40 LR3A gene that leads to aberrant splicing, a premature termination codon and partial deficiency of th

41 exon 10 in non-neuronal tissues generates a premature termination codon and results in the truncatio

42 that a surveillance complex scans 3' of the premature termination codon and searches for the downstr

43 hree mutations lead to the introduction of a premature termination codon and subsequent NMD of mutant

44 due to loss-of-function mutations creating a premature termination codon and the degradation of the m

45 (1228insC), which is predicted to lead to a premature termination codon and thus to haploinsufficien

46 ail can be destabilized by introduction of a premature termination codon and, importantly, that this

47 The mutations all create premature termination codons and are likely to be null a

48 All proband LEPRE1 mutations led to premature termination codons and minimal mRNA and protei

49 hift mutations (one a de novo mutation), two premature termination codons and one splice donor mutati

50 ction in the surveillance of mRNAs to define premature termination codons and possibly also in modula

51 ognition and rapid degradation of mRNAs with premature termination codons and, importantly, some wild

52 ssumed that the 68-bp insertion introduced a premature-termination codon and resulted in a nonfunctio

53 splice donor sites, creation of a downstream premature termination codon, and extremely unstable mRNA

54 would shift the open reading frame, create a premature termination codon, and foreshorten the resulta

55 the alternative transcripts examined contain premature termination codons, and most persist even afte

56 thways, such as those mediated by microRNAs, premature termination codons, and mRNA deadenylation.

57 wed that human beta-globin mRNAs harboring a premature termination codon are degraded in the erythroi

58 Eukaryotic mRNAs containing premature termination codons are subjected to accelerate

59 present only in the G319S cell line included premature termination codons as a result of the inclusio

60 present only in the G319S cell line included premature termination codons as a result of the inclusio

61 Both insertions generate a premature termination codon at codon 172.

62 ses a frameshift in the resultant mRNA and a premature termination codon before the first of the two

63 ed OsPCS2b transcript that bears the unusual premature termination codon besides the canonically spli

64 pathway selectively degrades mRNAs harboring premature termination codons but also regulates the abun

65 complex may be recruited to mRNAs containing premature termination codons by the hUpf proteins.

66 ure termination codon, (ii) transcripts with premature termination codons can occur at low or undetec

67 fter the mutation sites, and in one case the premature termination codon caused by 400delA was also s

68 e gene is degraded due to a frameshift and a premature termination codon caused by splicing C1 and C2

69 n the LAMA3 gene of laminin 5 resulting in a premature termination codon (CGA-TGA) on both alleles.

70 Degradation of premature termination codon-containing mRNA transcripts

71 ected the reading frame just proximal to the premature termination codon, countered nonsense-mediated

72 me translation and subsequent termination at premature termination codons, culminating in NMD of the

73 CCR5 mRNA directs translating ribosomes to a premature termination codon, destabilizing it through th

74 bnormalities, but a child homozygous for the premature termination codon displayed symptoms consisten

75 Both mutations result in a frameshift and premature termination codon downstream from the deletion

76 m intron 4-to-exon 5 junction and creating a premature termination codon downstream.

77 All of the mutations result in premature termination codons downstream shortly after th

78 , TmyoD1-gamma, retains intron I and has two premature termination codons far from the 3'-most exon-e

79 leading to disruption of Ig-domain 2D and a premature termination codon following the first amino ac

80 5866delC, which resulted in frameshift and a premature termination codon for translation 16 bp downst

81 rrant splice variants, three of them causing premature termination codons for translation.

82 Six mutations were found that cause a premature-termination codon; four of them have been repo

83 use: (i) aberrant splicing often generates a premature termination codon, (ii) transcripts with prema

84 This frameshift mutation creates a premature termination codon immediately downstream, ther

85 se observations argue that the signal from a premature termination codon impinges on the translation

86 , and results in a frameshift and subsequent premature termination codon in each.

87 The C1-IIIb-IIIc-C2 mRNA containing a premature termination codon in exon IIIc was present, bu

88 tically isolated family was found to carry a premature termination codon in Leiomodin1 (LMOD1), a gen

89 As proof of principle in vitro, we correct a premature termination codon in mRNAs encoding the cystic

90 However, introducing a premature termination codon in ORF1 or a thermostable ha

91 is of a truncated Gag-Pol precursor due to a premature termination codon in pol can reduce the abilit

92 tion of nucleotides causing a frameshift and premature termination codon in RNA.

93 gly-6c contained a reading frameshift and premature termination codon in the C-terminal lectin-lik

94 rences, a single-base insertion leading to a premature termination codon in the carboxyl-terminal hal

95 A premature termination codon in the human histidine decar

96 Most mutations resulted in a premature termination codon in the mRNA.

97 on 4 of the desmoplakin gene and predicted a premature termination codon in the N-terminal region of

98 e mutation results in mRNA instability and a premature termination codon in the nucleotide sequence e

99 as evident that PKP2 mutations introducing a premature termination codon in the reading frame were as

100 e find that skipping of an exon introduces a premature termination codon in the transcript that downr

101 utation, designated c.442delAG, leading to a premature termination codon in the V1 domain of the K5 p

102 here the first experimental suppression of a premature termination codon in vivo by using an ochre su

103 The discovery of premature termination codons in 38% of expressed genes w

104 These errors created premature termination codons in 4 and 42% of cDNA sequen

105 n disclosed in a limited number of patients, premature termination codons in both alleles being chara

106 ication fork progression, the recognition of premature termination codons in mRNAs, and inadequate nu

107 However, premature termination codons in pol, particularly in the

108 that both mutant alleles are associated with premature termination codons in the disp1 coding sequenc

109 can escape from AME via the introduction of premature termination codons in the gp41 cytoplasmic tai

110 tations that cause frameshifts and introduce premature termination codons in three other families wit

111 ygous protein-altering variants, including a premature termination codon, in CRKL.

112 Premature termination codons induce rapid transcript deg

113 e was reproduced by using transformants with premature termination codon insertions in the correspond

114 of which would result in the insertion of a premature termination codon into the reading frame, sugg

115 found to be highly conserved and introduced premature termination codons into coding regions.

116 Nonsense SNPs introduce premature termination codons into genes and can result i

117 The selectivity of PTC124 for premature termination codons, its well characterized act

118 ppressors, and 97% of these SNVs generated a premature termination codon, leading to loss of function

119 In this study, we report a recurrent premature termination codon mutation detected in two app

120 hat M-RDEB results from the combination of a premature termination codon mutation in one COL7A1 allel

121 A heterozygous premature termination codon mutation was found in a 57-y

122 of a missense mutation, when combined with a premature termination codon mutation, may explain the mi

123 was found in combination with two different premature termination codon mutations in these families.

124 Premature termination codon mutations were delineated in

125 lethal EB-PA was a compound heterozygote for premature termination-codon mutations (C738X/4791delCA),

126 ; OMIM 226700) is frequently associated with premature-termination-codon mutations in both alleles of

127 1, 4003delTC, which resulted in a downstream premature termination codon, nonsense-mediated mRNA deca

128 Three premature termination codons occur in the coding region

129 2944del5, which resulted in frameshift and a premature termination codon of translation.

130 rozygote for autosomal-recessively inherited premature termination codons of translation on both alle

131 are missense; the remainder either introduce premature termination codons or create frameshifts both

132 and other Na(+)/solute symporters introduce premature termination codons or impair insertion of the

133 These exon deletions introduce premature termination codons predicted to truncate the p

134 n mRNA to retain intron 2 during splicing; a premature termination codon present at the 5' end of int

135 They introduce a premature termination codon (PTC) and prevent the format

136 cilitate essential communication between the premature termination codon (PTC) and the exon-junction

137 acceptor site, causing the introduction of a premature termination codon (PTC) and the reduction of s

138 mmals generally occurs upon recognition of a premature termination codon (PTC) during a pioneer round

139 A premature termination codon (PTC) in the ORF of an mRNA

140 6% of patients with RDEB harbor at least one premature termination codon (PTC) mutation in COL7A1, an

141 Premature termination codon (PTC) mutations are due to i

142 ed gene (hERG, KCNH2) transcripts containing premature termination codon (PTC) mutations by nonsense-

143 Premature termination codon (PTC) mutations can have dra

144 more than 100 ALS-associated SOD1 mutations, premature termination codon (PTC) mutations exclusively

145 y, our laboratory showed that C-terminal Gag premature termination codon (PTC) mutations in the 3' sh

146 le the most severe forms of RDEB result from premature termination codon (PTC) mutations on both alle

147 cal implications particularly for those with premature termination codon (PTC) mutations who usually

148 ine the subtype of fibrillinopathy caused by premature termination codon (PTC) mutations, we integrat

149 In eukaryotic cells, an mRNA bearing a premature termination codon (PTC) or an abnormally long

150 ndividuals with a mutation that introduces a premature termination codon (PTC) that prevents synthesi

151 omain, the efficiency of converting a U A: G premature termination codon (PTC) to tryptophan (U G: G)

152 NMD), which degrades transcripts harboring a premature termination codon (PTC), depends on the helica

153 and demonstrate that its inclusion creates a premature termination codon (PTC), that leads to a 65kDa

154 the levels of both endogenous and exogenous Premature Termination Codon (PTC)-containing mRNA isofor

155 We demonstrate that NMD in yeast targets premature termination codon (PTC)-containing mRNA to P-b

156 RNA decay (NMD) directs rapid degradation of premature termination codon (PTC)-containing mRNAs, e.g.

157 ote aberrant exon skipping and generation of premature termination codon (PTC)-containing mRNAs.

158 g marker of cellular NMD targets, unlike for premature termination codon (PTC)-containing reporter mR

159 tagged IL-2 genomic reporters that contain a premature termination codon (PTC).

160 ated decay (NMD) degrades mRNAs containing a premature termination codon (PTC).

161 ranslation and degrading those that harbor a premature termination codon (PTC).

162 iminate aberrant mRNAs containing a specific premature termination codon (PTC).

163 icits 3' tagging of transcripts containing a premature termination codon (PTC).

164 rly termination of translation by creating a premature termination codon (PTC); however, pseudouridyl

165 zygous mutation predicts a frameshift with a premature termination codon (PTC+32aa) in the eleventh t

166 netic disorders, including cancer, result in premature termination codons (PTC) and the rapid degrada

167 nal exons that would be predicted to produce premature termination codons (PTC) in ABCC4.

168 lance pathway that degrades mRNAs containing premature termination codons (PTC).

169 In-frame premature termination codons (PTCs) account for approxim

170 Fourteen mutations created premature termination codons (PTCs) and consisted of non

171 a read-through agent, capable of suppressing premature termination codons (PTCs) and restoring functi

172 HLA class I alleles containing premature termination codons (PTCs) are increasingly bei

173 Premature termination codons (PTCs) are known to decreas

174 However, we show that transcripts containing premature termination codons (PTCs) are not always degra

175 mRNAs containing premature termination codons (PTCs) are rapidly degraded

176 anism through which mRNA transcripts bearing premature termination codons (PTCs) are selectively degr

177 Messenger RNAs containing premature termination codons (PTCs) are selectively elim

178 eptor-beta (TCRbeta) genes naturally acquire premature termination codons (PTCs) as a result of progr

179 pathway selectively degrades mRNAs harboring premature termination codons (PTCs) but also regulates t

180 ion and degradation of transcripts harboring premature termination codons (PTCs) by the nonsense-medi

181 plicing fidelity, but the mechanism by which premature termination codons (PTCs) can apparently affec

182 Premature termination codons (PTCs) can cause the decay

183 Alternative isoforms with premature termination codons (PTCs) comprised the majori

184 Premature termination codons (PTCs) have been shown to i

185 Aberrant mRNAs containing premature termination codons (PTCs) have the potential t

186 stroys aberrant mRNAs containing nonsense or premature termination codons (PTCs) in a translation-dep

187 Premature termination codons (PTCs) in an mRNA ORF inact

188 832delAA, 413delC, and 555delT) that lead to premature termination codons (PTCs) in exons 27, 6, and

189 ns for which compound-induced readthrough of premature termination codons (PTCs) might be exploited a

190 from mouse to identify sequences containing premature termination codons (PTCs) that are likely targ

191 cited by intergenic transcripts that contain premature termination codons (PTCs), but chimeric mRNAs

192 le-nucleotide changes that result in primary premature termination codons (PTCs), either UAA, UAG, or

193 Nonsense mutations create premature termination codons (PTCs), leading to the gene

194 he last exon-exon junction are recognized as premature termination codons (PTCs), targeting the mRNA

195 ity to enhance translational read-through of premature termination codons (PTCs), thereby permitting

196 Alternative transcripts often carry premature termination codons (PTCs), which trigger nonse

197 hway that recognizes and degrades mRNAs with premature termination codons (PTCs).

198 s the selective destruction of mRNAs bearing premature termination codons (PTCs).

199 athway detects and degrades mRNAs containing premature termination codons (PTCs).

200 iced transcripts that have skipped offending premature termination codons (PTCs).

201 erventions in human diseases associated with premature termination codons (PTCs).

202 ially associated with alternative exons with premature termination codons (PTCs).

203 izes and selectively degrades mRNAs carrying premature termination codons (PTCs).

204 About 12% of human genetic disorders involve premature termination codons (PTCs).

205 ns by selectively degrading mRNAs harbouring premature termination codons (PTCs).

206 with SVA exonization events that introduced premature termination codons (PTCs).

207 mmed rearrangements that frequently generate premature termination codons (PTCs).

208 st severe forms of JEB correlating best with premature termination codons, rather than mapping to any

209 changing the reading frame or introducing a premature termination codon, respectively.

210 signed to induce read-through of mRNA around premature termination codons, restore ATM activity and i

211 The mutation in PI saar introduces a premature termination codon resulting in an alpha 1-AT p

212 ation is predicted to cause a frameshift and premature termination codon, resulting in a functionally

213 disruption, which stabilized mRNAs that had premature termination codons, resulting in wild-type lev

214 The introduced premature termination codon results in deletion of the c

215 Analysis of splice variants for premature termination codons reveals approximately 50% o

216 frameshift signals would direct ribosomes to premature termination codons, suggest two possible mRNA

217 d resulting in a -1 frameshift allele with a premature termination codon that escapes nonsense-mediat

218 This exon contains a premature termination codon that triggers nonsense-media

219 e majority of TCOF1 mutations in TCS lead to premature termination codons that could affect the cellu

220 esis, we examined the decapping triggered by premature termination codons to determine whether there

221 eillance, which subjects aberrant mRNAs with premature termination codons to nonsense-mediated decay

222 One cDNA contained a premature termination codon, two contained splice varian

223 When primate A3H sequences were compared, a premature termination codon was identified on the fifth

224 s restored to wild-type levels when a second premature termination codon was introduced at the 5' end

225 In two cases in which premature termination codons were found in genomic DNA,

226 ffects on particle production were seen when premature termination codons were introduced into the in

227 ority of the mutations (54%; 13/24) led to a premature termination codon which further supports the p

228 Drugs targeting F508del CFTR and premature termination codons, which would be applicable

229 deletions, substitutions and introduction of premature termination codons, while most mutations disru

230 tions identified resulted in frameshifts and premature termination codons, while the fifth mutation r

231 resence of a U12-type intron downstream of a premature termination codon within an open reading frame

232 oup 1 LEA gene family, but also to contain a premature termination codon within the first exon.

233 variant alleles are predicted to result in a premature termination codon within the last exon, escape

234 ion of the entire intron 7, which contains a premature termination codon within the N-terminal domain

235 ric cDNA constructs were designed containing premature termination codons within the coiled-coil neck

236 ere forms of peripheral neuropathy result in premature termination codons within the terminal or penu

237 Intron 2 contains a premature termination codon, yet the K8beta mRNA is inse