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

1 d retention of the final intron leading to a premature termination codon.

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

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

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

5 g isoform that lacks the exon containing the 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 e important regulators of readthrough at the premature termination codon.

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

10 n that results in a frameshift and predicted premature termination codon.

11 sulting in splicing to a cryptic exon with a premature termination codon.

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

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

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

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

16 itiation methionine codons downstream of the premature termination codon.

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

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

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

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

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

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

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

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

25 All mutations predict the formation of premature termination codons.

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

27 ere homozygous for mutations that introduced premature termination codons.

28 ukaryotic cells of aberrant mRNAs containing premature termination codons.

29 Most of these mutations predict premature termination codons.

30 ently accumulate genetic variants, including premature termination codons.

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

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

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

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

35 nt transcripts with pseudoexon inclusion and premature termination codons.

36 ls selectively degrade transcripts harboring premature termination codons.

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

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

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

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

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

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

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

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

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

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

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

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

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

50 (1228insC), which is predicted to lead to a premature termination codon and thus to haploinsufficien

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

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

53 rds against translation of mRNAs that harbor premature termination codons and controls the stability

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

55 of a 95 bp pseudoexon, leading to mRNAs with premature termination codons and nonsense-mediated decay

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

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

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

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

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

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

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

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

64 ion from both X chromosomes,(7) introduces a premature termination codon apparently rendering the fem

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

66 Eukaryotic mRNAs containing premature termination codons are subjected to accelerate

67 g, G418, accurately predicted readthrough of premature termination codons arising from CFTR nonsense

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

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

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

71 ) mouse model from Igh (Ter5H) mice having a premature termination codon at position +5 in leader exo

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

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

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

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

76 IP2 prevented translation termination at the premature termination codon, by controlling PABP activit

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

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

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

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

81 Degradation of premature termination codon-containing mRNA transcripts

82 uced the expression of CFTR mRNA without the premature-termination-codon-containing exon 23 (CFTR-Del

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

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

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

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

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

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

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

90 translation initiation factor Eif4a2 and its premature termination codon-encoding isoform (Eif4a2(PTC

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

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

93 5866delC, which resulted in frameshift and a premature termination codon for translation 16 bp downst

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

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

96 lerance: NMD degrades transcripts containing premature termination codons, generated by 1 to 2 nucleo

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

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

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

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

101 ite, resulting in aberrant splicing and in a premature termination codon in exon 6 of this gene.

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

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

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

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

106 Mice homozygous for a premature termination codon in Pdzd8 exhibited brain str

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

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

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

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

111 A premature termination codon in the human histidine decar

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

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

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

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

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

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

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

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

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

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

122 Owing to the prevalence of premature termination codons in human disease, readthrou

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

124 Homozygous premature termination codons in PDZD8, encoding an endop

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

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

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

128 ull or Q0), the majority of which arise from premature termination codons in the mRNA coding region.

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

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

131 Premature termination codons induce rapid transcript deg

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

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

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

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

136 nation is deemed abnormal, such as that on a premature termination codon, it leads to a series of poo

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

138 ally target a region of KRT10, upstream of a premature termination codon known to induce a genetic kn

139 The duplication introduces a premature termination codon leading to nonsense-mediated

140 ntrations, modulates translation dynamics at premature termination codons leading to enhanced protein

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

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

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

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

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

146 uch as TAA, TAG, and TGA, are favored during premature termination codon mutations as they are stop c

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

148 Premature termination codon mutations were delineated in

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

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

151 1, 4003delTC, which resulted in a downstream premature termination codon, nonsense-mediated mRNA deca

152 Three premature termination codons occur in the coding region

153 2944del5, which resulted in frameshift and a premature termination codon of translation.

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

155 he defect occurs at the transcript level via premature termination codons or aberrant splicing.

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

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

158 d two novel USH2A variants, resulting in the premature termination codon p.Leu30Ter and a missense mu

159 resent prime editing-mediated readthrough of premature termination codons (PERT), a strategy to rescu

160 In addition to premature termination codons, plant microRNAs can also d

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

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

163 e various splicing factor mutants comprise a premature termination codon (PTC) and are therefore pote

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

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

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

167 we identified translational readthrough of a premature termination codon (PTC) as a cause of resistan

168 Premature termination codon (PTC) diseases account for ~

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

170 CRISPR-Cas9 is achieved by installation of a premature termination codon (PTC) from a frameshift-indu

171 AV specifically stabilizes mRNA containing a premature termination codon (PTC) in a VCS-dependent man

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

173 ents can be therapeutically desirable when a premature termination codon (PTC) is found in a critical

174 6% of patients with RDEB harbor at least one premature termination codon (PTC) mutation in COL7A1, an

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

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

177 Premature termination codon (PTC) mutations can have dra

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

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

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

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

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

183 heterogenous effects of the position of the premature termination codon (PTC) on the CFTR protein fu

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

185 ecies encodes a frame-shifted protein with a premature termination codon (PTC) predicted to elicit de

186 and nid1a genes, we show that mRNA bearing a premature termination codon (PTC) promptly triggers a GC

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

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

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

190 a sense codon that is decoded by tRNA into a premature termination codon (PTC), resulting in an abrup

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

192 ng non-sense progranulin mutations contain a premature termination codon (PTC), thus progranulin hapl

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

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

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

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

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

198 ons in the CHM gene resulting in an in-frame premature termination codon (PTC).

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

200 -binding protein C3 ( MYBPC3) resulting in a premature termination codon (PTC).

201 d in 3' UTRs due to the presence of an early premature termination codon (PTC).

202 l mRNA triplet encoding an amino acid into a Premature Termination Codon (PTC).

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

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

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

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

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

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

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

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

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

212 m that selectively degrades transcripts with premature termination codons (PTC).

213 s in the DMD gene leading to the presence of premature termination codons (PTC).

214 Premature termination codons (PTCs) account for 10 to 20

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

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

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

218 mutations that result in the introduction of premature termination codons (PTCs) are common in cystic

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

220 Premature termination codons (PTCs) are known to decreas

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

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

223 Premature termination codons (PTCs) are responsible for

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

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

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

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

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

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

230 Premature termination codons (PTCs) can cause the decay

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

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

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

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

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

236 832delAA, 413delC, and 555delT) that lead to premature termination codons (PTCs) in exons 27, 6, and

237 Nonsense mutations that introduce premature termination codons (PTCs) into protein-coding

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

239 DNA changes that cause premature termination codons (PTCs) represent a large fr

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

241 Nonsense mutations generate premature termination codons (PTCs) that are responsible

242 f patients with genetic disorders, introduce premature termination codons (PTCs) that lead to truncat

243 Mutations that introduce premature termination codons (PTCs) within protein-codin

244 Nonsense mutations create premature termination codons (PTCs), activating the nons

245 d nonsense/frameshift variants that generate premature termination codons (PTCs), are placed in conte

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

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

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

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

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

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

252 hway degrades some but not all mRNAs bearing premature termination codons (PTCs).

253 nd cancers are caused by the introduction of premature termination codons (PTCs).

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

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

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

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

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

259 ngle nucleotide substitutions that result in premature termination codons (PTCs).

260 diseases resulting from the introduction of premature termination codons (PTCs).

261 thway that eliminates transcripts containing premature termination codons (PTCs).

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

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

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

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

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

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

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

269 e for the development of therapies targeting premature termination codon-related genetic and oncologi

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

289 tive transcript variant with a frame-shifted premature termination codon which is subjected to nonsen

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

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

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

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

294 Here, we generated Fga270 mice carrying a premature termination codon within the Fga gene at resid

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

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

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

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

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

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