ライフサイエンスコーパス: premature stop codon

1 us mid-sequence disablements (frameshifts or premature stop codons).

2 first exon that was predicted to result in a premature stop codon.

3 c insertion that results in a frameshift and premature stop codon.

4 s in the release factor gene can result in a premature stop codon.

5 le resulting in a frame-shift mutation and a premature stop codon.

6 ut, predicted to lead to the generation of a premature stop codon.

7 he paternal mutation, c.6310delA, leads to a premature stop codon.

8 orant binding protein 56e (Obp56e) harbors a premature stop codon.

9 ring residues 260-299 before truncating at a premature stop codon.

10 ) tract in exon 1 result in a frameshift and premature stop codon.

11 n 2, and it results in the introduction of a premature stop codon.

12 n deletion of two exons, a frameshift, and a premature stop codon.

13 hich creates a translational frame shift and premature stop codon.

14 at alters the reading frame and introduces a premature stop codon.

15 NA, or subsequent ribosome elongation to the premature stop codon.

16 astrointestinal tissue, thereby generating a premature stop codon.

17 RF15 exon, generating a shortened mRNA and a premature stop codon.

18 th codon of the mature peptide, generating a premature stop codon.

19 ng 38 amino acid codons before introducing a premature stop codon.

20 except for a point mutation that generated a premature stop codon.

21 ripts, however, are degraded by NMD due to a premature stop codon.

22 gorilla haplotypes that contain at least one premature stop codon.

23 uciferase open reading frame that contains a premature stop codon.

24 mutated Cosmc with a deletion introducing a premature stop codon.

25 ant counterpart because of the presence of a premature stop codon.

26 harbors a genetic variant that introduces a premature stop codon.

27 In v(6J), a GT transversion creates a premature stop codon.

28 a missense mutation in sodA that produced a premature stop codon.

29 stitution at nucleotide 695, which created a premature stop codon.

30 site in the ferrochelatase gene, creating a premature stop codon.

31 ge that creates a frame shift and produces a premature stop codon.

32 s a frame shift in the coding sequence and a premature stop codon.

33 and the polypeptide encoded upstream of the premature stop codon.

34 id decay of pre-mRNAs and mRNAs containing a premature stop codon.

35 ed by a long stretch of novel sequence and a premature stop codon.

36 eads to incorporation of a pseudoexon with a premature stop codon.

37 hift mutation in the STAG3 gene leading to a premature stop codon.

38 e B domain, with 11 unique amino acids and a premature stop codon.

39 mRNA, with the retained intron introducing a premature stop codon.

40 of intron 40, a translation frameshift and a premature stop codon.

41 endoplasmic reticulum retrieval signal via a premature stop codon.

42 found in an exon of NaKR1 that introduced a premature stop codon.

43 nce alterations of LEF1, 2 of which produced premature stop codons.

44 FB(13)' has a 1 bp substitution that lead to premature stop codons.

45 nse-mediated decay machinery if they contain premature stop codons.

46 ed decay, a pathway that degrades mRNAs with premature stop codons.

47 mediated decay, which lead to suppression of premature stop codons.

48 ngly, Sr-CIII and Sr-CIV are polymorphic for premature stop codons.

49 open reading frames (uORF), resulting in two premature stop codons.

50 ional due to the presence of frameshifts and premature stop codons.

51 ntly in mononucleotide repeats that generate premature stop codons.

52 t coding sequence, caused by frameshifts and premature stop codons.

53 arbor nonsense point mutations, resulting in premature stop codons.

54 rent mutations in EYA4, both of which create premature stop codons.

55 selective degradation of mRNAs that contain premature stop codons.

56 mutations in endoglin cause frameshifts and premature stop codons.

57 A significant number of these mutations are premature stop codons.

58 re effects in the coding region by inserting premature stop codons.

59 re not expressed, and 23% are interrupted by premature stop codons.

60 by frameshift single-base deletions forming premature stop codons.

61 t the D genome gene is inactivated by tandem premature stop codons.

62 tes a pseudogene containing frame shifts and premature stop codons.

63 le nucleotide polymorphism that introduces a premature stop codon, a fraction of African descendents

64 bited processing while the introduction of a premature stop codon abolished processing.

65 tions, introduces a frameshift and creates a premature stop codon, abolishing four functionally impor

66 The defect results in a frameshift and a premature stop codon, absence of enzyme activity, and hy

67 ated mRNA decay (NMD), the process wherein a premature stop codon affects both translation and mRNA d

68 nsertion between exons 3 and 4, generating a premature stop codon (after amino acid 187).

69 olymorphisms in wild strains include several premature stop codon alleles that cannot propagate [PIN+

70 oncogene splicing and a higher incidence of premature stop codons among tumour suppressor and cancer

71 eterozygosity for a frameshift mutation with premature stop codon and a missense mutation predicting

72 transcript with a genomic insert encoding a premature stop codon and a truncated ESR1 protein lackin

73 ks exon 10 (DGKalphaDelta10) and generates a premature stop codon and a truncated protein was identif

74 including a 2-bp insertion that generated a premature stop codon and a truncated YUC1 protein of 212

75 One mutation resulted in a premature stop codon and absent protein, while the secon

76 HUA2 from Landsberg erecta (Ler) contains a premature stop codon and acts as an enhancer of early fl

77 ce, a single base pair mutation results in a premature stop codon and deletion of 83 amino acids; as

78 Among all mutations, half were deleterious (premature stop codon and deletions) and would result in

79 lted in a frameshift, producing a downstream premature stop codon and early truncation of the protein

80 ranscript from epsilon553del7-CHRNE carry no premature stop codon and hence are immune to NMD.

81 The bld2-1 allele has a premature stop codon and intragenic revertants replace t

82 interacting kinase HipK3 that incorporates a premature stop codon and is included only in the human t

83 This insertion creates a premature stop codon and is predicted to result in a tru

84 (SNP) mutation in the GL4 gene resulted in a premature stop codon and led to small seeds and loss of

85 e with the Apc(min) allele that results in a premature stop codon and loss of function showed no abno

86 The resulting frameshift causes a premature STOP codon and loss of major higher molecular

87 deletion and missense mutation leading to a premature stop codon and loss of the pleckstrin homology

88 redicted a frameshift mutation that led to a premature stop codon and premature chain termination, wh

89 of a truncated protein or readthrough of the premature stop codon and production of the complete rele

90 AT gene showed a mutation that resulted in a premature stop codon and protein truncation leading to c

91 a 1 bp deletion (643delA) that results in a premature stop codon and truncation of the C-terminal, c

92 e sequence change was predicted to lead to a premature stop codon and, thus, mutant mRNAs were subjec

93 les derived from this patient contained both premature stop codons and an unusual Q3R polymorphism.

94 Three mog-1 alleles possess premature stop codons and are likely to be null alleles,

95 The bovine and porcine OASL genes contain premature stop codons and encode truncated proteins, whi

96 s generally tend to be rare, containing more premature stop codons and have less identifiable functio

97 mechanism for the removal of mRNA containing premature stop codons and is mediated by the coordinated

98 Two alleles have premature stop codons and one allele changes a splice si

99 d mRNA decay (NMD) of transcripts containing premature stop codons and related to the ATM and ATR kin

100 d genes are nonfunctional, containing either premature stop codons and/or frameshift mutations.

101 The mutation in the Mc4r gene produces a premature stop codon, and the mutant SIM1 protein lacks

102 deletion in talpid(2) C2CD3 that produces a premature stop codon, and thus a truncated protein, as t

103 Two mutations were predicted to introduce premature stop codons, and one was predicted to result i

104 ltiple exon deletions, frameshift mutations, premature stop codons, and transcriptional evidence of d

105 onstrate that Ubx transcripts containing the premature stop codon are expressed at lower levels than

106 Eukaryotic mRNAs that contain premature stop codons are degraded more rapidly than the

107 mRNAs that contain premature stop codons are degraded selectively and rapid

108 Eukaryotic messenger RNAs containing premature stop codons are selectively and rapidly degrad

109 mRNAs that contain premature stop codons are selectively degraded in all eu

110 Expressed genes, some with premature stop codons, are interspersed with nonexpresse

111 cleotides and results in a frameshift with a premature stop codon at amino acid position 498.

112 mouse spink5 and created mice with a mutated premature stop codon at amino acid R820X, to produce an

113 on of nucleotides 867 to 868, resulting in a premature stop codon at amino acid residue 267, and a T8

114 on 18 of the patched gene that resulted in a premature stop codon at codon 1051.

115 ase-pair deletion in exon 3 that generates a premature stop codon at codon 313 (L313X).

116 letion at codon 35 in exon 2, resulting in a premature stop codon at codon 45.

117 protein and resulting in a frameshift and a premature stop codon at position 1597 (amino acid 532).

118 9-bp deletion in exon 15, which results in a premature stop codon at position 534 of the protein.

119 The engineered mice bear a premature stop codon at residue 1767 and a 42-base pair

120 on in the 5' end of the gene, resulting in a premature stop codon at tcdA position 139.

121 ed out of frame terminating translation at a premature stop codon at the end of exon 63.

122 of a frequent CLCNKB mutation that creates a premature stop codon at Trp-610.

123 substitutions at nucleotide 208, generating premature stop codons at that site in both strains.

124 ses dramatically in smg(-) mutants, contains premature stop codons because of incomplete removal of a

125 C-->T change in the mpdz gene that created a premature stop codon (c.1372C-->T, p.R458X), which segre

126 uncated at the intracellular TM3-4 loop by a premature stop codon, can be complemented by co-expressi

127 Introducing premature stop codons caused a dramatic reduction of tas

128 pejvakin allele described here introduces a premature stop codon, causes outer hair cell defects, an

129 A single mutation, leading to a premature stop codon, causes the transition of tomato fr

130 single amino acid substitution (G299V) or a premature stop codon causing strong virulence attenuatio

131 other mutant alleles revealed deletions or a premature stop codon, confirming that DWF4 had been clon

132 ge that converts a codon for cysteine into a premature stop codon [Cys(502)Ter], resulting in severe

133 homozygous mutation in exon 5, leading to a premature stop codon deleting most of the cytoplasmic ta

134 unrelated control individuals, introduced a premature stop codon disrupting the Kv1.5 channel protei

135 2 transcript lacking exon 4 and introduces a premature stop codon downstream of exon 3.

136 ions in their insulin receptor gene inserted premature stop codons (E124X, R372X, G650X, E665X and C6

137 DNA of the resistant strain that generates a premature stop codon expected to yield a truncated ABCC2

138 -pair deletion in FASLG exon 1, leading to a premature stop codon (F87fs x95) and a complete defect i

139 pressor and oncogenes show marked changes in premature stop-codon frequency; with tumour suppressor g

140 ed a nonsense mutation and the corresponding premature stop codon generated a protein null allele.

141 ase) were identified, one of them encoding a premature stop codon generating a non-functional truncat

142 Two Ko persons with premature stop codons had identical mutations in exon 4

143 Mutations that did not lead to a premature stop codon have also been described; these wer

144 ength intact (without mutations resulting in premature stop codons) homologues of 26 known protein-co

145 sitional cloning revealed the existence of a premature stop codon in a chloroplast-targeted zinc meta

146 mutation in the food strain that generates a premature stop codon in a global activator (gacA), encod

147 A premature stop codon in ACTN3 resulting in alpha-actinin

148 s caused truncation of proteins, including a premature stop codon in an AraC-family transcriptional r

149 oding gene (At5g43630; TZP), which carries a premature stop codon in Bay-0.

150 metabotropic receptor 3 (GRM3) gene gained a premature stop codon in BMD cells, and silencing GRM3 in

151 on in the nieuwkoid/dharma gene results in a premature stop codon in boz(m168) mutants, leading to th

152 ess phenotype was positionally ascribed to a premature stop codon in Cd14.

153 shift in the translation reading frame and a premature stop codon in exon 15.

154 is was conducted on 60 subjects, revealing a premature stop codon in exon 3 at S2377X (rs12568784) an

155 ution in exon 10 (S363N) in one allele and a premature stop codon in exon 6 (R192Stop) in the other a

156 A homozygous premature stop codon in exon 6 of PIK3R1 was identified

157 a 1-nt upstream frameshift, which leads to a premature stop codon in exon 8.

158 modification led to failed recognition of a premature stop codon in lin-1(e1275).

159 e mutation encoding p.Ser293* resulting in a premature stop codon in one family and a missense mutati

160 re variants in CELF6 identified an inherited premature stop codon in one of the probands.

161 appears to cause alternative splicing and a premature stop codon in sweet quinoa strains.

162 earts in muzak (muz) embryos are caused by a premature stop codon in the cardiac myosin heavy chain g

163 ge within the V4 loop, also in the SU; and a premature stop codon in the cytoplasmic tail of the tran

164 trigger excision of an exon bearing a mutant premature stop codon in the DMD transcript have been sho

165 has been linked to a substitution causing a premature stop codon in the DMRT3 gene (DMRT3_Ser301STOP

166 e - an animal model for DMD that possesses a premature stop codon in the dystrophin gene.

167 The maternal allele carried a premature stop codon in the first exon of lambda5/14.1 a

168 tant changes the reading frame and creates a premature stop codon in the first PPR domain.

169 loning of the brom bones gene reveals that a premature stop codon in the gene encoding hnRNP I (refer

170 sis revealed that they were homozygous for a premature stop codon in the gene encoding nitric oxide s

171 ch mutation results in the introduction of a premature stop codon in the gene sequence that encodes t

172 Repair of the premature stop codon in the invasive sclA allele restore

173 allele of FRL1 due to a naturally occurring premature stop codon in the middle of the conceptual pro

174 mparing CB2R-encoding regions, we observed a premature stop codon in the mouse CB2R gene that truncat

175 led that the recessive mutation introduces a premature stop codon in the ORF of myosin6b (myo6b), one

176 n at nucleotides 278 and 279, resulting in a premature stop codon in the protein extracellular domain

177 t the rcr3-3 mutant of tomato that carries a premature stop codon in the Rcr3 gene exhibits enhanced

178 latter is not translated because of an early premature stop codon in the retained intron.

179 sequenced invasive serotype M3 GAS possess a premature stop codon in the sclA gene truncating the pro

180 on was detected in spl11, which results in a premature stop codon in the SPL11 protein.

181 al cloning to identify the nrc mutation as a premature stop codon in the synaptojanin1 (synj1) gene.

182 8, 4561delAC, also causes a frameshift and a premature stop codon in this exon.

183 aining." We constructed an mRNA containing a premature stop codon in which we could measure the level

184 revealed 2 mutations predicted to introduce premature stop codons in 2 of the 12 families.

185 micin with PAA influenced the readthrough of premature stop codons in cultured cells and a cystic fib

186 utations in dwf5-2 and dwf5-6, respectively, premature stop codons in dwf5-3 (R400Z) and dwf5-5 (R409

187 rafish abcd1 mutant allele lines introducing premature stop codons in exon 1, as well as obtained an

188 nticodon mutations that allow them to decode premature stop codons in metabolic marker gene mRNAs, th

189 obtained with pGFP::SW2 derivatives carrying premature stop codons in pgp8 but not in pgp1, pgp2, and

190 oside antibiotics facilitate read-through of premature stop codons in prokayotes and eukaryotes.

191 arger proportion of the repertoire exhibited premature stop codons in some elderly subjects, indicati

192 for this disorder are missense mutations or premature stop codons in the coding region of the lactas

193 the STE1 locus in two dwf7 mutants revealed premature stop codons in the first (dwf7-2) and the thir

194 ion, mutated constructs were engineered with premature stop codons in the HIV-1 env, vif, vpr, vpu, n

195 sed for exon skipping are designed to bypass premature stop codons in the target RNA and restore read

196 in rat showed the translational footprint of premature stop codons in Ttn, TTNtv-position-independent

197 nsense and four frameshift mutations causing premature stop codons) in seven families, confirming tha

198 This mutation introduces a premature stop codon into the protein at amino acid 281.

199 By introduction of premature stop codons into exon 4B, specific for the B i

200 oteins in plasmid maintenance, we introduced premature stop codons into the pgp genes.

201 Furthermore, the premature stop codon introduced by the CHADL frameshift

202 ing of exon 2 that leads to a frameshift and premature stop codon is considered the signature sequenc

203 mRNA decay (NMD), the loss of mRNAs carrying premature stop codons, is a process by which cells recog

204 in of Y. enterocolitica shows that, due to a premature stop codon, it no longer encodes the fifth blo

205 omozygous for this mutation which produces a premature stop codon leading to a truncated desmoplakin

206 e coding region, causing a frame shift and a premature stop codon, led to a nonfunctional allele, tan

207 that acquired sequence variations that cause premature STOP codons, loss of STOP codons and single nu

208 n vivo system for evaluating the efficacy of premature stop codon management therapies: in vivo quant

209 patient had a nonsense mutation leading to a premature stop codon mutation (R533X).

210 A premature stop codon mutation c.157C>T (p.Gln53*) cosegr

211 ations, the efficiency of termination at the premature stop codon mutation does not appear to correla

212 Whole-exome sequencing revealed a homozygous premature stop codon mutation in the gene encoding MYSM1

213 IPD is caused by a premature stop codon mutation in the Gpnmb (GpnmbR150X)

214 the mouse dystrophin gene containing the mdx premature stop codon mutation UAA (A), which is also the

215 kacin, tobramycin, and paromomycin for eight premature stop codon mutations identified in Duchenne's

216 Premature stop codon mutations led to decreased ATP6V0A2

217 regulation, when GLD-1 mRNA targets acquire premature stop codon mutations, GLD-1 protects them from

218 cular dystrophy and other diseases caused by premature stop codon mutations.

219 rozygous deletions provoking frameshifts and premature stop codons (NM_000760.3:c.948_963del, NP_0007

220 Mutations that create premature stop codons (nonsense mutations) typically cau

221 In sph(Ihj), a premature stop codon occurs (Q1853Stop) in repeat 18.

222 ve and rapid degradation of mRNAs containing premature stop codons, occurs in all eukaryotes tested.

223 sing this system, we analyzed the effects of premature stop codons on the levels of protein being pro

224 zed to exons 3, 6, and 9 and resulted in two premature stop codons, one frameshift mutation, and one

225 Six subjects were homozygous: four with premature stop codons, one with a 5' splice site mutatio

226 e sequence change was predicted to lead to a premature stop codon; one altered the initiator ATG codo

227 transcripts such as messenger RNAs harboring premature stop-codons or short upstream open reading fra

228 in exon 2 that resulted in a frameshift and premature stop codon (p.Ala174Profs( *)35).

229 at codes for a change from cysteine 537 to a premature stop codon (p.Cys537Stop).

230 eotide substitution (c.565G>T) introducing a premature stop codon (p.Glu189*).

231 This deletion led to a premature stop codon (p.T519X) with truncation of the la

232 hat are predicted to lead to frameshifts and premature stop codons (p.Lys180LysfsX8 and p.Asp317Metfs

233 ed isoform that skips exon 9, resulting in a premature stop codon predicted to encode a truncated pro

234 a protein-encoding gene, they are considered premature stop codons (PSC).

235 A large portion of these mutations lead to premature stop codons (PTCs) and are predicted to predis

236 Drug-induced readthrough over premature stop codons (PTCs) is a potentially attractive

237 known for degrading transcripts that contain premature stop codons (PTCs) to mitigate their potential

238 This mutation introduces a premature stop codon (R1820stop) resulting in complete l

239 nucleotide (C64T) at codon 22, leading to a premature stop codon (R22X) in the albino robust capuchi

240 Whole-genome sequencing identified a premature stop codon, R255X, in the MYBPHL gene encoding

241 don that contains no deletions, additions or premature stop codons relative to the expressed LAMR1 ge

242 One of the genes with premature-stop-codons requiring A-to-I editing to encode

243 uced translational read-through of the E375X premature stop codon, restoring channel function.

244 orted to induce translational readthrough of premature stop codons resulting in the production of ful

245 A premature stop codon results in a truncated RAS1 protein

246 his mutation, truncation of the protein by a premature stop codon results in the classical phenotype.

247 on is a 442C-->G transversion resulting in a premature stop codon (S148X) in the N-terminal half of t

248 Two premature stop codons, Ser346ter and Tyr415ter, were ide

249 The apoB-27.6-specifying mutation produces a premature stop codon six amino acids (aa) downstream of

250 ses from intron 7 causing a frameshift and a premature stop codon so a truncated polypeptide is encod

251 etion results in a frameshift mutation and a premature stop codon starting at nucleotide 3375.

252 Most RS-exons contain a premature stop codon such that their inclusion can decre

253 trons or intron fragments, mainly generating premature stop codons, such that the only potentially fu

254 (ET-37; ST-11), but the sequence contains a premature stop codon, suggesting that the protein may no

255 alternative splicing events create RNAs with premature stop codons, suggesting that alternative splic

256 Analysis of several mRNA targets containing premature stop codons suggests that in translation repre

257 nsfection of some ORF2 constructs containing premature stop codons supported low levels of Alu retrot

258 on affected a single allele and introduced a premature stop codon that deletes the distal extracellul

259 nsense base substitution, which results in a premature stop codon that generates a truncated form of

260 Human theta-defensin genes contain a premature stop codon that prevents effective translation

261 site, leading to a frameshift mutation and a premature stop codon that renders a truncated protein pr

262 nt is homozygous for a mutation leading to a premature stop codon that truncates the KERA protein.

263 A point mutation in trap100 causes a premature stop codon that truncates the protein, causing

264 One of these encodes a premature stop codon that would give rise to an isoform

265 2 proteins of mammalian IAVs frequently have premature stop codons that are expected to cause truncat

266 the M2-1 protein was examined by engineering premature stop codons that caused truncations of 17, 46,

267 n multiple ways: for example, by introducing premature stop codons that either lead to the production

268 uded nine amino acid substitutions and seven premature stop codons that impair the physiological func

269 e encoded proteins were predicted to specify premature stop codons that would lead to gC proteins tha

270 tion of the release factor mRNA containing a premature stop codon, the full length protein negatively

271 etect and eliminate frameshift mutations and premature stop codons to compute the substitution rates

272 In mutant rp/rp mice, a premature stop codon truncates the protein after 79 amin

273 frame shift in the transcript, introducing a premature stop codon truncating the putative CRX peptide

274 es of Pde6b were identified: Three generated premature stop codons, two were missense mutations, and

275 ) gene, alters a tryptophan codon (UGG) to a premature stop codon (UAG).

276 Iowa strain, a single mutation introduced a premature stop codon upstream from region encoding the p

277 ous bp change, c.463 G>A, which results in a premature stop codon (W127X), was found in one, and in t

278 58 of exon-2, resulting in the formation of premature stop codons W328X, W326X, and W328X, of the GC

279 Translational readthrough of the premature stop codon was demonstrated in this mouse mode

280 A premature stop codon was identified in the second mutant

281 ids of the GnRH decapeptide and to produce a premature stop codon was identified.

282 three-nucleotide in-frame deletion, and one premature stop codon were also observed.

283 Mutant mRNAs containing a premature stop codon were unstable, as a result of nonse

284 PetE constructs containing premature stop codons were generated to investigate whet

285 CD8(+) T cell recognition were not observed, premature stop codons were observed in 7% and 56% of tax

286 pressor genes exhibiting increased levels of premature stop codons whereas oncogenes have the opposit

287 tion is predicted to cause a frame shift and premature stop codon which truncates the transmembrane a

288 at1-1 mutant, a T-DNA insertion introduces a premature stop codon, which likely results in the produc

289 O A) mutation (A863T) in exon 8 introduced a premature stop codon, which produced MAO A/B double knoc

290 e resultant net loss of an exon introduces a premature stop codon, which, in turn, leads to the gener

291 rapid degradation of target mRNA containing premature stop codons, which are the most frequently use

292 variants in almost 1000 genes, including 62 premature stop codons, which represent candidate knockou

293 regulates its production by its action on a premature stop codon, while positively regulating its pr

294 We found that introduction of a premature stop codon within qapR eliminates transcriptio

295 pecies but absent in primates, which carry a premature stop codon within the Ex17b sequence.

296 arfing alleles Rht-B1d and Rht-B1e introduce premature stop codons within the amino-terminal coding r

297 Two of the mutant alleles contain premature stop codons within the coding region of pgant3

298 However, mutations leading to premature stop codons within the L1 ORF2 sequence may yi

299 bp mutation in zebrafish, which introduces a premature stop codon (Y220X), eliminating expression of

300 on homeostasis, we generated mice in which a premature stop codon (Y245X) was introduced by targeted