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1 us mid-sequence disablements (frameshifts or premature stop codons).
2 endoplasmic reticulum retrieval signal via a premature stop codon.
3 found in an exon of NaKR1 that introduced a premature stop codon.
4 c insertion that results in a frameshift and premature stop codon.
5 s in the release factor gene can result in a premature stop codon.
6 le resulting in a frame-shift mutation and a premature stop codon.
7 ut, predicted to lead to the generation of a premature stop codon.
8 he paternal mutation, c.6310delA, leads to a premature stop codon.
9 orant binding protein 56e (Obp56e) harbors a premature stop codon.
10 ring residues 260-299 before truncating at a premature stop codon.
11 ) tract in exon 1 result in a frameshift and premature stop codon.
12 n 2, and it results in the introduction of a premature stop codon.
13 n deletion of two exons, a frameshift, and a premature stop codon.
14 hich creates a translational frame shift and premature stop codon.
15 at alters the reading frame and introduces a premature stop codon.
16 NA, or subsequent ribosome elongation to the premature stop codon.
17 astrointestinal tissue, thereby generating a premature stop codon.
18 RF15 exon, generating a shortened mRNA and a premature stop codon.
19 th codon of the mature peptide, generating a premature stop codon.
20 ng 38 amino acid codons before introducing a premature stop codon.
21 except for a point mutation that generated a premature stop codon.
22 ripts, however, are degraded by NMD due to a premature stop codon.
23 gorilla haplotypes that contain at least one premature stop codon.
24 uciferase open reading frame that contains a premature stop codon.
25 mutated Cosmc with a deletion introducing a premature stop codon.
26 ant counterpart because of the presence of 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 first exon that was predicted to result in a premature stop codon.
34 harbors a genetic variant that introduces a premature stop codon.
35 eads to incorporation of a pseudoexon with a premature stop codon.
36 uplication causes a frame shift leading to 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 or 3 (TLR3) gene resulting in formation of a premature stop-codon.
42 tes a pseudogene containing frame shifts and premature stop codons.
43 ad to markedly altered protein sequences and premature stop codons.
44 nce alterations of LEF1, 2 of which produced premature stop codons.
45 FB(13)' has a 1 bp substitution that lead to premature stop codons.
46 nse-mediated decay machinery if they contain premature stop codons.
47 ed decay, a pathway that degrades mRNAs with premature stop codons.
48 mediated decay, which lead to suppression of premature stop codons.
49 ngly, Sr-CIII and Sr-CIV are polymorphic for premature stop codons.
50 open reading frames (uORF), resulting in two premature stop codons.
51 ional due to the presence of frameshifts and premature stop codons.
52 ntly in mononucleotide repeats that generate premature stop codons.
53 t coding sequence, caused by frameshifts and premature stop codons.
54 arbor nonsense point mutations, resulting in premature stop codons.
55 rent mutations in EYA4, both of which create premature stop codons.
56 selective degradation of mRNAs that contain premature stop codons.
57 mutations in endoglin cause frameshifts and premature stop codons.
58 y of which introduced frameshifts or encoded premature stop codons.
59 ipping resulting in frameshifts that lead to premature stop codons.
60 re not expressed, and 23% are interrupted by premature stop codons.
61 by frameshift single-base deletions forming premature stop codons.
62 es also occurred, leading to frameshifts and premature stop codons.
63 t the D genome gene is inactivated by tandem premature stop codons.
64 le nucleotide polymorphism that introduces a premature stop codon, a fraction of African descendents
65 tions, introduces a frameshift and creates a premature stop codon, abolishing four functionally impor
66 ated mRNA decay (NMD), the process wherein a premature stop codon affects both translation and mRNA d
67 olymorphisms in wild strains include several premature stop codon alleles that cannot propagate [PIN+
68 l, we show that alternative splicing and the premature stop codon alter ataxin-3 stability and that a
69 oncogene splicing and a higher incidence of premature stop codons among tumour suppressor and cancer
70 eterozygosity for a frameshift mutation with premature stop codon and a missense mutation predicting
71 transcript with a genomic insert encoding a premature stop codon and a truncated ESR1 protein lackin
72 ks exon 10 (DGKalphaDelta10) and generates a premature stop codon and a truncated protein was identif
73 including a 2-bp insertion that generated a premature stop codon and a truncated YUC1 protein of 212
75 HUA2 from Landsberg erecta (Ler) contains a premature stop codon and acts as an enhancer of early fl
76 ce, a single base pair mutation results in a premature stop codon and deletion of 83 amino acids; as
77 Among all mutations, half were deleterious (premature stop codon and deletions) and would result in
78 lted in a frameshift, producing a downstream premature stop codon and early truncation of the protein
81 interacting kinase HipK3 that incorporates a premature stop codon and is included only in the human t
83 (SNP) mutation in the GL4 gene resulted in a premature stop codon and led to small seeds and loss of
84 e with the Apc(min) allele that results in a premature stop codon and loss of function showed no abno
86 deletion and missense mutation leading to a premature stop codon and loss of the pleckstrin homology
87 redicted a frameshift mutation that led to a premature stop codon and premature chain termination, wh
88 of a truncated protein or readthrough of the premature stop codon and production of the complete rele
89 AT gene showed a mutation that resulted in a premature stop codon and protein truncation leading to c
90 a 1 bp deletion (643delA) that results in a premature stop codon and truncation of the C-terminal, c
91 e sequence change was predicted to lead to a premature stop codon and, thus, mutant mRNAs were subjec
92 les derived from this patient contained both premature stop codons and an unusual Q3R polymorphism.
93 The bovine and porcine OASL genes contain premature stop codons and encode truncated proteins, whi
94 s generally tend to be rare, containing more premature stop codons and have less identifiable functio
95 mechanism for the removal of mRNA containing premature stop codons and is mediated by the coordinated
97 d mRNA decay (NMD) of transcripts containing premature stop codons and related to the ATM and ATR kin
100 deletion in talpid(2) C2CD3 that produces a premature stop codon, and thus a truncated protein, as t
101 ubstitutions to frameshift mutations causing premature stop codons, and led to specific differences i
102 Two mutations were predicted to introduce premature stop codons, and one was predicted to result i
103 ltiple exon deletions, frameshift mutations, premature stop codons, and transcriptional evidence of d
104 onstrate that Ubx transcripts containing the premature stop codon are expressed at lower levels than
110 mouse spink5 and created mice with a mutated premature stop codon at amino acid R820X, to produce an
111 on of nucleotides 867 to 868, resulting in a premature stop codon at amino acid residue 267, and a T8
114 protein and resulting in a frameshift and a premature stop codon at position 1597 (amino acid 532).
115 9-bp deletion in exon 15, which results in a premature stop codon at position 534 of the protein.
121 ses dramatically in smg(-) mutants, contains premature stop codons because of incomplete removal of a
122 C-->T change in the mpdz gene that created a premature stop codon (c.1372C-->T, p.R458X), which segre
123 uncated at the intracellular TM3-4 loop by a premature stop codon, can be complemented by co-expressi
125 pejvakin allele described here introduces a premature stop codon, causes outer hair cell defects, an
127 single amino acid substitution (G299V) or a premature stop codon causing strong virulence attenuatio
128 ge that converts a codon for cysteine into a premature stop codon [Cys(502)Ter], resulting in severe
129 homozygous mutation in exon 5, leading to a premature stop codon deleting most of the cytoplasmic ta
130 unrelated control individuals, introduced a premature stop codon disrupting the Kv1.5 channel protei
134 ions in their insulin receptor gene inserted premature stop codons (E124X, R372X, G650X, E665X and C6
135 DNA of the resistant strain that generates a premature stop codon expected to yield a truncated ABCC2
136 -pair deletion in FASLG exon 1, leading to a premature stop codon (F87fs x95) and a complete defect i
137 pressor and oncogenes show marked changes in premature stop-codon frequency; with tumour suppressor g
138 ase) were identified, one of them encoding a premature stop codon generating a non-functional truncat
141 ength intact (without mutations resulting in premature stop codons) homologues of 26 known protein-co
142 sitional cloning revealed the existence of a premature stop codon in a chloroplast-targeted zinc meta
143 mutation in the food strain that generates a premature stop codon in a global activator (gacA), encod
145 This expression difference is caused by a premature stop codon in an ANS-regulating R2R3-MYB trans
146 s caused truncation of proteins, including a premature stop codon in an AraC-family transcriptional r
148 metabotropic receptor 3 (GRM3) gene gained a premature stop codon in BMD cells, and silencing GRM3 in
151 is was conducted on 60 subjects, revealing a premature stop codon in exon 3 at S2377X (rs12568784) an
152 ution in exon 10 (S363N) in one allele and a premature stop codon in exon 6 (R192Stop) in the other a
156 e mutation encoding p.Ser293* resulting in a premature stop codon in one family and a missense mutati
160 in the 33277 fimB allele (A->T), creating a premature stop codon in the 33277 fimB open reading fram
161 earts in muzak (muz) embryos are caused by a premature stop codon in the cardiac myosin heavy chain g
162 ge within the V4 loop, also in the SU; and a premature stop codon in the cytoplasmic tail of the tran
163 trigger excision of an exon bearing a mutant premature stop codon in the DMD transcript have been sho
164 has been linked to a substitution causing a premature stop codon in the DMRT3 gene (DMRT3_Ser301STOP
166 loning of the brom bones gene reveals that a premature stop codon in the gene encoding hnRNP I (refer
167 sis revealed that they were homozygous for a premature stop codon in the gene encoding nitric oxide s
168 ch mutation results in the introduction of a premature stop codon in the gene sequence that encodes t
170 single nucleotide polymorphism introducing a premature stop codon in the lysosomal trafficking regula
171 allele of FRL1 due to a naturally occurring premature stop codon in the middle of the conceptual pro
172 mparing CB2R-encoding regions, we observed a premature stop codon in the mouse CB2R gene that truncat
173 led that the recessive mutation introduces a premature stop codon in the ORF of myosin6b (myo6b), one
174 t the rcr3-3 mutant of tomato that carries a premature stop codon in the Rcr3 gene exhibits enhanced
175 sequenced invasive serotype M3 GAS possess a premature stop codon in the sclA gene truncating the pro
177 al cloning to identify the nrc mutation as a premature stop codon in the synaptojanin1 (synj1) gene.
178 s identified a point mutation that creates a premature stop codon in the transcriptional regulator ge
180 micin with PAA influenced the readthrough of premature stop codons in cultured cells and a cystic fib
181 utations in dwf5-2 and dwf5-6, respectively, premature stop codons in dwf5-3 (R400Z) and dwf5-5 (R409
182 rafish abcd1 mutant allele lines introducing premature stop codons in exon 1, as well as obtained an
183 nticodon mutations that allow them to decode premature stop codons in metabolic marker gene mRNAs, th
184 obtained with pGFP::SW2 derivatives carrying premature stop codons in pgp8 but not in pgp1, pgp2, and
185 oside antibiotics facilitate read-through of premature stop codons in prokayotes and eukaryotes.
186 arger proportion of the repertoire exhibited premature stop codons in some elderly subjects, indicati
187 for this disorder are missense mutations or premature stop codons in the coding region of the lactas
188 ion, mutated constructs were engineered with premature stop codons in the HIV-1 env, vif, vpr, vpu, n
189 sed for exon skipping are designed to bypass premature stop codons in the target RNA and restore read
190 in rat showed the translational footprint of premature stop codons in Ttn, TTNtv-position-independent
191 nsense and four frameshift mutations causing premature stop codons) in seven families, confirming tha
196 ing of exon 2 that leads to a frameshift and premature stop codon is considered the signature sequenc
197 mRNA decay (NMD), the loss of mRNAs carrying premature stop codons, is a process by which cells recog
198 in of Y. enterocolitica shows that, due to a premature stop codon, it no longer encodes the fifth blo
199 omozygous for this mutation which produces a premature stop codon leading to a truncated desmoplakin
200 e coding region, causing a frame shift and a premature stop codon, led to a nonfunctional allele, tan
201 that acquired sequence variations that cause premature STOP codons, loss of STOP codons and single nu
202 n vivo system for evaluating the efficacy of premature stop codon management therapies: in vivo quant
205 ations, the efficiency of termination at the premature stop codon mutation does not appear to correla
206 Whole-exome sequencing revealed a homozygous premature stop codon mutation in the gene encoding MYSM1
208 the mouse dystrophin gene containing the mdx premature stop codon mutation UAA (A), which is also the
210 kacin, tobramycin, and paromomycin for eight premature stop codon mutations identified in Duchenne's
212 regulation, when GLD-1 mRNA targets acquire premature stop codon mutations, GLD-1 protects them from
213 rozygous deletions provoking frameshifts and premature stop codons (NM_000760.3:c.948_963del, NP_0007
216 ve and rapid degradation of mRNAs containing premature stop codons, occurs in all eukaryotes tested.
217 ts of different ataxin-3 isoforms and of the premature stop codon on ataxin-3's physiological functio
218 containing a point mutation that generates a premature stop codon on exon 3a (3aQ68*); (ii) Ccalpha6(
219 zed to exons 3, 6, and 9 and resulted in two premature stop codons, one frameshift mutation, and one
220 Six subjects were homozygous: four with premature stop codons, one with a 5' splice site mutatio
221 e sequence change was predicted to lead to a premature stop codon; one altered the initiator ATG codo
222 transcripts such as messenger RNAs harboring premature stop-codons or short upstream open reading fra
223 paternal allele is predicted to result in a premature stop codon p.(Gln305*), and likely explains th
228 hat are predicted to lead to frameshifts and premature stop codons (p.Lys180LysfsX8 and p.Asp317Metfs
229 ed isoform that skips exon 9, resulting in a premature stop codon predicted to encode a truncated pro
232 A large portion of these mutations lead to premature stop codons (PTCs) and are predicted to predis
234 known for degrading transcripts that contain premature stop codons (PTCs) to mitigate their potential
236 nucleotide (C64T) at codon 22, leading to a premature stop codon (R22X) in the albino robust capuchi
240 orted to induce translational readthrough of premature stop codons resulting in the production of ful
241 erminal end of the protein, which produced a premature stop codon, resulting in production of the N-t
243 his mutation, truncation of the protein by a premature stop codon results in the classical phenotype.
244 The apoB-27.6-specifying mutation produces a premature stop codon six amino acids (aa) downstream of
245 ses from intron 7 causing a frameshift and a premature stop codon so a truncated polypeptide is encod
246 C-RPE models to gene editing, which produced premature stop codons specifically within the mutant BES
248 trons or intron fragments, mainly generating premature stop codons, such that the only potentially fu
249 (ET-37; ST-11), but the sequence contains a premature stop codon, suggesting that the protein may no
250 alternative splicing events create RNAs with premature stop codons, suggesting that alternative splic
251 Analysis of several mRNA targets containing premature stop codons suggests that in translation repre
252 nsfection of some ORF2 constructs containing premature stop codons supported low levels of Alu retrot
253 on affected a single allele and introduced a premature stop codon that deletes the distal extracellul
254 nsense base substitution, which results in a premature stop codon that generates a truncated form of
256 site, leading to a frameshift mutation and a premature stop codon that renders a truncated protein pr
257 nt is homozygous for a mutation leading to a premature stop codon that truncates the KERA protein.
258 in the open reading frame of Ma1 leads to a premature stop codon that truncates the protein by 84 am
261 2 proteins of mammalian IAVs frequently have premature stop codons that are expected to cause truncat
262 the M2-1 protein was examined by engineering premature stop codons that caused truncations of 17, 46,
263 n multiple ways: for example, by introducing premature stop codons that either lead to the production
264 uded nine amino acid substitutions and seven premature stop codons that impair the physiological func
265 e encoded proteins were predicted to specify premature stop codons that would lead to gC proteins tha
266 tion of the release factor mRNA containing a premature stop codon, the full length protein negatively
267 etect and eliminate frameshift mutations and premature stop codons to compute the substitution rates
269 frame shift in the transcript, introducing a premature stop codon truncating the putative CRX peptide
270 es of Pde6b were identified: Three generated premature stop codons, two were missense mutations, and
272 Iowa strain, a single mutation introduced a premature stop codon upstream from region encoding the p
273 our data also imply that patients carrying a premature stop codon versus missense mutations will like
274 ous bp change, c.463 G>A, which results in a premature stop codon (W127X), was found in one, and in t
275 58 of exon-2, resulting in the formation of premature stop codons W328X, W326X, and W328X, of the GC
283 CD8(+) T cell recognition were not observed, premature stop codons were observed in 7% and 56% of tax
284 pressor genes exhibiting increased levels of premature stop codons whereas oncogenes have the opposit
285 tion is predicted to cause a frame shift and premature stop codon which truncates the transmembrane a
286 at1-1 mutant, a T-DNA insertion introduces a premature stop codon, which likely results in the produc
287 O A) mutation (A863T) in exon 8 introduced a premature stop codon, which produced MAO A/B double knoc
288 e resultant net loss of an exon introduces a premature stop codon, which, in turn, leads to the gener
289 rapid degradation of target mRNA containing premature stop codons, which are the most frequently use
290 variants in almost 1000 genes, including 62 premature stop codons, which represent candidate knockou
291 regulates its production by its action on a premature stop codon, while positively regulating its pr
293 in Col x Bur populations of Arabidopsis to a premature stop codon within TBP-ASSOCIATED FACTOR 4b (TA
295 arfing alleles Rht-B1d and Rht-B1e introduce premature stop codons within the amino-terminal coding r
298 ribotype 078 harbouring mutations leading to premature stop codons within the master regulator, Spo0A
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