ライフサイエンスコーパス: nonsense mutation

1 ell line from a CHM patient harbouring a TAG nonsense mutation.

2 n which Slurp2 was inactivated with a simple nonsense mutation.

3 nd restoration of RP2 function for the R120X nonsense mutation.

4 ts suffering from genetic diseases caused by nonsense mutations.

5 the treatment of genetic diseases linked to nonsense mutations.

6 us laevis oocytes for eight missense and two nonsense mutations.

7 l protein production from genes disrupted by nonsense mutations.

8 at a broad range of genetic disorders due to nonsense mutations.

9 al type VII collagen in RDEB cells harboring nonsense mutations.

10 We compared molecular phenotypes of GABRG2 nonsense mutations.

11 tradermal gentamicin in 5 RDEB patients with nonsense mutations.

12 mutations in ADAMTSL4, including four novel nonsense mutations.

13 recisely model over 32,000 cancer-associated nonsense mutations.

14 y available treatment for RDEB patients with nonsense mutations.

15 es were nonsynonymous mutations and two were nonsense mutations.

16 ngths, complicating the process of detecting nonsense mutations.

17 vels are reduced in patients carrying ZBTB24 nonsense mutations.

18 ations, including 8 frameshift mutations, 10 nonsense mutations, 4 splice site mutations, 1 deletion,

19 Of these, 21 (2 frameshift mutations, 4 nonsense mutations, 4 splice site mutations, 1 deletion,

20 (19%): 29 missense mutations, 10 indels, 14 nonsense mutations, 9 frameshift mutations, and 5 splice

21 that the mutations carried by the patients-a nonsense mutation, a frameshift duplication, and five di

22 R388 or a separate nonsense mutation act dominantly and are furthermore suf

23 tical phenotypes, we identified a homozygous nonsense mutation and a compound heterozygous mutation.

24 uals identified two cases harboring the same nonsense mutation and a further three unrelated individu

25 In family 3, we found a nonsense mutation and a single-nucleotide duplication on

26 le-exome sequencing to identify a homozygous nonsense mutation and an in-frame multiexon deletion in

27 tivity in mdx mouse myotube cells carrying a nonsense mutation and induced significant amounts of dys

28 NGS revealed 198 missense/nonsense mutations and 76 small indels in 76.4% of patie

29 ommon disease causing mutations in MECP2 are nonsense mutations and are responsible for over 35% of a

30 ct in the EPM2A gene, including missense and nonsense mutations and deletions.

31 ions and in-frame indels] versus truncating [nonsense mutations and frameshift indels]) and systemati

32 opical and intradermal gentamicin suppresses nonsense mutations and induces type VII collagen and AFs

33 RP2 patients frequently present with nonsense mutations and no treatments are currently avail

34 mmalian ribosome to suppress disease-causing nonsense mutations and partially restore the expression

35 mmalian ribosome to suppress disease-causing nonsense mutations and partially restore the expression

36 the treatment of genetic diseases caused by nonsense mutations and possessing low affinity toward mi

37 2 deleterious mutations (1 splice site and 1 nonsense mutation) and 1 missense mutation.

38 utation animal model of CHM harbouring a TAA nonsense mutation, and (2) a primary human fibroblast ce

39 lar variations (two single-base deletions, a nonsense mutation, and a canonical splice-site mutation)

40 included heterozygous splice site mutations, nonsense mutations, and a 1-bp insertion mutation, leadi

41 Homozygous exonic deletions, nonsense mutations, and frameshift mutations in five fur

42 nonsynonymous mutations, MLL2 with different nonsense mutations, and PLCG1 with a recurrent nonsynony

43 cts harboring seven different PXE-associated nonsense mutations, and was evaluated by immunofluoresce

44 -414: (1) the chm(ru848) zebrafish, the only nonsense mutation animal model of CHM harbouring a TAA n

45 terations in SETD2, including frameshift and nonsense mutations, are present at 12% in a large de nov

46 We identified 120 missense/nonsense mutations as well as 60 insertions/deletions af

47 MRI analysis of patients with missense and nonsense mutations as well as FOXC1-encompassing segment

48 M-deficient cells containing disease-causing nonsense mutations, as demonstrated by direct measuremen

49 truncated gamma2 subunits produced by GABRG2 nonsense mutations associated with epilepsy of different

50 four affected children were homozygous for a nonsense mutation at glutamate 210 (E210X) in the NEFL g

51 s of a series of mouse cell lines carrying a nonsense mutation at ND5 gene.

52 All 17 non-H2S-producing isolates had a nonsense mutation at position 1621 of phsA.

53 Sequencing of Irs1 identified a nonsense mutation at serine 57 (S57X), resulting in comp

54 that can induce PTC readthrough and suppress nonsense mutations at high concentrations.

55 as therapies for genetic disorders caused by nonsense mutations, because of their capacity to enhance

56 acerbate the phenotype of certain pathogenic nonsense mutations by preventing the expression of semi-

57 Cells can avoid the effects of so-called 'nonsense' mutations by several methods, including a newl

58 ples from hearing-impaired family members, a nonsense mutation c.3112C>T (p.Arg1038*) within adenylat

59 nconi anemia complementation gene M (FANCM), nonsense mutation c.5101C>T (p.Q1701X) was significantly

60 cups derived from a patient carrying an RP2 nonsense mutation c.519C > T (p.R120X), which lack detec

61 fibroblasts from an RP2 patient carrying the nonsense mutation c.519C>T (p.R120X) into induced plurip

62 Almost all NPPK patients carry the founder nonsense mutation c.796C>T (p.Arg266Ter) in the last exo

63 The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339( *)]).

64 eletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339( *)]).

65 date gene sequencing identified a homozygous nonsense mutation (c.1135G>T [p.Glu379X]) in ILDR1 as th

66 This sequencing revealed a homozygous GNB3 nonsense mutation (c.124C>T; p.Arg42Ter).

67 ariants in KIZ: one with the same homozygous nonsense mutation (c.226C>T [p.Arg76( *)]) and another w

68 d the fourth individual had a nearby de novo nonsense mutation (c.3070C>T [p.Arg1024 *]).

69 The same de novo nonsense mutation (c.3385C>T [p.Arg1129 *]) was observed

70 hese subjects harbors a maternally inherited nonsense mutation (c.496C>T [p.Arg166*]) and a de novo s

71 ygosity on chromosome 6 and had a homozygous nonsense mutation (c.662C-->A, p.S221X) in NT5E, encodin

72 d a mutant zebrafish model with a homozygous nonsense mutation (c.706 C > T; p.Q236X) in exon 8 of ct

73 Two nonsense mutations (c.363C>A [p.Tyr121( *)] and c.1018C>

74 ied two different cosegregating heterozygous nonsense mutations (c.370C>T [p.Arg124*] and c.1066G>T [

75 ffected with RCD and identified a homozygous nonsense mutation, c.226C>T (p.Arg76( *)), in KIZ, which

76 individuals uncovered a second heterozygous nonsense mutation, c.2557C>T (p.Arg853( *)), in one simp

77 We report and characterize a novel nonsense mutation, c.3223delG (p.V1075Yfs*2), which lead

78 and exome sequencing identifies a homozygous nonsense mutation, c.496C>T (p.Arg166X), in a gene, KCNJ

79 tion, c.947delA (p.Lys316Serfs( *)90), and a nonsense mutation, c.850C>T (p.Arg284( *)), respectively

80 nesis imperfecta, we identified a homozygous nonsense mutation, c.884C-->A, p.Ser295*.

81 Homozygous TWIST2 nonsense mutations, c.324C>T and c.486C>T, were identifi

82 Accordingly, nonsense mutations cause some of the most severe forms o

83 However, nonsense mutations caused membrane anchor loss in three

84 Here, we identified a CmOr nonsense mutation (Cmor-lowbeta) that lowered fruit beta

85 Eligible patients with nonsense-mutation cystic fibrosis (aged >/= 6 years; abn

86 e lung function in the overall population of nonsense-mutation cystic fibrosis patients who received

87 cacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis.

88 to neurofibromatosis type 1 based on an NF1 nonsense mutation detected in this patient.

89 One patient, heterozygous for a PKP2 nonsense mutation, developed severe heart failure and un

90 Boys aged 7-16 years with nonsense mutation DMD and a baseline 6-minute walk dista

91 d safety of ataluren in ambulatory boys with nonsense mutation DMD.

92 In contrast, the nonsense mutations E418X and R635X observed in 3 patient

93 king acylated anthocyanins, Vv3AT contains a nonsense mutation encoding a truncated protein that lack

94 dentified a new causative gene, GNAL, with a nonsense mutation encoding p.Ser293* resulting in a prem

95 e numbers of genetic disorders are caused by nonsense mutations for which compound-induced readthroug

96 There were zero false-positive calls of nonsense mutations, frameshift mutations, or genomic rea

97 Null alleles with ACC2 nonsense mutations, frameshift mutations, small deletion

98 X) of the PRKAR1A gene, several missense and nonsense mutations have been observed recently in acrody

99 Similarly, a Dyrk2 nonsense mutation identified in breast cancer compromise

100 Strikingly, the Rbfox2 nonsense mutation identified in HLHS patients truncates

101 ncated variants resulting from low-frequency nonsense mutations identified in humans.

102 g two 2-bp-deletion mutations, the first non-nonsense mutations identified.

103 encing, we identified a de novo heterozygous nonsense mutation in a gene encoding thyroid hormone rec

104 We identified a spontaneous nonsense mutation in a known Esx-1-associated gene which

105 The remaining variant was a nonsense mutation in a predicted gene, C9orf75, renamed

106 re heterozygous variants, including an early nonsense mutation in a proband with femorogluteal lipody

107 rst ADAMTSL4 mouse model, tvrm267, bearing a nonsense mutation in Adamtsl4.

108 uent next-generation sequencing identified a nonsense mutation in AGBL1 in the 15q locus; this mutati

109 novel neurofilament light polypeptide (NEFL) nonsense mutation in all affected members.

110 , we traced tail loss in human marapsin to a nonsense mutation in an ancestral ape, compared substrat

111 The recently described CDSN nonsense mutation in another PSS family also resulted in

112 adaptor protein complex 4 (AP4) subunits: a nonsense mutation in AP4S1 (NM_007077.3: c.124C>T, p.Arg

113 d not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).

114 ence that one of the identified mutations, a nonsense mutation in bmp1a, underlies the welded mutant

115 We established a zebrafish line with a nonsense mutation in brca2 exon 11 (brca2(Q658X)), a mut

116 mycin as was a DeltabrlR mutant because of a nonsense mutation in brlR.

117 Sequence analysis identified a homozygous nonsense mutation in CEP19, the gene encoding the ciliar

118 nges in DCLRE1C and IL7R; and a heterozygous nonsense mutation in CHD7.

119 nin T (ssTnT encoded by TNNT1 gene) due to a nonsense mutation in codon Glu(180) causes a lethal form

120 JH1 interval and subsequent SNP validation a nonsense mutation in CWC15 was identified as the likely

121 in sapje, a zebrafish line with a recessive nonsense mutation in dystrophin.

122 nse mutation in combination with a recurrent nonsense mutation in ENPP1 was discovered in a pediatric

123 A nonsense mutation in ERCC5 discovered in both the primar

124 We identified a heterozygous nonsense mutation in exon 1 of CTLA4.

125 exome sequencing, we identified a homozygous nonsense mutation in exon 2 of FAM20A that was not prese

126 ckout mice (Slurp1X(-/-) mice) with a simple nonsense mutation in exon 2.

127 is LMS (McLMS) is weakly expressed and has a nonsense mutation in exon 3.

128 mically induced mutant, nmf192, that bears a nonsense mutation in exon 4 of Nphp4.

129 epidermolysis bullosa revealed a homozygous nonsense mutation in exon 6 of EXPH5: c.3917C>G, p.Ser13

130 Herein, we report a novel homozygous nonsense mutation in EXPH5 responsible for an EBS subtyp

131 morphisms in HBGA genes, and in particular a nonsense mutation in FUT2 (G428A), result in resistance

132 All patients contained the same homozygous nonsense mutation in IKBKB (R286X), revealed by whole-ex

133 drome, a lethal disorder that results from a nonsense mutation in IKKA, revealed an absence of peride

134 aled mutations in FMN2, NEB, and SYNE1 and a nonsense mutation in KMT2D, all shared by the FL and B-L

135 In contrast, a nonsense mutation in MEI-1 caused assembly of meiotic sp

136 y, we identified the c.472C>T (p.Arg158( *)) nonsense mutation in MFAP5 encoding the extracellular ma

137 tation of Syb1 resulting from a spontaneous, nonsense mutation in mice significantly impairs the func

138 Homozygous knockin mice with a nonsense mutation in Mypn showed Z-streaming and nemalin

139 hromosomal variants, we identified a de novo nonsense mutation in NDUFB11 (Xp11.23) in one female ind

140 Sse(A+) SpeB(A+) isolate identified a C605A nonsense mutation in orphan kinase gene rocA, and 6 othe

141 We have reported a nonsense mutation in PIK3R1, which encodes the regulator

142 This identified a homozygous nonsense mutation in PLDN in a boy with characteristic f

143 A rare heterozygous nonsense mutation in PNKD was co-segregated with TD in t

144 ine-dependent epilepsy revealed a homozygous nonsense mutation in proline synthetase co-transcribed h

145 One patient was homozygous for a novel nonsense mutation in PSMB8 (c.405C>A), suggesting a prot

146 In addition, a nonsense mutation in RPS6KA3 was found in one patient in

147 A nonsense mutation in SLC16A12 (c.643C>T; p.Q215X) causes

148 A germline heterozygous nonsense mutation in SUFU was identified in one of four

149 gh-persistence phenotype was attributed to a nonsense mutation in the 3' end of the shpB gene encodin

150 60 cells, which we show contain a hemizygous nonsense mutation in the Arkadia/RNF111 gene, efficientl

151 amilies, we identified a homozygous germline nonsense mutation in the base-excision repair (BER) gene

152 82 and TX6051 and found a single mutation, a nonsense mutation in the ccpA gene of TX6051.

153 ional studies based on a patient harboring a nonsense mutation in the common part of the MASP1 gene a

154 ed skin fragility disorder with a homozygous nonsense mutation in the dystonin gene (DST) that encode

155 perties were shown to be due to a homozygous nonsense mutation in the EFG1 gene.

156 whole exome sequencing revealed a homozygous nonsense mutation in the ERCC6L2 gene.

157 The nonsense mutation in the FAM136A gene leads to a stop co

158 e Treg cell deficiency was found to harbor a nonsense mutation in the gene encoding LPS-responsive be

159 We detected a nonsense mutation in the gene encoding the transcription

160 OA in osteoclastogenesis, using mice with a nonsense mutation in the Gpnmb gene (D2J) and wild-type

161 th epilepsy of different severities and by a nonsense mutation in the last exon unassociated with epi

162 ified an outbreak lineage characterized by a nonsense mutation in the mismatch repair component MSH2.

163 zygous frameshift mutations and a homozygous nonsense mutation in the mitogen-activated protein tripl

164 Here we report a patient with a homozygous nonsense mutation in the MKL1 gene resulting in immunode

165 We have previously demonstrated that a nonsense mutation in the NPC2 gene, which encodes ubiqui

166 differ by a single base pair, which causes a nonsense mutation in the putative methyltransferase gene

167 we describe a new zebrafish model carrying a nonsense mutation in the rpgrip1 gene.

168 educed sensitivity to ethylene and carries a nonsense mutation in the single pea (Pisum sativum) orth

169 es within this region, we found a homozygous nonsense mutation in the SPATA7 gene in Saudi Arabian fa

170 by a pineal complex phenotype, and carries a nonsense mutation in the T-box domain of the tbx2b trans

171 Affected mice had a nonsense mutation in the thyroid hormone receptor intera

172 that suppression is highly correlated with a nonsense mutation in the US9 gene, which plays a critica

173 eatment and drug-resistant tumors revealed a nonsense mutation in TSC2, a negative regulator of mTOR,

174 ants, while the remaining mutant contained a nonsense mutation in uhpA The expression of uhpT was abs

175 We previously identified a nonsense mutation in Vaccinia-related kinase 1 (VRK1), R

176 us, our results suggest that read-through of nonsense mutations in ABCC6 by PTC124 may have potential

177 ome of the most sensitive accessions contain nonsense mutations in ACC2, including the "Nossen" line

178 Twelve missense or nonsense mutations in AIRE and two chimeric AIRE constru

179 uence variants revealed homozygosity for two nonsense mutations in ALDH1A3, c.568A>G, predicting p.Ly

180 were compound heterozygotes for two distinct nonsense mutations in ANGPTL3 (encoding the angiopoietin

181 ion of suppressor tRNAs or identification of nonsense mutations in any of the archaeal genes.

182 ed from skin biopsies of patients harbouring nonsense mutations in AP5Z1 and presenting with spastic

183 We report that homozygous nonsense mutations in APP are associated with decreased

184 Strains with nonsense mutations in chlamydial cytotoxins, guaBA-add,

185 Since over 30% of patients harbour nonsense mutations in CHM, nonsense suppression therapy

186 Nonsense mutations in CLN1 account for 52.3% of all dise

187 the recessive UCMD cases have frameshift or nonsense mutations in COL6A1, COL6A2, or COL6A3, recessi

188 s may parallel the role of CREBBP frameshift/nonsense mutations in DLBCL that result in loss of the p

189 ping is capable of correcting frameshift and nonsense mutations in Duchenne muscular dystrophy.

190 Patients with nonsense mutations in dystrophin are specifically target

191 We identified heterozygous nonsense mutations in four and potentially disease-causi

192 Here we focused on three nonsense mutations in GABRG2 (GABRG2(R136*), GABRG2(Q390

193 are frequently associated with epilepsy, and nonsense mutations in GABRG2 are associated with several

194 Nonsense mutations in genes that are involved in histone

195 In addition, we identified FAM83H nonsense mutations in Hispanic (C1330C>T; p.Q444X) and C

196 rt a syndrome caused by de novo heterozygous nonsense mutations in KAT6A (a.k.a., MOZ, MYST3) identif

197 leads to increased frequencies of recurrent nonsense mutations in key tumor suppressors such as TP53

198 ecules that induce ribosomal read-through of nonsense mutations in mRNA and allow production of a ful

199 isease due to heterozygosity for missense or nonsense mutations in MYH3, which encodes embryonic myos

200 Nonsense mutations in Nav.1.7, the main pain signaling v

201 Eight missense mutations and 3 nonsense mutations in NBCe1-A cause severe proximal rena

202 helial cells (ECs) to show that heterozygous nonsense mutations in NOTCH1 that cause aortic valve cal

203 In 2 subjects,we found nonsense mutations in RNF43, indicating that it is also

204 al therapeutic functions in the treatment of nonsense mutations in the ATM and the dystrophin genes.

205 ation, frameshift, missense, splice-site and nonsense mutations in the Chordin-like 1 gene (CHRDL1) o

206 ically caused by frame-shifting deletions or nonsense mutations in the gene encoding dystrophin and c

207 n a subset of patients, this is explained by nonsense mutations in the gene encoding filaggrin (FLG).

208 are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskel

209 Nonsense mutations in the last exon do not activate NMD,

210 cell (hiPSC)-derived cardiomyocytes bearing nonsense mutations in the sodium channel gene SCN5A, whi

211 p53) mutations, in cells from patients with nonsense mutations in the TPP1 (tripeptidyl peptidase 1)

212 orted two unrelated families with homozygous nonsense mutations in this DST isoform that led to ultra

213 we sequenced and identified likely causative nonsense mutations in two and candidate mutations in the

214 mined, revealing four independently acquired nonsense mutations in two other ApiAP2 genes, and five i

215 tly found compound heterozygous missense and nonsense mutations in WDR35 in an independent second cas

216 wo homozygous mutations, a splice-site and a nonsense mutation, in two consanguineous families of Bed

217 ived from the individuals with TD due to the nonsense mutation, indicating nonsense-mediated mRNA dec

218 -targeting system by introducing an in-frame nonsense mutation into the coding sequence of Cre recomb

219 Disease severity associated with nonsense mutations is dependent partially on mutation ge

220 A strategy to overcome disease-causing nonsense mutations is treatment with nonsense mutation s

221 variation of ARHGAP29 translates to an early nonsense mutation (K326X), presumably resulting in loss-

222 The seventh patient had a nonsense mutation leading to a premature stop codon muta

223 NOTCH aberrations include frameshift and nonsense mutations leading to receptor truncations as we

224 The nonsense mutation leads to an early truncation of the G

225 The nonsense mutation leads to very low levels of HSD17B4 tr

226 amily, Sanger sequencing of MASP1 revealed a nonsense mutation, MASP1 c.870G>A (p.W290X), that also c

227 From the genome data, the rare nonsense mutations may not contribute to fecundity, wher

228 This nonsense mutation model recapitulates the molecular, his

229 currently used mouse model, twitcher, has a nonsense mutation not found in Krabbe patients, although

230 have shown that mice homozygous for the Aspa nonsense mutation Nur7 also develop brain vacuolation.

231 ct, we found a common haplotype on which the nonsense mutation occurred and that segregates in the As

232 es revealed a truncated variant with a G216* nonsense mutation of the 408-amino-acid TC0668 protein t

233 ysis revealed a single pathogenic homozygous nonsense mutation of the caspase recruitment domain 11 (

234 Positional cloning revealed a nonsense mutation of tln1 in this mutant.

235 NGS identified somatic nonsense mutations of AT-rich interactive domain 1A (SWI

236 We assessed the effect of the nonsense mutation on mRNA levels and evaluated the NMJ t

237 entifies previously unidentified missense or nonsense mutations on both alleles in all affected subje

238 d 6 other Sse(A+) SpeB(A+) isolates also had nonsense mutations or small indels in rocA RocA and CovS

239 We introduced a nonsense mutation originally identified in a child with

240 PK4 that resulted in the introduction of the nonsense mutation p.Ser376X into the encoded ankyrin rep

241 ted for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 o

242 ition mutation (c.55T>C), which results in a nonsense mutation (p.Arg19X) in alternatively spliced ex

243 We subsequently identified a nonsense mutation (p.E245X) in SERPINB6, which is locate

244 exome sequencing (WES) revealed a homozygous nonsense mutation (p.R1105X) of the AP4E1 gene, which wa

245 ized a new mouse model containing a knock-in nonsense mutation (p.R255X) in the Mecp2 locus (Mecp2(R2

246 ere found in C2ORF71 in human RP patients: A nonsense mutation (p.W253X) in the first exon is likely

247 284S, p.R288S, p.G301R, p.P425S), three were nonsense mutations (p.Q51X, p.Y149X, p.C156X), three wer

248 es led to the identification of 3 homozygous nonsense mutations (p.R181X, p.S297X, and p.Q414X) in SL

249 ally diagnosed with OTCS, revealed a de novo nonsense mutation, p.Q638*, in the MAGEL2 gene.

250 ed that in case of the most common recurrent nonsense mutation, p.R1141X, the read-through may result

251 We describe homozygous nonsense mutation, p.S24X, and homozygous splice site mu

252 In family 2, we identified a homozygous nonsense mutation predicted to produce truncated WNT1.

253 The location of the nonsense mutations predicts escape of mutant ZIC1 transc

254 in of 11 rationally selected factor IX (FIX) nonsense mutations, present in 70% (324/469) of hemophil

255 In addition to nonsense mutations, proinflammatory cytokines and some d

256 One gene, ABCG5, had two nonsense mutations (Q16X and R446X).

257 The GABA(A) receptor gamma2 subunit nonsense mutation Q351X has been associated with the gen

258 lt, three were loss-of-function mutations: a nonsense mutation (R19X) and two splice-site mutations (

259 These consisted of a novel nonsense mutation R39X; a missense mutation, R47L in two

260 G); this splicing mutation compounded with a nonsense mutation (R523>X) and abolished SCN9A mRNA expr

261 to knock-down gene expression and drugs for nonsense mutation read-through.

262 Here, we expressed multiple nonsense mutation reporters in human cells and yeast and

263 Although all GABRG2 nonsense mutations resulted in loss of gamma2 subunit su

264 e positively selected SNPs, four represented nonsense mutations resulting in stop codons, three of th

265 As in other vertebrates, this nonsense mutation results in eyeless animals, and is let

266 0(-7) and p = 1.5x10(-6) respectively) and a nonsense mutation rs3211938 within CD36 is associated wi

267 Homozygotes (A/A) for the common nonsense mutation rs601338A>G (W143X) are nonsecretors a

268 three are splicing site mutations, four are nonsense mutations, seven are missense mutations, two ar

269 by genes that harboured de novo missense or nonsense mutations showed a higher degree of connectivit

270 o inactivate the gene product as a result of nonsense mutations, splice site mutation, or out-of-fram

271 Mecp2(R255X) embryonic fibroblasts with the nonsense mutation suppressing drug gentamicin and we wer

272 causing nonsense mutations is treatment with nonsense mutation suppressing drugs that allow expressio

273 f Pax6 dosage through a mutation-independent nonsense mutation suppression strategy would limit progr

274 ct indicated that a CD36 haplotype bearing a nonsense mutation (T1264G; rs3211938) had undergone rece

275 A homozygous nonsense mutation (Ter) in murine Dnd1 (Dnd1(Ter/Ter)) r

276 eighth amino acid of the GnRH decapeptide, 1 nonsense mutation that causes premature termination with

277 n in the catalytic domain and the other is a nonsense mutation that eliminates the catalytic domain.

278 analysis of NRT1.1 in the mutant revealed a nonsense mutation that truncated the NRT1.1 protein at a

279 These include five nonsense mutations that generate C-terminal truncations

280 error prone, often generating frameshift or nonsense mutations that render the rearranged TCR and Ig

281 Development of aniridia is linked with nonsense mutations that result in paired box 6 (PAX6) ha

282 proteins, we focused on variations that are nonsense mutations that ultimately resulted in a gain of

283 it is being actively pursued as a potential nonsense mutation therapy.

284 and rapidly degrades transcripts harbouring nonsense mutations to limit accumulation of non-function

285 Nonsense mutations underlie about 10% of rare genetic di

286 A homozygous nonsense mutation was identified in exon 1 of the TYR ge

287 y of this drug to facilitate read-through of nonsense mutations was examined in HEK293 cells transfec

288 g sequences, removal of sequences containing nonsense mutations was found to be a valuable filter in

289 The inhibitor risk in large deletions and nonsense mutations was higher than in intron 22 inversio

290 y test the ability of PTC124 to read through nonsense mutations, we conducted a detailed assessment c

291 sruption of protein function: frameshift and nonsense mutations were classified as "null," whereas mi

292 SPEN nonsense mutations were detectable in the ERalpha-expres

293 or drugs developed to allow read-through of nonsense mutations, whereas other therapies deal with se

294 There are also nonsense mutations, which act as the equivalent of a nul

295 in production in genetic disorders caused by nonsense mutations, which are the cause of cystic fibros

296 r with cystic fibrosis and at least one CFTR nonsense mutation, who were enrolled in the trial betwee

297 se of gentamicin to suppress disease-causing nonsense mutations will require their long term administ

298 ering from multiple genetic disorders due to nonsense mutations with a single small-molecule drug tha

299 ransgene were mutagenized to create a single nonsense mutation within the open reading frame of each

300 scular dystrophy patient myotubes carrying a nonsense mutation within the SYNE1 gene (23560 G>T) enco