ライフサイエンスコーパス: nonsense mutation

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

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

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

4 vels are reduced in patients carrying ZBTB24 nonsense mutations.

5 ent, the majority of which are frameshift or nonsense mutations.

6 ts suffering from genetic diseases caused by nonsense mutations.

7 we could effectively recapitulate oncogenic nonsense mutations.

8 the treatment of genetic diseases linked to nonsense mutations.

9 l protein production from genes disrupted by nonsense mutations.

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

11 We compared molecular phenotypes of GABRG2 nonsense mutations.

12 mutations in ADAMTSL4, including four novel nonsense mutations.

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

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

15 tradermal gentamicin in 5 RDEB patients with nonsense mutations.

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

17 y available treatment for RDEB patients with nonsense mutations.

18 which 2 377 103 are missense and 161 928 are nonsense mutations.

19 ngths, complicating the process of detecting nonsense mutations.

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

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

22 (19%): 29 missense mutations, 10 indels, 14 nonsense mutations, 9 frameshift mutations, and 5 splice

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

24 a partial gene deletion, a frameshift, three nonsense mutations, a single amino acid duplication, a r

25 , but not in early endosomes, suggesting the nonsense mutation affects ClC-5 maturation and trafficki

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

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

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

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

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

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

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

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

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

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

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

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

38 For metronidazole, nonsense mutations and R16H substitutions in rdxA correl

39 2 deleterious mutations (1 splice site and 1 nonsense mutation) and 1 missense mutation.

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

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

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

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

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

45 -414: (1) the chm(ru848) zebrafish, the only nonsense mutation animal model of CHM harbouring a TAA n

46 6); the three nonsense mutations are predicted to lead to premature te

47 The nonsense mutations are spread along the TRIO sequence, a

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

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

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

51 , we targeted mouse Mpz to encode P0Q215X, a nonsense mutation associated with the disease, that we s

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

53 A nonsense mutation at codon Glu180 of TNNT1 gene causes A

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

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

56 e their resistance to SCN carry missense and nonsense mutations at the GmSHMT08c, but none of the Gms

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

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

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

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

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

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

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

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

65 ations explain the vast majority of cases: a nonsense mutation c.880A>T (p.Lys294*) identified in 22

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

85 However, nonsense mutations caused membrane anchor loss in three

86 a novel mouse model bearing a CDD-associated nonsense mutation, CDKL5 R59X, implicating the translati

87 show that CHM mRNA expression in blood from nonsense mutation CHM patients is 2.8-fold lower than co

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

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

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

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

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

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

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

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

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

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

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

99 ve negative selection acting on missense and nonsense mutations, except for mutations previously obse

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

125 A nonsense mutation in ERCC5 discovered in both the primar

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

151 60 cells, which we show contain a hemizygous nonsense mutation in the Arkadia/RNF111 gene, efficientl

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

153 82 and TX6051 and found a single mutation, a nonsense mutation in the ccpA gene of TX6051.

154 For example, a nonsense mutation in the coding gene for the histamine-s

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

156 Notably, we identify a homozygous nonsense mutation in the DALRD3 gene that impairs m3C fo

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

158 Here, we identified a nonsense mutation in the Eml1 gene in a novel murine mod

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

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

161 e identify the cause of this difference as a nonsense mutation in the filamin gene fln-2 in the male

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

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

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

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

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

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

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

169 Here, we show that am117 is a nonsense mutation in the phm-2 gene, which encodes a pro

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

171 E and a single-guide RNA targeting a de novo nonsense mutation in the Rpe65 gene corrects the pathoge

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

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

174 addition, brown midrib 12-ref (bmr12-ref), a nonsense mutation in the sorghum caffeic acid O-methyltr

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

176 The detected new nonsense mutation in the TYMP gene would be very importa

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

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

179 tudies revealed a novel, private, homozygous nonsense mutation in TYMP gene (c.

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

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

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

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

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

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

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

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

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

189 nd compound heterozygous JBTS5 patients with nonsense mutations in CEP290 and show that elongation of

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

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

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

193 In patients, nonsense mutations in complex IV subunit genes cause sev

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

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

196 Patients with nonsense mutations in dystrophin are specifically target

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

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

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

200 Nonsense mutations in genes that are involved in histone

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

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

203 )-induced colitis in mice, we identified two nonsense mutations in Lrba Although T(reg) cells have be

204 More than 35% of affected individuals have nonsense mutations in MECP2.

205 Nonsense mutations in Med15b.D result in expression of s

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

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

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

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

210 cy was found for CFTR missense, deletion and nonsense mutations in nucleotide binding domain-2 (NBD2)

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

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

213 chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-fr

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

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

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

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

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

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

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

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

222 of age and identified compound heterozygous nonsense mutations in TMPRSS9, which encodes for polyser

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

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

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

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

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

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

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

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

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

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

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

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

235 This nonsense mutation model recapitulates the molecular, his

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

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

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

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

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

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

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

243 l and biophysical characterizations of three nonsense mutations of cystic fibrosis transmembrane cond

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

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

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

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

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

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

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

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

252 284S, p.R288S, p.G301R, p.P425S), three were nonsense mutations (p.Q51X, p.Y149X, p.C156X), three wer

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

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

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

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

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

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

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

260 of enzymatic activity (P27S or H50Y), (ii) a nonsense mutation (R150*) or (iii) high turnover rates (

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

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

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

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

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

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

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

268 aged a 12-week-old foetus homozygous for the nonsense mutation RFX6 c.1129C>T, which revealed loss of

269 0(-7) and p = 1.5x10(-6) respectively) and a nonsense mutation rs3211938 within CD36 is associated wi

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

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

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

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

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

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

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

277 Of interest are the AATD nonsense mutations (termed null or Q0), the majority of

278 This result was also found by introducing nonsense mutation that completely dissociated transcript

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

280 n, but how subtler missense substitutions or nonsense mutations that partially truncate its C-termina

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 Besides nonsense mutations, two mutation hotspots were found in

286 Nonsense mutations underlie about 10% of rare genetic di

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

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

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

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

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

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

293 SPEN nonsense mutations were detectable in the ERalpha-expres

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

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

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

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

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