ライフサイエンスコーパス: splice-site mutation

1 ssense (Leu348Arg) mutation and one acceptor splice site mutation.

2 ve transcripts were induced by this targeted splice site mutation.

3 ving an exonic deletion and a novel intronic splice site mutation.

4 +16 splice site mutation and one had the +13 splice site mutation.

5 lerosis associated with a WT1 intron 9 donor splice site mutation.

6 with the expression construct containing the splice site mutation.

7 rtion or deletion, a nonsense mutation, or a splice-site mutation.

8 single-guide RNA (sgRNA) can correct an A>G splice-site mutation.

9 hat exclusively express MPc by inserting the splice-site mutation.

10 missense mutations, two frameshifts and one splice-site mutation.

11 l insertions, one intronic mutation, and one splice-site mutation.

12 ant alleles including six nonsense and three splice site mutations.

13 revealed nonsense, missense, frameshift, and splice site mutations.

14 es established from XHIM patients with leaky splice site mutations.

15 etions, insertions, a deletion/insertion and splice site mutations.

16 is a single base pair deletion and four are splice site mutations.

17 an benefit from the "leaky" nature common to splice site mutations.

18 higher risk of malignancy, compared to leaky splice site mutations.

19 g events in c-MET, which are attributable to splice site mutations.

20 ly, certain exons are more susceptible to 5' splice site mutations.

21 ing 16 insertion/deletion, 3 nonsense, and 3 splice-site mutations.

22 itutions resulting in nonsense, missense, or splice-site mutations.

23 mutations, small insertions, deletions, and splice-site mutations.

24 nsense or frameshift mutations to those with splice-site mutations.

25 ion, including nonsense, frameshift and some splice-site mutations.

26 nse mutations, 9 frameshift mutations, and 5 splice-site mutations.

27 damaging (premature termination, frameshift, splice site) mutations.

28 rameshift mutations, 4 nonsense mutations, 4 splice site mutations, 1 deletion, and 10 missense varia

29 ameshift mutations, 10 nonsense mutations, 4 splice site mutations, 1 deletion, and 20 potentially or

30 ment (3%), all leading to frameshifts; and 4 splice-site mutations (11%).

31 genic polymorphisms, as well as a homozygous splice site mutation (1233-2 A-->T; GenBank Z73678) in a

32 as a compound heterozygote for two different splice site mutations, 3053-1G-->C and 3871+1G-->C, affe

33 In addition to numerous frame shift and splice-site mutations, 36 missense mutations have been a

34 top codon mutations (R553X and W1282X) and a splice-site mutation (3849 + 10 kb C > T).

35 (10%), in-frame deletions, and nonsense and splice-site mutations (5% to 7% each).

36 ), a fifth was a compound heterozygote for a splice site mutation (5532 + 1G-to-A) and a single base

37 These mutations included a splice site mutation, a frameshift mutation, two missens

38 We also created a splice-site mutation abolishing Fgf8a-containing splicef

39 in vivo requirement for Fgf8b, we created a splice-site mutation abolishing Fgf8b expression in mice

40 We identify 55 splice site mutations accompanied by aberrant splicing p

41 her density of silencers than exons in which splice-site mutation activated cryptic splice sites.

42 and chromatin modification by asking whether splice-site mutations affect the methylation of histone

43 Two splice site mutations affected the consensus sequence at

44 re-attributes the phenotypes to an essential splice site mutation affecting adgra2 (gpr124) splicing

45 This deletion is the result of an acceptor splice site mutation (AG to AT) in intron 12 that causes

46 f one full exon, was caused by a 3' acceptor splicing site mutation (ag to aa).

47 The splice-site mutations all destabilize a potential stem-l

48 odomain as well as nonsense, frameshift, and splice-site mutations, all predicting severe or complete

49 Two mutations, a 3' splice site mutation and a stop codon mutation, were ide

50 hosts differ from other primate species by a splice site mutation and express the poorly active extra

51 Thirteen of these patients had the +16 splice site mutation and one had the +13 splice site mut

52 NER alterations, including nonsynonymous or splice site mutations and homozygous deletions of NER ge

53 uncation, new pathogenic mechanisms included splice site mutations and missense mutations affecting r

54 und heterozygous DSG4 mutations, including a splice-site mutation and a missense mutation that disrup

55 fied six frameshift, six nonsense, and three splice-site mutations and a 1.5-Mbp deletion encompassin

56 n VLCAD mRNA in patients with frame-shift or splice-site mutations and absent or severe reduction in

57 transcripts was evident in two patients with splice-site mutations and in the patient with the DNA de

58 are important determinants of the outcome of splice-site mutations and may explain some unusual alter

59 deletions, in-frame deletions or insertions, splice-site mutations and non-conservative missense muta

60 al plays an important role in the outcome of splice-site mutations and provide a model that explains

61 Five other mutations (two donor splice-site mutations and three deletions) produce alter

62 One non-sense mutation, one splicing site mutation and seven non-synonymous coding m

63 hrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or M

64 dentified included 9 missense, 5 nonsense, 9 splice site mutations, and 5 deletions/insertions.

65 ligation, disrupting stem IIa suppressed 3' splice site mutations, and disrupting stem IIc impaired

66 ifies exon fusions, splits and losses due to splice site mutations, and finds mappings between microe

67 ified as "null," whereas missense, predicted splice site mutations, and insertion/deletions were clas

68 Missense, nonsense, frameshift, splice site mutations, and large deletions in the human

69 zygote mutations (seven point mutations, two splice site mutations, and one deletion) as well as a ne

70 bp deletion leading to a frameshift, a donor splice-site mutation, and missense mutations in four pat

71 have identified one frameshift mutation, one splice-site mutation, and two missense mutations in high

72 6%): 10 nonsense mutations, 2 frameshifts, 7 splice-site mutations, and 1 large in-frame deletion.

73 onsense mutations, 4 frameshift mutations, 2 splice-site mutations, and 11 missense mutations.

74 missense mutations, 28 years for those with splice-site mutations, and 25 years for those with trunc

75 Suppressors of splice-site mutations, and an intron branch-point crossl

76 sis and one nonsynonymous coding SNV and one splice site mutation appeared to arise de novo in the me

77 used to show that plants homozygous for the splice site mutation are completely devoid of flavonoids

78 of selection toward missense, nonsense, and splice site mutations are derived, along with tests asse

79 include missense, nonsense, frameshift, and splice-site mutations as well as a start codon mutation

80 This splice site mutation, as well as R91W, the most common m

81 d a deletion of exons 9 to 15 in family A, a splice site mutation at position 79+1 of exon 1 in famil

82 issense mutation in exon 3 (T155-->C), (c) a splice site mutation at the 5' end of intron 3, (d) a mi

83 on MEN1 kindred are heterozygous for a donor splice site mutation at the beginning of intron 3 (IVS3

84 Three families had a splice site mutation at the exon 2-intron 2 boundary.

85 We also have characterized a novel splicing site mutation at the RNA level, demonstrating t

86 ating the abnormal processing of mRNA due to splice-site mutations, because: (i) aberrant splicing of

87 siblings were compound heterozygotes with a splice site mutation c.1220 + 1G>C (IVS13 + 1 G>C).

88 verified by Sanger sequencing, identified a splice site mutation c.212 + 1 G > T in the SNX10 gene e

89 ompound heterozygous for p.Gly131Glu and the splice site mutation c.240-1G>C, previously reported in

90 e second family identified a distinct, novel splice site mutation c.643 + 1G > A, that perfectly segr

91 Screening for splice site mutation c.828+3A>T in the peripherin 2 (PRP

92 third family were compound heterozygous for splice-site mutations c.700+1G>T and c.4002+1G>A.

93 identified in the gene FAM65B (MIM611410) a splice site mutation (c.102-1G>A) that perfectly cosegre

94 p.Phe72Tyr]) that segregated in trans with a splice site mutation (c.105+3G>T) in a family with autos

95 ion (c.697T>C) in two siblings, a homozygous splice site mutation (c.555G>A) leading to skipping of e

96 dentified in conjunction with a novel NDUFS2 splice site mutation (c.866+4A>G) in a fourth Caucasian

97 .105C>A+106_124dup, c.189delC) and one was a splice-site mutation (c.1102-2A>G).

98 identified a subject harboring a homozygous splice-site mutation (c.2031-2A>C) in MPO.

99 utation (c.496C>T [p.Arg166*]) and a de novo splice-site mutation (c.2572-2A>G), whereas the other be

100 In the latter case, we found a homozygous splice-site mutation (c.735+2T>C) in CEP104.

101 us nonsense mutation, p.S24X, and homozygous splice site mutation, c.468G>A, in the JUP gene that res

102 ntified two novel compound heterozygous TAF8 splice site mutations, c.45+4A > G and c.489G>A, which c

103 A splice-site mutation, c.7570-1G>C (p.Glu2524_Lys2525del)

104 te of the complex, which is arrested by a 3' splice site mutation, can accept a normal 3' splice site

105 CPAMD8 splice-site mutations caused aberrant pre-mRNA splicing

106 P) gene cause nanophthalmos in humans, and a splice site mutation causes recessive retinal degenerati

107 Patient 1 had a splice-site mutation causing premature termination.

108 ct significantly more often than missense or splice-site mutations (chi(2), P<0.001).

109 The effects of splice-site mutations correlated with enhanced retention

110 ssion in a subset of NSCLC cases, as well as splicing site mutations facilitating exon 16 skipping an

111 A similarly delivered ASO targeting a causal splice site mutation for Usher syndrome corrects gene ex

112 Among them, three are splicing site mutations, four are nonsense mutations, se

113 One had a 5' splice site mutation (G to A) in intron 3 of one allele

114 ur with premature stop codons, one with a 5' splice site mutation, G to A, in intron 3, and one with

115 n for more severe ophthalmic features in the splice site mutation group vs methionine 41 missense mut

116 Results of testing for splice site mutation, haplotypes, and alternate transcri

117 We identified a novel KCNH2 splice site mutation in a large family.

118 This is the first reported homozygous splice site mutation in a patient with factor V deficien

119 enital adrenal hyperplasia, and an essential splice site mutation in a proband with partial lipodystr

120 ding a point mutation (Y371H) and a putative splice site mutation in AML specimens.

121 us multiplex family and identified a canonic splice site mutation in ANKS6 associated with an NPHP-li

122 sion of variegation in this line is due to a splice site mutation in ClpC2, a chloroplast Hsp100 chap

123 A splice site mutation in exon 2 of vglut3 results in a se

124 Finally, we report a deletion and a splice site mutation in IFT74, inherited under a recessi

125 su177 is a splice site mutation in intron 1, which is specific to o

126 nhances the phenotype conferred by an unc-52 splice site mutation in intron 16.

127 ressing PLCG2 without exons 18-19, carried a splice site mutation in intron 19.

128 An acceptor splice site mutation in intron 2 of the beta-PDE gene le

129 The authors have previously reported a 3' splice site mutation in intron 2 of the rod cyclic guano

130 's genomic DNA had a previously described 5' splice site mutation in intron 24, GGT --> GTT (maternal

131 GGT --> GTT (maternal allele), and a new 3' splice site mutation in intron 3, CAG --> CAA (paternal

132 gous for a second Aalpha mutation, a GT-->TT splice site mutation in intron 4 (IVS4 + 1 G> T).

133 ied a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a know

134 We identified a heterozygous germline splice site mutation in PIGT and a somatic 8-MB deletion

135 most unspliced precursors generated by a 5' splice site mutation in RPS10B, and limits RPS29B unspli

136 We now report the identification of a 3' splice site mutation in SCNN1G (318-1 G-->A) in three fa

137 rmined that the causative defect in pn was a splice site mutation in the atp6ap2 gene that leads to a

138 A splice site mutation in the canine pyruvate dehydrogenas

139 Using exome sequencing, we identified a rare splice site mutation in the DGAT1 gene and found that bo

140 and all patients have an intronic IVS20+6T>C splice site mutation in the IKBKAP gene, which results i

141 cluding Val9Met, Val102Ile, Arg282Cys, and a splice site mutation in the intron between exons 6 and 7

142 eleted laminin alpha2-chain as a result of a splice site mutation in the LAMA2 gene which causes the

143 The mouse mutant medJ contains a splice site mutation in the neuronal sodium channel Scn8

144 In a PJS patient having a germline splice site mutation in the STK11/LKB1 gene, sequencing

145 ants, including rare or uncommon missense or splice site mutations in 9 and homozygous synonymous var

146 This case, dealing with out-of-frame splice site mutations in BPAG2/COL17A1, attests to the m

147 identified deletions, nonsense mutations and splice site mutations in SVAS patients that abolish the

148 Splice site mutations in the COL1A2 gene of type I colla

149 ity results from compound heterozygosity for splice site mutations in the COL1A2 gene, and, in the th

150 ation of missense, nonsense, frameshift, and splice site mutations in the GlyT2 gene as the second ma

151 Missense and splice site mutations in the microtubule-associated prot

152 terns of two-intron constructs containing 5' splice site mutations in the second intron.

153 dependently recapture known variants such as splice site mutations in tumor suppressor genes as well

154 tein truncation in six of eight patients and splice site mutations in two, all of which disrupt one o

155 A conserved splice-site mutation in 1 copy of the suppressor of fuse

156 andidate transcripts identified a homozygous splice-site mutation in a previously unknown BBS8 exon.

157 We found a splice-site mutation in a single individual, and we dete

158 Patients are homozygous for a splice-site mutation in ABCC9 (c.1320 + 1 G > A), which

159 s and primary progressive aphasia and a near splice-site mutation in CLCN6 (p.S116P) segregating with

160 This report documents a novel splice-site mutation in COL17A1 in a patient with genera

161 A splice-site mutation in exon 12 accounts for 3% of the W

162 This TULP1 splice-site mutation in homozygotes causes early-onset,

163 g mutation and the likely transcripts of the splice-site mutation in human embryonic kidney 293 cells

164 compared with 14% of affected women with the splice-site mutation in intron 5 of BRCA1.

165 and exome sequencing identified a biallelic splice-site mutation in protein C kinase delta (PRKCD),

166 hole-exome sequencing confirmed a homozygous splice-site mutation in SMARCD2.

167 uencing in the patient revealed a homozygous splice-site mutation in STIM1, the gene encoding stromal

168 ied two nonsense mutations and one consensus splice-site mutation in the AP1S2 gene on Xp22 in three

169 We found that a splice-site mutation in the component of the transcripti

170 thin these linkage intervals, a heterozygous splice-site mutation in the dual serine-threonine and ty

171 We also observed an unusual splice-site mutation in the exon 1 5' splice site, which

172 a 5-nucleotide deletion in one family and a splice-site mutation in the other.

173 A splice-site mutation in the patients produced a frameshi

174 eport identification of de novo nonsense and splice-site mutations in another RP, RPS24 (encoded by R

175 NA instability mutation in dwf5-1, 3' and 5' splice-site mutations in dwf5-2 and dwf5-6, respectively

176 aberrant splice sites that were activated by splice-site mutations in human disease genes have lower

177 Splice-site mutations in the beta-globin gene can lead t

178 pression analysis based on RT-PCR revealed a splicing site mutation in the white cauliflower allele.

179 etions, a nonsense mutation, and a canonical splice-site mutation) in the G protein-signaling modulat

180 ations were present in 13.6% of cases (three splice-site mutations); in the clinicopathological refer

181 BCB11 mutations - Glu297Gly (x3) and a donor splice site mutation (intron 19).

182 nse mutations, one nonsense mutation and one splice-site mutation involving the exon 9 acceptor site

183 The PRPH2 c.828+3A>T splice site mutation is a frequent cause of inherited re

184 pe exhibited by patients carrying the PIK3R1 splice site mutation is similar to that of patients carr

185 mutation (a single nucleotide deletion and a splice-site mutation) is predicted to cause haploinsuffi

186 rotein for membranes that, together with the splice site mutation, is expected to cause complete loss

187 riant sets heavily biased to known canonical splice site mutations, it remains unclear how well their

188 site mutation IVS 16-2A > G, and one had the splice site mutation IVS 15-1G > A.

189 on 6174delT frameshift mutation, one had the splice site mutation IVS 16-2A > G, and one had the spli

190 Here we report a splice-site mutation (IVS14+1, G-->A) that is homozygous

191 utations: a nonsense mutation (R19X) and two splice-site mutations (IVS2+1G-->A and IVS3+1G-->T).

192 A missense (G920A resulting in G229D) and a splice site mutation (IVS5+5G-->A) occurred together in

193 Most splice-site mutations lead to a limited array of product

194 ere compound heterozygous for frameshift and splice site mutations leading to reduced, but not absent

195 The splice-site mutations leading to the deletions of exon 3

196 The splice site mutations led to use of cryptic splice donor

197 This acceptor splice-site mutation led to the formation of aberrant tr

198 The splice-site mutations led to exon skipping or utilizatio

199 In both cases, splice-site mutations led to the use of cryptic splice s

200 al pattern despite the presence of the donor splice site mutation, likely due to the action of a puta

201 in, frame shift, initiation codon (INIT) and splice site mutations (n = 930, OR = 1.3, P = 1.5xE-5).

202 Patients with exon 15 splice-site mutations (n = 13) developed clinical manife

203 on was unexpectedly absent, because of novel splice site mutations near exon 7 leading to another sto

204 More unusual mutations included heterozygous splice site mutations, nonsense mutations, and a 1-bp in

205 In 4 of 9 splice site mutations, normally spliced and mutated mRNA

206 ss of the intracellular domain (R11X), and a splice site mutation (nt 309+2t-->a).

207 e minigene assay to confirm pathogenicity of splice site mutations of CLC-1 chloride channels and a n

208 ant genomic deletions, de novo deletions and splice site mutations of PLCG2 can also cause PLAID-CU.

209 Intronic splice site mutations of tumor suppressor genes often ca

210 transcript, which does not contain cryptic 5'splice sites, mutation of the first nucleotide of the do

211 The effect of the splice site mutation on the PRPH2 transcript was analyze

212 or a frameshift mutation, the effects of the splice-site mutation on splicing of COL17A1 transcripts

213 l (n = 17, 35%), p.Met41Leu (n = 4, 8%), and splice site mutations or deletions (n = 3, 6%).

214 e product as a result of nonsense mutations, splice site mutation, or out-of-frame insertions or dele

215 esting that, in addition to coding-region or splice-site mutations, overdosage of the gene can cause

216 about 43 kb.The previously reported 5' donor splice site mutation present in pediatric thymine-uracil

217 ed that the patient was heterozygous for the splice site mutation previously found in one of her rela

218 otype, we detected homozygous frameshift and splice-site mutations, respectively, in the X-prolyl ami

219 Insertions, deletions, and splice-site mutations resulted in classic WAS and absent

220 RNA analysis showed that both splice-site mutations resulted in the generation of aber

221 Four of the 11 patients were found to have splice-site mutations resulting in aberrant splicing, an

222 ipping in PTEN but also found that different splice-site mutations resulting in the deletion of diffe

223 In the presence of splice site mutations, Rev is able to act independently

224 t cDNA transcripts from the patients with 3' splice-site mutations reveal complex patterns of exon sk

225 nducted massively parallel exon deletion and splice-site mutation screens in human cell lines to iden

226 utations located mostly in exons 1 to 4, and splice-site mutations (seven) and deletions and insertio

227 tient with non-Hodgkin's lymphoma with a p53 splice site mutation showed a minor response.

228 ependent PDX models acquired secondary BRCA1 splice site mutations (SSMs) that drive exon skipping, c

229 By using a binary splice site mutation suppressor assay we demonstrate tha

230 rsensitivity in HAP1 cells are a result of a splice-site mutation (TDP1 c.660-1G > A) that causes exo

231 ength transcripts and a paternally-inherited splice site mutation that causes activation of a cryptic

232 ences of KL comes from the Sl17H mutation, a splice site mutation that replaces the cytoplasmic domai

233 llele of the sodium channel Scn8a contains a splice site mutation that results in sodium channel defi

234 The Clk(ar) phenotype is caused by a splice site mutation that severely disrupts splicing and

235 We identified 2 different heterozygous splice site mutations that affect the same splice site i

236 onsense mutations, frameshift deletions, and splice site mutations that generate aberrant transcripts

237 proteins to the NP1 open reading frame, and splice site mutations that prevented their expression in

238 ee of these are homozygous for a 1303+1G-->A splice-site mutation that causes skipping of exon 5, del

239 , Reln(CTRdel), carries a chemically induced splice-site mutation that truncates the C-terminal regio

240 uding a total of 21 nonsense, frameshift and splice-site mutations that cause premature termination o

241 This strategy includes splice-site mutations that represent a significant fract

242 In all patients with the +16 splice site mutation, the behavioural profile was charac

243 In contrast to splice-site mutations, the role of auxiliary cis-acting

244 fied unique mutations in all, including four splice-site mutations, three deletions, one insertion, f

245 trons to be expanded and by the inability of splice site mutations to cause exon skipping-properties

246 three nonsense, four missense and two donor splice site mutations, together with one intragenic dele

247 tations at the GSS locus on six alleles: one splice site mutation, two deletions and four missense mu

248 A putative splice site mutation was also detected in intron 3 from

249 The splice site mutation was demonstrated to cause a pre-mRN

250 A homozygous splice site mutation was identified by Sanger sequencing

251 A homozygous splice-site mutation was detected in RSPH1 in both sibli

252 tively), the risk in intron 1 inversions and splice-site mutations was equal (pooled OR = 0.9; 95% CI

253 mprise one nonsense, three missense, and two splice-site mutations; we demonstrate in zebrafish that,

254 Frameshifting and splice site mutations were common, found in 4 of 5 patie

255 No nonsense or essential splice site mutations were found in 2,479 controls, whil

256 Eleven novel missense, nonsense, and splice site mutations were identified within EYS in 10 u

257 affected by PKD, a frameshift mutation and a splice-site mutation were detected.

258 Two splice-site mutations were identified, including homozyg

259 Exons that were skipped as a result of splice-site mutations were smaller, had lower SF2/ASF mo

260 dent DSTYK mutations, including nonsense and splice-site mutations, were detected in 7 of 311 unrelat

261 nd biochemical outcomes of the five distinct splice-site mutations, which led to the skipping of exon

262 provide evidence of an association of an XPC splice site mutation with autistic neurologic features a

263 are allelic with kaktus-2 plants harboring a splice-site mutation within the UPL3-transcribed region.