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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

30 (10%), in-frame deletions, and nonsense and splice-site mutations (5% to 7% each).

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

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

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

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

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

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

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

38 Two splice site mutations affected the consensus sequence at

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

65 6%): 10 nonsense mutations, 2 frameshifts, 7 splice-site mutations, and 1 large in-frame deletion.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

90 .105C>A+106_124dup, c.189delC) and one was a splice-site mutation (c.1102-2A>G).

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

190 Intronic splice site mutations of tumor suppressor genes often ca

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

227 A homozygous splice site mutation was identified by Sanger sequencing

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

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

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

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

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

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

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

235 Two splice-site mutations were identified, including homozyg

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

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

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

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

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