ライフサイエンスコーパス: splicing variant

1 they dot not express DM-20 mRNA, a PLP mRNA splicing variant.

2 in-frame deletions, one frameshift, and one splicing variant.

3 ch express much less PTGS2, FP, and its alt4 splicing variant.

4 technology allows quantitation of individual splicing variants.

5 captures the relationships between different splicing variants.

6 natural and convenient representation of all splicing variants.

7 junctions, gene boundaries, and alternative splicing variants.

8 , Grb10 and Grb14, each of which has several splicing variants.

9 ings included two new family members and new splicing variants.

10 e not well characterized, nor is the role of splicing variants.

11 igene assays were used to validate candidate splicing variants.

12 tion may confound clinical interpretation of splicing variants.

13 rowth of PCa expressing therapy resistant AR splicing variants.

14 hallenges for the clinical interpretation of splicing variants.

15 es for detecting and interpreting pathogenic splicing variants.

16 of mRNA encoding different IGF-1 alternative splicing variants.

17 ncluding expression of AR gene mutations and splicing variants.

18 nique domains of MUC16; and the existence of splicing variants.

19 ssing SCN5A also showed identical C-terminal splicing variants.

20 stingly, both INK4 genes express alternative splicing variants.

21 A total of 93 of 545 P/LP splicing variants (17.1%) were dependent on RNA evidence

22 iched gene RNA-binding protein with multiple splicing (variants) 2 [RBPMS2)] by generating and charac

23 exonic mutation c.3538G>A causes 3 in-frame splicing variants (23del, 26del, and 23/26del) which can

24 and activation, transient expression of CD44 splicing variant 6 (CD44v6) plays a significant role.

25 involve inducing the androgen receptor (AR) splicing variant 7 (ARv7).

26 otype and coexistence of more than one TNNT2 splicing variant (90.5% GG v 41.7% GA/AA; P = .005).

27 Here we identified two intergenic splicing variants, a zinc finger-containing coactivator

28 top-gain variant, and three carried the same splicing variant affecting a consensus donor site.

29 missense variant in a melanoma sample and a splicing variant and a nonsense mutation in pediatric gl

30 a property that is modified by an endogenous splicing variant and is modulated by a nuclear export in

31 reserves the relationships between different splicing variants and allows us to investigate systemati

32 nal nitric-oxide synthase (nNOS) has various splicing variants and different subcellular localization

33 RNA-Seq can also be applied to disentangle splicing variants and discover novel transcripts, thus c

34 al testing laboratory, after excluding known splicing variants and functionally intermediate variants

35 ophic factor (BDNF) has multiple alternative splicing variants and plays diverse biological functions

36 odifications, amino acid variants, alternate splicing variants and protein cleavage patterns.

37 sequencing-based RNA-seq is able to identify splicing variants and single nucleotide variants in one

38 To better understand splicing variants and their contribution to hereditary d

39 role of glucocorticoid receptor (GCR)beta (a splicing variant, and dominant negative inhibitor of, th

40 ir size, UTR lengths, 3'-end cleavage sites, splicing variants, and coding potential.

41 ncoding RNA, chromatin features, alternative splicing variants, and signaling proteins change their a

42 Using MaPSy splicing variants, predicted splicing variants, and splicing quantitative trait loci,

43 ceptor (AR) messenger RNA (mRNA) alternative splicing variants (AR-Vs) are implicated in castration-r

44 temporally and spatially regulated, and many splicing variants are also described.

45 This new gene and products including two splicing variants are designated IRF-7A, IRF-7B, and IRF

46 s the product of a single gene, but multiple splicing variants are expressed that show tissue specifi

47 In the Clinvar dataset, splicing variants are highly related to disease pathogen

48 ese observations provide evidence that BRCA1 splicing variants are involved in BRCA1 functions in mod

49 Tau splicing variants are multiply O-GlcNAcylated at similar

50 Although most splicing variants are probably non-functional, alternati

51 ariants and show for the first time that AID splicing variants are singly expressed in individual nor

52 These data demonstrate that three PDE4D splicing variants are targeted to discrete subcellular c

53 The p53-like genes, p73 and the several KET splicing variants, are recently described genes of uncer

54 Androgen receptor splicing variants (ARVs) that lack the ligand-binding do

55 ssor, suggesting the potential importance of splicing variants as modulators of thyroid hormone and r

56 t analysis of known or suspected alternative splicing variants (ASVs) using PCR, primer extension and

57 terized a unique tissue-specific alternative splicing variant at the adaptively introgressed innate i

58 biallelic precursor messenger RNA (pre-mRNA) splicing variants at the 5' splice sites of exon 5 ( E5)

59 r each gene, we describe several alternative splicing variants; at least two transcripts per gene are

60 The subcellular fate of splicing variants AtUPS5L (long) and AtUPS5S (short) was

61 5C exists at 14q32.2 and gives rise to three splicing variants, B56gamma1, -gamma2, and -gamma3, wher

62 ting of the son detected a pathogenic CDKN2A splicing variant (c.151-1G>C) and was negative for NF1 g

63 ified compound heterozygosity for a maternal splicing variant (chr5:60195556, NM_000082:c.618-2A > G)

64 CD36 and LIMPII analog 1, CLA-1, and its splicing variant, CLA-2 (SR-BI and SR-BII in rodents), a

65 GS) may improve the detection of fusions and splicing variants compared with DNA-NGS alone.

66 In the Genome Aggregation Database (gnomAD), splicing variants comprised 9.4% of variants in protein-

67 d variants were enriched for moderate-effect splicing variants, consistent with positive selection fo

68 The results also show that a natural splicing variant containing a 10-amino-acid insert in th

69 The fibronectin-splicing variant containing extra domain A (Fn-EDA) is p

70 The splicing variant containing the stop codon is detected o

71 ous studies isolated and characterized eight splicing variants containing exon 11 as the first coding

72 pended on glycolysis, which controlled Foxp3 splicing variants containing exon 2 (Foxp3-E2) through t

73 expression of forkhead-boxP3 (FoxP3) and its splicing variants containing the exon 2 (FoxP3-E2) that

74 position-independent and exists in all MEF2 splicing variant contexts.

75 d Bisbee to assess evidence for a pathogenic splicing variant contributing to a rare disease and to i

76 ermore, LMP-1 and IRF-7A but not other IRF-7 splicing variants could activate endogenous Tap-2.

77 rine amelogenins, suggesting that additional splicing variants could contain the exon 4 coding region

78 of the cryptochrome circadian clock 1 (CRY1) splicing variant, CRY1 11 c.1657 + 3A > C, and their con

79 ranscription initiation, polyadenylation and splicing variant data.

80 blood samples from two patients carrying the splicing variants, demonstrating their effect.

81 R, single nucleotide polymorphism detection, splicing variant detection, methylation detection, micro

82 mapping to each gene, and mutations and mRNA splicing variants determined from the sequence reads.

83 he production of a flg22-induced alternative splicing variant, diacylglycerol kinase 5alpha (DGK5alph

84 ng depth affects gene and isoform detection, splicing variant discovery, and clinical interpretation

85 racting partners represent contribution from splicing variants, emphasizing the importance of isoform

86 These splicing variants encoded for proteins that lacked the d

87 Furthermore, these two functional splicing variants exhibited a striking difference in sen

88 at, on average, individuals with the studied splicing variant experience pronounced delays in sleep p

89 A better approach would be to represent all splicing variants for a given gene in a way that capture

90 tag data sets have revealed large numbers of splicing variants for human genes, but it remains challe

91 fication for c-Met and constitutively active splicing variants for RON.

92 = 1), frameshifts (n = 1) and one recurrent splicing variant found in four cases.

93 We further identified potentially pathogenic splicing variants found only in Neanderthals and Denisov

94 ghly explored the role of protein-coding and splicing variants from key genes associated with AD/ADRD

95 VaSP can quantify splicing variants from short-read RNA-seq datasets and d

96 Recombinant protein from both splicing variants has PIMT activity.

97 reading frame usage, and translation of RNA splicing variants) has been reported, and autoreactive T

98 Our data suggest that FN splicing variants have a differential role in the effect

99 Four different splicing variants have been identified, designated as HD

100 via prostaglandin F2alphaFP receptor/FP alt4 splicing variant heterodimers.

101 mobility group (HMG) protein, HMG-I, and its splicing variant, HMG-Y.

102 In addition, we have characterized a hMSH4 splicing variant (hMSH4sv) encoding a truncated form of

103 A truncated splicing variant, iFer, was also cloned.

104 seful for interpretation of seven coding and splicing variants implicated in immunodeficiency found i

105 graph rather than assembling them into each splicing variant in a case-by-case fashion.

106 anti-androgen therapy-resistant marker ARV7 splicing variant in circulating tumour cells from patien

107 notype due to homozygosity for a deleterious splicing variant in CYS1.

108 , 37 base pairs upstream from an alternative splicing variant in NDUFAF6 chr8:96046951 A > G; rs74395

109 alopathy and a shared deleterious homozygous splicing variant in SLC38A3.

110 unique Neanderthal introgressed alternative splicing variant in the gene HSPG2 that encodes perlecan

111 onfirm interaction of Dot1a (the major Dot1l splicing variant in the mouse kidney) with histone deace

112 ocardium from children with TOF, we observed splicing variants in 51% of genes that are critical for

113 ing for the verification of the existence of splicing variants in a variety of samples.

114 we used a minigene assay to identify exonic splicing variants in ADA exon 9.

115 This indicated that there are short splicing variants in addition to GABAB receptor subunit

116 however, little is known about the aberrant splicing variants in affected patients and how these var

117 We also profiled rare intronic splicing variants in ALS patients to identify known or n

118 Analysis of TNNT2 splicing variants in healthy human hearts suggested an a

119 We have identified mRNA splicing variants in human tissues by ribonuclease prote

120 In order to specifically capture splicing variants in plants for genome-wide association

121 We identified pathologic AIF3/AIF3-like splicing variants in postmortem brain tissues of pediatr

122 cores to guide the prediction of deleterious splicing variants in protein-coding genes.

123 ng data from 1370 ALS patients revealed rare splicing variants in reported ALS genes (such as PTPRN2

124 , measuring the epigenome and characterizing splicing variants in the transcriptome.

125 They were found to have bi-allelic splicing variants in TUBGCP6.

126 Together our data indicate that splicing variants in WDR35, and possibly in other IFT-A

127 In this report we describe pathogenic splicing variants in WDR35, encoding retrograde intrafla

128 relin, receptors and the recently discovered splicing variant In1-ghrelin, in human normal pituitarie

129 This method identified thousands of back-splicing variants, including circRNA common to lytic and

130 to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human dis

131 Whereas the functional significance of these splicing variants is often not known, it is known that n

132 Transcript levels for pan-ErbB4, four ErbB4 splicing variants (JM-a, JM-b, CYT-1, CYT-2), parvalbumi

133 sought to investigate the new, very frequent splicing variant KIV-2 4733G>A on Lp(a) and CAD.

134 Finally, we identified BRAF(V600E) splicing variants lacking the RAS-binding domain in the

135 we identify biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-s

136 ed lens epithelium-derived growth factor p75 splicing variant (LEDGF), which is a reader protein of H

137 Most splicing variants lie in non-coding regions of the trans

138 nts and controls to identify common intronic splicing variants linked to ALS risk or disease phenotyp

139 es the generation of the proapoptotic, short splicing variant (MCL1-S) and diminishes the antiapoptot

140 ouple to both Galpha14 and Galpha16, but its splicing variant, MCP-1Rb, cannot.

141 amily were enriched with rare regulatory and splicing variants (minor allele frequency < 0.01).

142 However, a LDAH alternative-splicing variant missing 90 amino acids at C-terminus do

143 Genome-wide analyses of common intronic splicing variants nominated one variant linked to ALS pr

144 Recently, we found its splicing variant, NUB1L.

145 ion is regulated in neurons, we identified a splicing variant of apoE mRNA with intron-3 retention (a

146 of fusion proteins in plants, we show that a splicing variant of AtGLR3.5 targets the inner mitochond

147 We identified a splicing variant of Bok mRNA with a deletion of 43 resid

148 AM (CRMP5)-associated GTPase (CRAG), a short splicing variant of centaurin-gamma3/AGAP3, facilitated

149 a-chemokine, CKbeta8, whereas the other is a splicing variant of CKbeta8, therefore named CKbeta8-1.

150 Interestingly, an enzymatically inactive splicing variant of DYRK1B (p65) resisted degradation.

151 mined for the presence or absence of a 42-bp splicing variant of ERCC1 gene, and for a possible funct

152 Likewise, HMGA1b, which is a splicing variant of HMGA1a, was acetylated on Lys14 and

153 lain the oncogenic effects of an alternative splicing variant of MDMX that does not contain the WWW e

154 s, in part, determined by the NH(2) terminus-splicing variant of milton.

155 In contrast, MIM-CT, a short splicing variant of MIM, binds poorly to cortactin in vi

156 vels of total nNOS and nNOSu (i.e. the major splicing variant of nNOS in skeletal muscle) decreased.

157 The expression of the nNOSbeta gene, another splicing variant of nNOS, in EDL was unchanged by cast i

158 In contrast, PKC alpha and PKC betaI (a splicing variant of PKC betaII) expression was slightly

159 biochemical modifications of SALL4B, a major splicing variant of SALL4, and elucidated their biologic

160 ernative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a redu

161 up previously identified an alternative mRNA splicing variant of SR-BI, named SR-BII, with an entirel

162 Here, we report the characterization of a splicing variant of TAB1, TAB1beta.

163 polymerase chain reaction revealed that one splicing variant of the a1 isoform (a1-I) was expressed

164 -2 (pCP-2, mTld) is derived from the longest splicing variant of the gene encoding bone morphogenetic

165 alternative splicing is to investigate every splicing variant of the gene in a case-by-case fashion.

166 entification and characterization of a novel splicing variant of the human beta1 subunit, termed beta

167 An alternative splicing variant of the human glucocorticoid receptor GR

168 e p73 putative tumor suppressor, and to be a splicing variant of the KET gene.

169 sly, we identified Mcl-1S (short) as a short splicing variant of the Mcl-1 gene with proapoptotic act

170 We identified a short splicing variant of the MCL-1 mRNA in the human placenta

171 d downregulation of a short alternative mRNA splicing variant of the methyl-CpG binding domain 2 gene

172 Here, we discovered a novel alternative splicing variant of the MST2 encoding gene, STK3, in mal

173 rat adipocyte cDNA library, we identified a splicing variant of the SH2 domain-containing protein SH

174 Here, we characterized two novel alternative splicing variants of cBDNF, cBDNF1 and cBDNF2, via combi

175 These data indicate that the alternative splicing variants of CsJAZ1 coordinately regulate flavan

176 We found many splicing variants of GPCRs that may have a relevance to

177 The function of other splicing variants of OC mRNA needs to be further investi

178 Alternative splicing variants of PLC can interfere with complex sign

179 revealed that injury induced multiple novel splicing variants of relA, relB, and NF-kappaB2 in the l

180 Splicing variants of sarcomeric proteins are crucial at

181 Two splicing variants of the receptor gene were functionally

182 al for MV binding and infection and that the splicing variants of the STP domain not only affect MV b

183 We have identified temperature-sensitive splicing variants of the yeast Saccharomyces cerevisiae

184 In addition, novel alternative splicing variants of three neuropeptide genes (allatosta

185 Splicing variants of type 4 phosphodiesterases (PDE4) ar

186 Importantly, splicing variant one (GeneBank Accession No: AF196975) c

187 d from infected rat lung contained primarily splicing variant one (introns two and four deleted), but

188 the p85alpha regulatory subunit yields three splicing variants, p85alpha, AS53/p55alpha, and p50alpha

189 c catalog of both known and novel coding and splicing variants potentially linked to PD etiology in a

190 ave identified 3 human C-terminal SCN5A mRNA splicing variants predicted to result in truncated, nonf

191 Using MaPSy splicing variants, predicted splicing variants, and spli

192 variants in DDX39B and one with an inherited splicing variant, presenting with variable developmental

193 ely 33 kDa, comprising all exon 5 and exon 9 splicing variants previously characterized for WT1.

194 When expressed in Xenopus oocytes, the two splicing variants produced robust sodium currents, but w

195 scovered that its longer (L) and shorter (S) splicing variants regulate erythroid differentiation in

196 In the clinical cohort, splicing variants represented 13% of all variants classi

197 gene organization and a large number of PDE splicing variants serve to fine-tune cyclic nucleotide s

198 These aberrant splicing variants significantly altered the structure of

199 duction of the expression of singar1 and its splicing variant singar2 by RNA interference led to an i

200 o determine the pathogenicity of BRCA2 leaky splicing variants, some of which may not increase cancer

201 Splicing variant STAT3beta uses an alternative acceptor

202 nd function studies of wild-type and natural splicing variants suggest the presence of 3-4 amino term

203 Seven haplotypes (hap I-VII) and four mRNA splicing variants (SV) of A3H have been identified.

204 urately distinguishes deleterious and benign splicing variants than state-of-the-art splicing predict

205 dentified using cDNA sequencing a unique mis-splicing variant that caused a frameshift mutation.

206 methylation and the human-specific AS3MTd2d3 splicing variant that has been linked to schizophrenia.

207 These variants include a recurrent splicing variant that was initially overlooked due to it

208 all multi-exon, protein-coding genes produce splicing variants that are targeted by NMD.

209 imilarly to INK4A-ARF, harbors two different splicing variants that can be involved in the regulation

210 d 2 C-terminal domains of GluN1 results in 8 splicing variants that exhibit distinct temporal and spa

211 Finally, we found splicing variants that may contribute to variation among

212 ants at essential splice sites or had common splicing variants that were most likely compatible with

213 om spinner flask culture contained primarily splicing variant three (all four introns deleted).

214 Overall, we describe the contribution of splicing variants to hereditary disease, the potential u

215 of FN fragments and embryonic or tumorigenic splicing variants to stimulate fibroblast migration into

216 For the human genome, ASTD identifies splicing variants, transcription initiation variants and

217 ssed in brain, and EIC was only expressed as splicing variants unlikely to encode a functional serpin

218 ene at the same locus, thus creating a novel splicing variant using the upstream ORF as its first exo

219 Here, we compared two splicing variants (V1, V2) of murine UHRF1 (mUHRF1) with

220 erase 2beta (MAT2beta) encodes for two major splicing variants, V1 and V2, which are differentially e

221 s four other variants due to alternative RNA splicing (variants v2, v3, v4, and v5), whose functions

222 A third splicing variant was expressed predominantly in rat hear

223 the mouse brain was examined, the same short splicing variant was observed in the olfactory area and

224 nt (IVS24-7delGTTT) in all 19 patients, this splicing variant was previously considered casual for CI

225 or human retinal degeneration, but biallelic splicing variants were associated with a distinct ciliop

226 cating pervasive splicing; yet most of these splicing variants were cryptic and increased in nuclear

227 Splicing variants were depleted in genes associated with

228 Three IMPDH splicing variants were found and splicing preference was

229 For all the genes, alternative mRNA splicing variants were frequent among the clones obtaine

230 Most splicing variants were outside essential splice sites an

231 ransfected Jurkat T cells expressing 2 AIF-1 splicing variants were prepared, and their migration tow

232 somatic point mutations, a frameshift and a splicing variant, were found in the panel of bladder tum

233 rom ordinary gel electrophoretic analysis of splicing variants where heteroduplexes formed from diffe

234 of normal liver revealed a minor alternative splicing variant which lacks a 103 nt polynucleotide con

235 We uncovered multiple splicing variants while characterizing its 5'-flanking r

236 Phenotypic association of a dominant splicing variant with late-onset mild maculopathy was es

237 Our study identified a novel STK3 splicing variant with loss of function and the potential

238 ith different gating properties, whereas the splicing variant with the stop codon did not produce any

239 the Clinvar dataset to identify the link of splicing variants with disease pathogenicity.

240 10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDD

241 ) and the long form (MYLK-210) of MYLK and a splicing variant within MYLK-210.