ライフサイエンスコーパス: splicing variant

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

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

3 captures the relationships between different splicing variants.

4 natural and convenient representation of all splicing variants.

5 junctions, gene boundaries, and alternative splicing variants.

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

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

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

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

10 ncluding expression of AR gene mutations and splicing variants.

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

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

13 stingly, both INK4 genes express alternative splicing variants.

14 technology allows quantitation of individual splicing variants.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

32 Tau splicing variants are multiply O-GlcNAcylated at similar

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

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

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

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

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

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

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

40 5C exists at 14q32.2 and gives rise to three splicing variants, B56gamma1, -gamma2, and -gamma3, wher

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

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

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

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

45 The splicing variant containing the stop codon is detected o

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

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

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

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

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

51 ranscription initiation, polyadenylation and splicing variant data.

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

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

54 These splicing variants encoded for proteins that lacked the d

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

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

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

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

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

60 Recombinant protein from both splicing variants has PIMT activity.

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

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

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

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

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

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

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

68 , 37 base pairs upstream from an alternative splicing variant in NDUFAF6 chr8:96046951 A > G; rs74395

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

87 Recently, we found its splicing variant, NUB1L.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

104 -2 (pCP-2, mTld) is derived from the longest splicing variant of the gene encoding bone morphogenetic

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

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

107 An alternative splicing variant of the human glucocorticoid receptor GR

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

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

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

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

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

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

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

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

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

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

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

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

120 Splicing variants of type 4 phosphodiesterases (PDE4) ar

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

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

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

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

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

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

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

128 These aberrant splicing variants significantly altered the structure of

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

130 Splicing variant STAT3beta uses an alternative acceptor

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

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

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

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

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

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

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

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

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

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

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

142 A third splicing variant was expressed predominantly in rat hear

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

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

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

146 Three IMPDH splicing variants were found and splicing preference was

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

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

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

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

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

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

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

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