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1 45B variant that acts as a complex hypomorph splice variant.
2 ulin and of its muscle-specific metavinculin splice variant.
3 ncreased signaling and characterizes a GPR56 splice variant.
4 Factor H levels, especially carriers of the splice variant.
5 ce the peptide substrate preferences of each splice variant.
6 repetitive sequences within transcripts and splice variants.
7 alternative splicing to generate an array of splice variants.
8 rostate cancer with constitutively active AR-splice variants.
9 nt systems via expression of different ClC-3 splice variants.
10 eptor gene OPRM1 creates multiple C-terminal splice variants.
11 tially due to the increased expression of AR splice variants.
12 macological targeting of individual receptor splice variants.
13 a context-dependent algorithm for selecting splice variants.
14 different genes, alternative promoters, and splice variants.
15 vel expression of the transporters and their splice variants.
16 WERING LOCUS M-beta (FLM-beta) and FLM-delta splice variants.
17 pend on the identities of Ca(v) subunits and splice variants.
18 anding the complex pool of endogenous CaMKII splice variants.
19 cterize the expression and function of these splice variants.
20 ull-length AR (twofold, P < 0.05) and the AR splice variants 1 (threefold, P < 0.05) and 7 (threefold
21 rcise-induced expression of total BDNF, BDNF splice variants 1, 2, 4, 6 and fibronectin type III doma
22 exonic mutation c.3538G>A causes 3 in-frame splicing variants (23del, 26del, and 23/26del) which can
25 pression of the splice variant of RAGE (RAGE splice variant 4), which is resistant to ectodomain shed
28 transcripts including the androgen-receptor splice variant 7 in a cohort of prostate cancer patients
30 the constitutively active androgen receptor splice variant-7 (AR-V7) associates with reduced respons
32 usly that the detection of androgen receptor splice variant-7 (AR-V7) mRNA in circulating tumor cells
33 otype and coexistence of more than one TNNT2 splicing variant (90.5% GG v 41.7% GA/AA; P = .005).
35 ree methods to rapidly analyze and visualize splice variants across tens of thousands of bulk and sin
37 xpresses a given set of protein isoforms and splice variants adapted to the demands on neurotransmitt
38 gene expression analysis for RBM20-dependent splice variants affected sarcomeric (TTN and LDB3) and c
41 (LHY) and CIRCADIAN CLOCK ASSOCIATED1 (CCA1) splice variants, among other alternatively spliced trans
43 reduced expression of NCR3 immunostimulatory splice variants and an increased expression of the inhib
44 y transcript has three potential alternative splice variants and cell-type specific expression result
45 we describe examples of these CKD-associated splice variants and ideas on how to manipulate them for
47 the function of zebrafish tcf7l2alternative splice variants and show that only variants that include
48 nkage with rs6834314 (r(2) = 0.94) generates splice variants and shows a similar pattern of associati
49 wever, the clinical importance of individual splice variants and the mechanisms by which they can per
50 ology of ligand binding to CXCR3 alternative splice variants and their downstream signaling pathways
52 s with novel transcription initiation sites, spliced variants and alternative polyadenylation sites.
54 volutionary changes in RNA binding proteins, splice variants, and associated cis elements have furthe
55 d viral constructs to express human CAR, its splice variants, and mutant CAR forms in hepatocytes fro
56 identified including indels, stop-gain/loss, splice variants, and recurrent gene variants indicative
59 ncoding RNA, chromatin features, alternative splicing variants, and signaling proteins change their a
62 course of development, including in abnormal splice variants (AR-SV)-driven advanced stage castration
64 full-length androgen receptor (AR-FL) and AR splice variants (AR-Vs) drives the progression of castra
67 ing to upregulation of the androgen receptor splice variant AR3 which has been shown to play a role i
68 static to sic-3, indicating the LHY and CCA1 splice variants are needed for sic-3 circadian clock phe
70 ctivated states, and the differences between splice variants are occluded by antiepileptic drugs that
73 findings highlight the importance of an MDM2 splice variant as a critical modifier of both p53-depend
74 ric BRAF mutants, including BRAF fusions and splice variants as well as BRAF V600 monomers, but spare
75 n transcript isoforms, including length- and splice variants, as well as between overlapping polycist
76 (MGL(short)) and the long MGL 6B (MGL(long)) splice variants, as well as of a histidine-to-threonine
78 nts, grouped by low and high expression of a splice variant associated with patient survival and invo
79 atically address the functions of individual splice variants associated with normal and disease biolo
80 tational approach to systematically identify splice variants associated with patient survival that ca
81 e differential expression of two alternative splice variants (ASV), which differ in length and in the
82 microheterogeneity with numerous alternative splice variants (ASVs) and post-translational modificati
87 f the neurexin-1beta and neurexin-3beta SS4+ splice variants, but not of their SS4- splice variants,
90 t, whereas overexpression of the calcineurin splice variant calcineurin Abeta1 results in GSK3beta in
91 te RNA processing of caspase-9 generates the splice variants caspase 9a (C9a) and caspase 9b (C9b).
92 derived from mice expressing different CD44 splice variants (Cd44(+/+), Cd44(-/-), Cd44(s/s), or Cd4
93 ified compound heterozygosity for a maternal splicing variant (chr5:60195556, NM_000082:c.618-2A > G)
94 genome, assemble transcripts including novel splice variants, compute the abundance of these transcri
96 expression of forkhead-boxP3 (FoxP3) and its splicing variants containing the exon 2 (FoxP3-E2) that
98 sults demonstrate that the production of DCC splice variants controlled by NOVA has a crucial functio
102 nclude AR amplification and expression of AR splice variants, demonstrating that AR remains a key the
105 oarray or RNAseq) was found to influence the splice variants detected and subsequently the direction
108 expression of a specific active zone protein splice variant (e.g., Piccolino) contributes to structur
109 splasin A (EDA) is produced as 2 full-length splice variants, EDA1 and EDA2, that bind to EDA recepto
110 To study this phenomenon, we identified two splice variants encoded by the HRP3 gene: the canonical
114 ained with the reduced binding of CFH or its splice variant factor H-like protein 1 (FHL-1) to self-l
115 sma proteins Factor H (FH) and its alternate splice variant FH-like protein 1 (FHL-1) are the major r
116 teraction molecule 1 (STIM1) with the PMCA4b splice variant further enhanced NFAT activity; however,
117 ntigens derived from mutational frameshifts, splice variants, gene fusions, endogenous retroelements
119 or drug target, has a highly conserved minor splice variant, GRgamma, which differs by a single argin
120 the splicing event is highly conserved, one splice variant has been selectively removed from Nav1.1
122 reading frame usage, and translation of RNA splicing variants) has been reported, and autoreactive T
124 ile mutations in MST1R are rare, alternative splice variants have been previously reported in epithel
127 eptor agonists at the two most abundant hH3R splice variants (hH3R445 and hH3R365) across seven signa
128 experiment, we selectively knocked down EGFR splice variant I, while in the other we knocked down all
129 electively repressed the translation of BDNF splice variant IIc mRNA in an eIF4A-dependent manner.
131 seful for interpretation of seven coding and splicing variants implicated in immunodeficiency found i
132 ), and replicated previous associations of a splice variant in APOC3 (rs138326449) with triglycerides
133 repeats (which determine apo(a) size), and a splice variant in LPA associated with small apo(a) but l
135 In contrast, introduction of the exon 9* splice variant in the alpha(1C) I-II loop, which is incr
136 d 52 inherited, rare, large-effect coding or splice variants in 7 genes that were associated with gre
138 ole gene and gene fusion analyses to include splice variants in basic and translational neuro-oncolog
140 Distinct expression pattern of periostin splice variants in chondrocytes and ligament progenitor
141 Using PCR approaches we have identified two splice variants in human tissues, which we have named MT
144 al specificities of two highly similar CDC42 splice variants in regulating distinct stages of neuroge
145 e de novo missense variant and three de novo splice variants in RPL13, which encodes ribosomal protei
147 modifications act on the p53 protein and its splice variants in stem and progenitor cells to silence
148 ings reveal an important role for these NRP1 splice variants in the regulation of endocytic trafficki
151 , 37 base pairs upstream from an alternative splicing variant in NDUFAF6 chr8:96046951 A > G; rs74395
152 onfirm interaction of Dot1a (the major Dot1l splicing variant in the mouse kidney) with histone deace
155 We previously identified TRAILshort, a TRAIL splice variant, in HIV-infected patients and characteriz
156 c glycine receptor channels, including their splice variants, in the same cellular expression system
157 sed expression of an exon 10-skipped CYP24A1 splice variant; in a minigene model the latter was atten
161 rovide converging evidence indicating that a splice variant isoform of the Acbd7 mRNA is expressed an
162 arkedly reduce the activity of wild-type and splice variant isoforms of AR at submicromolar doses.
163 Transcript levels for pan-ErbB4, four ErbB4 splicing variants (JM-a, JM-b, CYT-1, CYT-2), parvalbumi
168 Recent reports highlight the emergence of AR splice variants lacking the LBD that can arise during di
169 ed lens epithelium-derived growth factor p75 splicing variant (LEDGF), which is a reader protein of H
170 e found that FKBP65 forms complexes with LH2 splice variants LH2A and LH2B but not with LH1 and LH3.
171 e kinase (PK) over its constitutively active splice variant M1 isoform is considered critical for aer
173 estigated the relationship between macroH2A1 splice variants, macroH2A1.1 and macroH2A1.2, and liver
178 we show that a unique domain within the MLCK splice variant MLCK1 directs perijunctional actomyosin r
179 n the alternative splicing of exon 1, type I splice variants (MOCS1A) either localize to the mitochon
180 ially deleterious (nonsynonymous, stop-gain, splice) variants (n = 2,398 for EA; n = 1,693 for AA) an
181 competes with both HGF/SF and its truncated splice variant NK1 for MET binding, despite the location
182 s to quantify any human protein and numerous spliced variants, non-synonymous mutations, and post-tra
185 ly spliced 25-amino acid exon 9* mimicking a splice variant of alpha(1C) upregulated in the hypertrop
186 We further characterized an alternative splice variant of ATAD2B that results in a loss of funct
189 ncreased the localization of BKDEC (i.e. the splice variant of BK(Ca) that specifically targets mitoc
190 Vertebrates have evolved a neuron-specific splice variant of C-Src, N1-Src, which differs from C-Sr
191 w that the resurgence of a specific neonatal splice variant of CaV1.2 channels in adult heart under s
192 ing to increased expression of a mesenchymal splice variant of CD44 and a more invasive phenotype.
193 echanism featuring translation of a specific splice variant of CDKN1A that facilitates G1 arrest and
196 d haplotype likely reintroduced an ancestral splice variant of OAS1 encoding a more active protein, s
197 ce of Piccolino, the ribbon synapse-specific splice variant of Piccolo, for shaping the ribbon struct
198 that Piccolino, the synaptic ribbon specific splice variant of Piccolo, interacts with RIBEYE, the ma
199 -/-) mice, which lack the NH2-amino terminal splice variant of PTEN, were unable to eradicate Pseudom
201 cently, STIM2beta, an eight-residue-inserted splice variant of STIM2, was found to act as an inhibito
202 The presence of the neuronal-specific N1-Src splice variant of the C-Src tyrosine kinase is conserved
203 pe of splicing usually gives rise to a minor splice variant of the endogenous gene and in silico anal
204 e investigated the signaling regulation of a splice variant of the estrogen receptor, namely estrogen
206 results in the expression of female-specific splice variants of Bdtra and doublesex (Bddsx), and indu
208 Using expression of naturally occurring splice variants of CAPS2 into chromaffin cells from CAPS
209 resolve this paradox, demonstrating that two splice variants of CDC42, differing only in nine amino a
211 d confirmed the expression of two additional splice variants of human ZAP: ZAPXL (extralong) and ZAPM
212 k, we report the identification of two novel splice variants of Md1, which are expressed at similar l
214 resistance in C. finmarchicus, we identified splice variants of NaVs that were predicted to be toxin
215 ula densa expresses alpha-, beta-, and gamma-splice variants of neuronal nitric oxide synthase 1 (NOS
224 for the H3R; further, it is unknown whether splice variants of the same receptor engender the same o
225 rently arises from cell-specific alternative splice variants of the single pore-forming alpha subunit
226 taining the stress-regulated exon (STREX), a splice-variant of the alpha-subunit that displays altere
227 in-B (ankB) is a neurospecific alternatively spliced variant of ANK2, a high-confidence autism spectr
228 4-excluded form (MTA1dE4), the most abundant spliced variant of MTA1, in patients receiving curative
229 ously cloned and characterised alternatively spliced variants of ADAM15 that differ in their intracel
230 vels of total nNOS and nNOSu (i.e. the major splicing variant of nNOS in skeletal muscle) decreased.
231 The expression of the nNOSbeta gene, another splicing variant of nNOS, in EDL was unchanged by cast i
232 ernative splicing of SCN5A mRNA and that the splicing variant of SCN5A produced in DM presents a redu
233 d downregulation of a short alternative mRNA splicing variant of the methyl-CpG binding domain 2 gene
236 ZAPS and ZAPM and elucidates the effects of splice variants on the action of a broad-spectrum antivi
237 ing, the method found three cryptic intronic splice variants (one known and two experimentally verifi
240 s focus on one protein ignoring the multiple splice-variant or protein-isoforms, which might contribu
241 ween the large number of active and inactive splice variants, or gain-of-function and loss-of-functio
242 port cloning and expression of a novel P2RX7 splice variant, P2RX7L, that is, characterized by skippi
244 tor co-activator 1 alpha (PGC1alpha) and its splice variant PGC1alpha4 increase skeletal muscle mass.
245 PKCbeta) expressed in mammalian cells as two splice variants, PKCbetaI and PKCbetaII, functions in th
247 ory, constitutively active androgen receptor splice variants promote hepatocellular carcinoma progres
248 aging strategy for noninvasive imaging of AR-splice variant prostate cancer was developed by utilizin
250 scovered that its longer (L) and shorter (S) splicing variants regulate erythroid differentiation in
252 SS4+ splice variants, but not of their SS4- splice variants, replicated the respective SS4+ knockin
254 sing a miR refractory acetylcholinesterase-R splice variant showed a parallel propensity for convulsi
255 monstrate that this evolutionarily conserved splice variant shows higher antiviral activity than full
256 pocampal, and motor neuron development, with splice variants similar to the variants seen in our pati
258 e in the other we knocked down all four EGFR splice variants, so the associated effects of EGFR II-IV
259 o determine the pathogenicity of BRCA2 leaky splicing variants, some of which may not increase cancer
263 These functions are associated with over 200 splice variants (SVs), most of which are catalytic nulls
264 expression analyses identify TaAGL33 and its splice variant TaAGL22 as the FLC orthologs in wheat (Tr
267 onic stem cells including a MAP2K7Deltaexon2 splice variant that leads to increased stem/progenitor-l
269 contributes to pre-mRNA metabolism, and the splice variants that accumulate in sic mutants likely af
270 robust computational method to: (1) identify splice variants that are associated with patient surviva
271 e alternative splicing, creating an array of splice variants that are conserved from rodent to human.
272 nocarcinoma dataset from TCGA and identified splice variants that are significantly associated with p
273 rostate cancer with constitutively active AR-splice variants that can be exploited for noninvasive mo
275 redicted deleterious nonsynonymous, stop, or splice variants that segregated with severe COPD in at l
276 methylation and the human-specific AS3MTd2d3 splicing variant that has been linked to schizophrenia.
278 d 2 C-terminal domains of GluN1 results in 8 splicing variants that exhibit distinct temporal and spa
282 These results highlight the potential of RNA splice variants to serve as novel biomarkers and molecul
283 ssimilar the read map profile is from a gene splice variant, to quickly identify samples with the str
285 ethod identified 32 potential exonic cryptic splice variants, two of which were experimentally evalua
287 ably, this increased burden of NMD, INIT and splice variants was more pronounced in a set of 1397 inn
290 brain tissues we describe novel pri-miR-137 splice variants which exclude the mature miR-137 sequenc
291 vasculature through the EIIIB(+) fibronectin splice variant, which is expressed by multiple tumor typ
293 umor cells secrete PD-L1 through exosomes or splice variants, which has been described as a new mecha
295 or-3 (NCR3) gene is transcribed into several splice variants whose physiological relevance is still i
296 y unappreciated evolutionarily conserved Md1 splice variant with important functions in the regulatio
297 se mu-opioid receptor (mMOR)-1G, a truncated splice variant with six transmembrane (TM) domains of th
298 s typical of those in human retina: Ca(v)1.4 splice variants with or without exon 47 (Ca(v)1.4+ex47 a
299 In addition, NPM1 has a number of different splice variants with the major variant encoded by exons