ライフサイエンスコーパス: functional consequence

1 inct 3' UTR isoforms are more likely to have functional consequences.

2 has been placed on identifying its possible functional consequences.

3 of a locally edited epigenetic mark and its functional consequences.

4 to explore whether POPG binding to AmtB has functional consequences.

5 nd rrs (1) genes appear to be novel and with functional consequences.

6 ess reaction, linked to different neural and functional consequences.

7 posures, as well as in elucidating long-term functional consequences.

8 (RVLM) sympathetic premotor neurons and its functional consequences.

9 generally lost, with adverse structural and functional consequences.

10 in synaptic glutamate receptor subunits and functional consequences.

11 te by estrogen treatment, suggesting lasting functional consequences.

12 face or selectivity filter often have severe functional consequences.

13 re and low-frequency variants with predicted functional consequences.

14 en individual cells that often have profound functional consequences.

15 Removing polySia from the NTS had functional consequences.

16 tation are required before a new variant has functional consequences.

17 r lipid-binding compartments and discuss the functional consequences.

18 of AGO2 to mRNA targets as mutation specific functional consequences.

19 vitro investigation into the structural and functional consequences.

20 cell may be heterogeneous, which could have functional consequences.

21 d neurotrophin-3 (NT-3), with very different functional consequences.

22 ng of chromatin compartmentalization and its functional consequences.

23 al associations, and that these changes have functional consequences.

24 000 bp), implying that they may have similar functional consequences.

25 in the conical pore of CALHM6 with potential functional consequences.

26 to support interpretation of their potential functional consequences.

27 Ms) can translate the SUMOylation event into functional consequences.

28 n venom variation, and elucidate the ensuing functional consequences.

29 nomenon in human brain cells, with potential functional consequences.

30 y and quality occur as we age, and are there functional consequences?

31 most of these mutations are of little or no functional consequence, a mutation may arise that confer

32 ations, which do not have known or predicted functional consequences, accounted for all intratumoral

33 We identified inconsistencies with functional consequences across the data, including that

34 lar apparatus for proteostasis and HSR, with functional consequences amenable to experimental evaluat

35 We evaluated the functional consequence and immunologic phenotype of a no

36 variants are non-coding, and predicting the functional consequence and prioritizing variants for fun

37 e identified in patients with HCM, predicted functional consequences and associations with heart fail

38 ygous missense mutations with well-described functional consequences and clinical presentations for g

39 ly adoptable platform to investigate in vivo functional consequences and neural plasticity following

40 l mutations, but, in almost all cases, their functional consequences and relevance to disease are unk

41 s harbour recurrent mutations in cancer with functional consequences and that the mutations occur at

42 ch variants are expected to have deleterious functional consequences and to contribute to disease ris

43 tly modulate neuroinflammatory pathways with functional consequences and tumor resection mitigates mo

44 y emerged, but the underlying mechanisms and functional consequences are insufficiently understood.

45 he universality of this modification and its functional consequences are not well established.

46 hmic dynamics, their interactions, and their functional consequences are not well understood.

47 ant regulatory event, but its regulation and functional consequences are not well-understood.

48 body methylation (gbM), its origins, and its functional consequences are poorly understood.

49 but heterogeneities among GCs and potential functional consequences are poorly understood.

50 a variety of cancers, but their origins and functional consequences are still poorly understood.

51 echanisms regulating this phenomenon and its functional consequences are still under investigation.

52 but the underlying molecular mechanisms and functional consequences are unclear.

53 n mutations in their cardiomyocytes, but the functional consequences are unknown.

54 ontext, aberrant expression of CREB1 and the functional consequences are well investigated in a numbe

55 These modifications have significant functional consequences as indicated by profoundly highe

56 nd methylation resources to examine possible functional consequences as well as tissue, cell type, an

57 Importantly, dual TCR expression has functional consequences, as dual TCR cells predominated

58 g-term spaceflight may have pathological and functional consequences associated with neurovascular da

59 to characterize the phenotypic spectrum and functional consequences associated with variants in the

60 However, whether these interactions are of functional consequence at endogenous protein levels has

61 be a critical period for inducing long-term functional consequences, but the impact of repeated expo

62 ental disorders in carriers and explored its functional consequences by electrophysiological analysis

63 Experimentally measuring a variant's functional consequences can provide clearer guidance, bu

64 ultiple unrelated patients revealed distinct functional consequences contingent on the impact of the

65 e acquisition of endocrine resistance making functional consequences difficult to study.

66 butable to developmental processes and bears functional consequences, especially in humans, is unknow

67 pendent promoter was shown, which suggests a functional consequence for the association.

68 4; m-value = 0.9), demonstrating a potential functional consequence for this variant.

69 potential differential expression might have functional consequences for cell migration.

70 ong lineages of flightless paleognaths, with functional consequences for driving gene expression in t

71 tners is a nonrandom event that has distinct functional consequences for gene regulation.

72 ely parallel genetic screens to evaluate the functional consequences for human cells.

73 Functional consequences for most inflammatory disease-as

74 ession quantitative trait loci with putative functional consequences for NT5DC1, NT5DC2, and CACNB3 e

75 ulatory post-translational modification with functional consequences for proteins.

76 anges to the retinal astrocyte network, with functional consequences for the astrocyte-associated vas

77 ally dimorphic, which likely has significant functional consequences for the regulation of social beh

78 ere specific plant - AM fungal pairings have functional consequences for the symbiosis.

79 te the tumor microenvironment with potential functional consequences for tumor growth and metastasis.

80 ted framework can also rationalize important functional consequences, for example, that the interacti

81 In several cases, the functional consequences have also been investigated.

82 we re-examined RPE65 palmitoylation, and its functional consequence in the visual cycle.

83 he genesis of particular cancers, its global functional consequence in tumours has not been character

84 fungus, at the plant community level, and to functional consequences in ecosystems.

85 genomic, and transcriptomic analyses reveal functional consequences in enhanced transcription activi

86 lae-mediated tensional dysregulation and its functional consequences in oncogenic cell extrusion.

87 lopmental context, (d) body location(s), (e) functional consequence (including deleterious, neutral,

88 sidue inhibits p53-SOCS1 interaction and its functional consequences, including stimulation of p53 tr

89 Thus, glial tau pathology has significant functional consequences independent of neuronal tau path

90 The functional consequence is an LPA-induced dissemination o

91 One functional consequence is increased synthesis of the sec

92 ross-regulation are established and what the functional consequence is of coordinated or reciprocal e

93 translation coupling-together with its broad functional consequences-is indeed a fundamental characte

94 g (HisBP) may prevent adverse structural and functional consequences known to occur among some patien

95 ver, the majority of these SNVs have unknown functional consequences, leaving their disease relevance

96 were sensitive molecular targets of DM with functional consequences likely relevant for mediating ab

97 With an overall goal of exploring the functional consequence of altered receptor dynamics, in

98 ary, altered splicing efficiency is a common functional consequence of Alu polymorphisms including at

99 AP-1 is highly prevalent in leiomyomas, the functional consequence of AP-1 loss on gene transcriptio

100 To determine the functional consequence of astroglial morphological plast

101 Second, what is the functional consequence of being able to interact with bo

102 manipulates the cell cycle in hNPCs and the functional consequence of cell cycle perturbation on the

103 The functional consequence of CK1alpha mutation remains unkn

104 A functional consequence of disrupted m(6)A is a lengtheni

105 However, the functional consequence of ectopic Neurod1 expression has

106 highlights the importance of determining the functional consequence of GABA released from POMC neuron

107 However, the functional consequence of LEC priming of CD8(+) T cells

108 many tumors, so to determine if there was a functional consequence of mirn23a loss modulating immune

109 ogether, these findings suggest that another functional consequence of Nef-mediated CD4 downregulatio

110 conclude that to better understand the true functional consequence of regulatory variants, quantific

111 cription initiation at the TXNIP 3' UTR as a functional consequence of T2D methylation changes.

112 In particular the immediate functional consequence of tau misfolding for the individ

113 Here, we explored the functional consequence of the G279S substitution on the

114 Hence, we demonstrate a functional consequence of the Y402H polymorphism in vivo

115 The results highlight the importance and functional consequence of these mutations and provide an

116 regulated in ASD, providing insight into the functional consequence of this associated locus.

117 The functional consequence of this diet will now be tested i

118 To determine the functional consequence of this HDAC6-regulated phosphory

119 However, the functional consequence of this modification is unknown.

120 ing memory for syllables and word forms is a functional consequence of this structural evolutionary c

121 PNA interaction on VP24 stability is a novel functional consequence of this virus-host interaction, a

122 Here, we have elucidated the functional consequences of a NaV1.9 mutation (L1302F) th

123 Next, we characterized the functional consequences of a strong and a weak TLDc muta

124 To test the functional consequences of Ab fucosylation, we produced

125 To investigate the functional consequences of abnormal positioning, we leve

126 he development of an approach to interrogate functional consequences of actin mutations in affected p

127 Third, we consider the functional consequences of age-related sleep disruption,

128 AhR and AhR repressor (AhRR) expression and functional consequences of AhR activation in human ex vi

129 nt effect (MAVEs) can be used to measure the functional consequences of all possible variants in dise

130 The functional consequences of alternative splicing on alter

131 Lyon et al. now explore the structural and functional consequences of amino acid isomerization in a

132 studies are bringing strong evidence for the functional consequences of an allelic variation of SNAP2

133 inance of a lymphocyte subset determines the functional consequences of an immune response to pulmona

134 Here we investigate the functional consequences of an R21Q mutation on NS1's abi

135 Herein we model the functional consequences of ascites-induced compression o

136 ence of fossilized soft tissue evidence, the functional consequences of basal paravian body shape and

137 y of beta2AR-ROS interplay and the resultant functional consequences of beta2AR Cys-redox in the rece

138 The functional consequences of Ca(2+)-induced mPTP opening w

139 nd tools that can characterize and visualize functional consequences of cancer risk gene and miRNA pa

140 uctural types (CST) and evaluate drivers and functional consequences of canopy structural variation.

141 However, the functional consequences of capsaicin treatment on nasal

142 Our inferences of the functional consequences of causal variants in ENG were t

143 We also discuss comparatively the functional consequences of cell size and their potential

144 results suggest that DBS may ameliorate the functional consequences of cerebral ischemia and point t

145 ith regard to understanding risk factors and functional consequences of cerebral microinfarcts, partl

146 versus GABAergic current components to probe functional consequences of corelease.

147 ture of cancer cells and their impact on the functional consequences of CRISPR-Cas9 gene-editing has

148 conserved from yeast to human, expanding the functional consequences of cryptic transcription and pro

149 ally, genome editing was used to explore the functional consequences of deleting a single conserved e

150 omatin interactions and in understanding the functional consequences of disease-associated distal gen

151 These negative functional consequences of disinhibition may include red

152 Functional consequences of DNA methylation-deficiency un

153 cosystem response to climate change, but the functional consequences of drought-induced changes in th

154 We investigated the functional consequences of dscaml1 deficiency in the lar

155 However, the functional consequences of Dyrk1a-dependent phosphorylat

156 We assess the functional consequences of dysbiosis using a mouse model

157 ological studies were performed to determine functional consequences of each mutation.

158 ads, suggesting new avenues for detection of functional consequences of elevated temperature in natur

159 cusses the diverse regulatory mechanisms and functional consequences of EMT, with an emphasis on the

160 However, the functional consequences of enhanced c-Rel levels remain

161 insufficiency were performed to identify the functional consequences of enhanced PPARgamma expression

162 ept of cognitive control fatigue bridges the functional consequences of excessive physical training a

163 d nuclear factor kappaB (NF-kappaB), but the functional consequences of exposing cGAS to chromosomes

164 To assess the functional consequences of exposures, we quantified star

165 constituted the FA pathway in vitro to study functional consequences of FANCI:FANCD2 monoubiquitinati

166 ostatic maintenance of firing rates, and the functional consequences of feedforward versus recurrent

167 The functional consequences of focal brain injury are though

168 The prognostic significance and functional consequences of FSTL1 downregulation in lung

169 this study, we determined the structural and functional consequences of functionally known phosphoryl

170 We also investigated the functional consequences of gene expression of the allele

171 ses; however, there are indications that the functional consequences of genetic polymorphisms can be

172 limited by the challenge of interpreting the functional consequences of genetic variants.

173 ranscriptome analysis allows to discover the functional consequences of genetic variation.

174 SPR-Cas screening to rapidly investigate the functional consequences of genomic, transcriptomic, and

175 oaches to directly visualize and investigate functional consequences of GPCR-mediated signaling at th

176 However, the mechanism and functional consequences of histone succinylation are unk

177 egarding the antecedents, phenomenology, and functional consequences of humility, and discuss why con

178 Our results uncover the functional consequences of hundreds of mutations in a ph

179 The functional consequences of hyperactive mTORC1 in the RPE

180 However, the functional consequences of IG genetic variation in Ab fu

181 The functional consequences of IL33 asthma SNPs remain unkno

182 d its plasticity in disease will unravel the functional consequences of interactions between nocicept

183 tions were then used to rank and predict the functional consequences of key variants.

184 emphasizing the broad potential and diverse functional consequences of liganding lysine residues thr

185 Moreover, the causal relationship and functional consequences of LLPS in vivo are even more el

186 Furthermore, because our knowledge of the functional consequences of many genetic alterations lags

187 evolutionary origins, genetic mechanisms and functional consequences of microbial ageing.

188 s of BAP toxicity and identify the predicted functional consequences of miRNA-target regulation in ou

189 The functional consequences of MPI loss are striking: glycol

190 C-Kb in heterologous expression systems, the functional consequences of mutant channels have not been

191 The in silico prediction of the functional consequences of mutations is an important goa

192 We demonstrate widespread functional consequences of natural genetic variation on

193 In this Review, we discuss how the functional consequences of new neurons arise from the co

194 The functional consequences of NGF-TrkA signaling were exami

195 ion of those most likely responsible for the functional consequences of NO2(-) exposure.

196 d important insights into the structural and functional consequences of noise exposure on the cochlea

197 The interpretation of the functional consequences of non-coding variants can be gr

198 es might have important implications for the functional consequences of noncoding transcription.

199 h reciprocal allele swaps, demonstrating the functional consequences of noncoding variation in gene r

200 of mutational recurrence or approximate the functional consequences of nonsynonymous mutations by us

201 Functional consequences of observed mutations were teste

202 oss of most pancreatic islet cell types, the functional consequences of Pax6 loss in adults are poorl

203 Additionally, we elucidated the functional consequences of PDE6 FAT10ylation.

204 this study, we sought to further explore the functional consequences of PDK4 deficiency in DP fibrobl

205 e using RNA-seq; and (iii) morphological and functional consequences of PLAG1 deficiency by determini

206 foundation for more in-depth analysis of the functional consequences of promoter region variation wit

207 ely used method for multiplex measurement of functional consequences of protein variants.

208 To evaluate the functional consequences of PTCHD1 locus deletions, we ge

209 We demonstrate the functional consequences of rare and low frequency missen

210 ever, it is still challenging to predict the functional consequences of RBP binding peaks.

211 acknowledged, the cellular identity and the functional consequences of receptor activation is unknow

212 However, the functional consequences of receptor fragmentation are po

213 Here we evaluated the functional consequences of replacing this residue in two

214 n cTnI phosphorylation by cMLCK modifies the functional consequences of RLC phosphorylation.

215 rwent gene expression analysis to assess the functional consequences of rs641738 on hepatic MBOAT7 ex

216 We further used this inducer to probe the functional consequences of selective activation of NRF2

217 Strikingly, the functional consequences of silencing LAPNs are highly co

218 well as the first attempts to determine the functional consequences of site-specific ADP-ribosylatio

219 However, deep understanding of functional consequences of somatic mutations and identif

220 dels have enabled cellular assessment of the functional consequences of somatic mutations in vivo.

221 The functional consequences of somatic non-coding mutations

222 current knowledge of the molecular basis and functional consequences of spontaneous epimutations in p

223 alyzed the post-translational regulation and functional consequences of Stat3 activation in dorsovent

224 Our analyses revealed functional consequences of strain diversity; only 10% of

225 rial riboswitches have been studied, but the functional consequences of structural perturbations are

226 Functional consequences of such binding are suggested to

227 sequence determinants and the structural and functional consequences of such interactions remain poor

228 We also discuss the functional consequences of T4P dynamics, which have impo

229 jection fraction, the long-term clinical and functional consequences of takotsubo cardiomyopathy are

230 ochondrial fission in vivo, and assessed the functional consequences of targeted elimination of the D

231 in defined regions of the myocytes, and the functional consequences of that association, remain to b

232 expressed GlyRs characterised in detail the functional consequences of the alpha1S270T startle mutat

233 ability to characterize the subtle and early functional consequences of the CAG expansion longitudina

234 Further studies are needed to verify the functional consequences of the identified mechanisms of

235 ecent studies have provided insight into the functional consequences of the most frequently mutated C

236 the cause of DEE in eight probands, but the functional consequences of the mutations remained elusiv

237 4,5-bisphosphate (PIP2), the mechanisms and functional consequences of the physical interaction of c

238 e increases hippocampal neurogenesis but the functional consequences of the postlesional response is

239 cell-type-specific and/or context-dependent functional consequences of the risk variants linked to b

240 Our results address functional consequences of the stochastic effects of mic

241 ith experimental animal data, the downstream functional consequences of the transfer of circulating s

242 We investigated the structural and functional consequences of the variants identified in PR

243 ergo active secretion and the mechanisms and functional consequences of the various extracellular tau

244 ures, their interaction with host cells, and functional consequences of their actions.

245 ing their expression and regulation, and the functional consequences of their insertion and retention

246 To study functional consequences of these FN1 mutations on the pr

247 with autism spectrum disorder (ASD), but the functional consequences of these genetic risk factors fo

248 examine how SutA interacts with RNAP and the functional consequences of these interactions.

249 a unique subset of prostate cancers but the functional consequences of these mutations and whether t

250 The functional consequences of these mutations in CLL are un

251 gth isoform changes may better elucidate the functional consequences of these mutations.

252 However, the structural and functional consequences of these perturbations remain la

253 odified by DMF in human immune cells and the functional consequences of these reactions remains incom

254 are generated, as well as the expression and functional consequences of these signatures in homeostas

255 The functional consequences of these widespread alterations

256 studies are bringing strong evidence for the functional consequences of this allelic variation of SNA

257 brane of patients with end-stage HF, but the functional consequences of this are largely unknown, par

258 calize with osteoclast regions; however, the functional consequences of this association remain unkno

259 To understand the functional consequences of this change in surface electr

260 However, the functional consequences of this dysbiosis upon asthma su

261 We tested the functional consequences of this evolutionary variability

262 nt cerebellar cells and hint at the distinct functional consequences of this heterogeneity.

263 To examine the functional consequences of this interaction, we employed

264 The functional consequences of this negative effect and the

265 L or mDia1DeltaN3/Phb2-Amino) to dissect the functional consequences of this partnership on Myogenin

266 ys a role in cell cycle progression, but the functional consequences of this polymorphism have not be

267 Future research efforts should elucidate the functional consequences of this redistribution.

268 s different channels, and to ask whether the functional consequences of this splicing have been prese

269 The authors further explore the functional consequences of this variant on brain T3 acti

270 In this work, we study the functional consequences of this variation by investigati

271 Furthermore, the functional consequences of this was demonstrated with th

272 characterized the mechanistic basis and the functional consequences of this.

273 Functional consequences of variants were analyzed in vit

274 OLs) show transcriptional heterogeneity, the functional consequences of which are unclear.

275 slational modification, the full targets and functional consequences of which are unknown.

276 This inhibitory OFF-subregion bias has a functional consequence on spatial integration of inputs

277 described in people with obesity(1-3), their functional consequences on adiposity remain elusive.

278 the circulating proteolytic profile in mice: functional consequences on cellular migration and invasi

279 thologies have different temporal onsets and functional consequences on neural activity and behavior.

280 ell RNA sequencing was used to determine the functional consequences OTX2 gene editing on the populat

281 TR lengths in ABC transporters could lead to functional consequences regarding posttranscriptional ge

282 (PV(+)) interneurons in schizophrenia, their functional consequences remain elusive.

283 lement system have been described, but their functional consequences remain largely unexplored.

284 SNARE protein complexes are known, but their functional consequences remain largely unexplored.

285 ns of these interactions and their potential functional consequences remain unclear.

286 However, whether this association has a functional consequence remains elusive.

287 ions are widespread, and the nature of their functional consequences, remains largely unknown.

288 The functional consequence(s) of EndMT in kidney fibrosis re

289 Nucleotide-level functional consequence scores for non-coding variants ca

290 increasing effort is made to understand the functional consequences that may underlie significant as

291 y understand human genetic variation and its functional consequences, the specific distribution of va

292 ersity of macrophage polarization, attribute functional consequences to different M2 stimuli, and pro

293 ones released upon necrotic cell death, with functional consequences to inflammation and tissue damag

294 able us to assign direct transcriptional and functional consequences to locus-specific chromatin modi

295 tumor clones at single-cell resolution links functional consequences to somatic alterations.

296 M1056I, and R1150Q/R1150W) and investigated functional consequences using macroscopic rubidium ((86)

297 ryonic stem cell-derived cardiomyocytes, and functional consequences were explored in heterologous ex

298 Functional consequences were investigated by RNA studies

299 Functional consequences were investigated in silico and

300 ted polyubiquitylation of p53 on Lys-132 had functional consequences, with cells in which FBW7alpha-m