ライフサイエンスコーパス: functional consequence

1 variants weighted by a measure of predicted functional consequence.

2 erted into the identified sites with minimal functional consequence.

3 n a gene provides further insight into their functional consequence.

4 on, whereas the CFH-411T polymorphism lacked functional consequences.

5 nt origin of distinct mutations with similar functional consequences.

6 tion in hominids with a strong potential for functional consequences.

7 oanatomical and connectional modularity have functional consequences.

8 e of the nuclear envelope-can have important functional consequences.

9 but perturbation of the organism may reveal functional consequences.

10 the Microprocessor complex with wide-ranging functional consequences.

11 ften de-emphasizes genetic variation and its functional consequences.

12 l biological nucleic acids can have dramatic functional consequences.

13 the structural basis of the mechanistic and functional consequences.

14 MNs and mucosal epithelia and the associated functional consequences.

15 s and non-GPCR proteins and their associated functional consequences.

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

17 ritical stages of development have important functional consequences.

18 tion with similar, but not always identical, functional consequences.

19 r's brain disorder and sought to explore its functional consequences.

20 us short-term plasticity has real, important functional consequences.

21 en individual cells that often have profound functional consequences.

22 l shifts in the dynamic ensemble, with large functional consequences.

23 ociated with sequence divergence and varying functional consequences.

24 compilations and are enriched for predicted functional consequences.

25 nzyme complex to predict their molecular and functional consequences.

26 l ion-induced full alpha-helix, with unknown functional consequences.

27 Removing polySia from the NTS had functional consequences.

28 face or selectivity filter often have severe functional consequences.

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

30 vitro investigation into the structural and functional consequences.

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

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

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

34 molecular adaptation, indicates an important functional consequence and contribution to the structura

35 tion to help prioritize variants and discern functional consequence and hence the biological basis of

36 and relate these new structural insights to functional consequences and cell responses to complement

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

38 In summary, this study sheds light on the functional consequences and evolutionary characteristics

39 for AP2sigma2 mutations, characterized their functional consequences and investigated the genetic mec

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

41 that Ras1 undergoes phosphorylation, but the functional consequences and regulation of Ras1 phosphory

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

43 ion data is important to identify sites with functional consequences and to deduce global consequence

44 for writing the tubulin code, explore their functional consequences, and identify outstanding challe

45 equency of occurrence alone or prediction of functional consequences are insufficient to distinguish

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

47 r effects in clinical settings, although the functional consequences are not clear.

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

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

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

51 died, the adaptive variant in Asians and its functional consequences are still unknown.

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

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

54 s haplotype is significantly associated with functional consequences at the level of transcriptional

55 tween distinct forms of Swi/Snf has profound functional consequences, but we understand little about

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

57 ressions leads to variable morphological and functional consequences, correlating with the severity o

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

59 To better define the functional consequences for a loss-of-function, we gener

60 lity traits, as social interactions can have functional consequences for consistency in behaviour and

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

62 is shown to alter receptor trafficking with functional consequences for GLP-1R signaling.

63 Functional consequences for most inflammatory disease-as

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

65 llows fast reorganization of OB network with functional consequences for odour information processing

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

67 Numerous reports show functional consequences for signaling and trafficking of

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

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

70 As a functional consequence, glycine protects against excitot

71 -kinase C (ITPKC) (rs28493229) has important functional consequences, governing ITPKC protein levels

72 silico phosphorylation of sites with similar functional consequences has comparable outcomes on a tar

73 he damage distribution can have considerable functional consequences, highlighting the need to consid

74 656 and L-759,633 have off-target effects of functional consequence in primary cells and we believe t

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

76 We then determined the functional consequences in mitochondria isolated from th

77 on of RPTPzeta/phosphacan may have different functional consequences in neurons and glia.

78 e landscape of the genetic defects and their functional consequences in T-cell neoplasms is critical

79 in our outer-membrane model, which may have functional consequences in terms of OmpA adhesion to hos

80 We investigate alternative splicing and its functional consequences in the model mushroom forming fu

81 s during neural differentiation, with severe functional consequences in vivo.

82 ke it difficult to correlate clustering with functional consequences in vivo.

83 e ABCA1 within engulfing phagocytes and with functional consequences in vivo.

84 s between individual cells can have profound functional consequences, in both unicellular and multice

85 ox1 upregulation in mature beta-cells has no functional consequences; in contrast, Prox1 overexpressi

86 This functional consequence is often generated by the combine

87 Identifying driver mutations and their functional consequences is critical to our understanding

88 al polymorphisms in noncoding sequences have functional consequences is still unknown.

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

90 encing clones, these epigenetic changes, and functional consequences, may affect subpopulations of pl

91 tial role of Mg(2+) as a cofactor for ATP, a functional consequence of [Mg(2+)]i oscillations is dyna

92 Thus being able to interpret the functional consequence of a variant is essential for ide

93 We discovered that the functional consequence of abrogating two-stage DNA demet

94 As a functional consequence of AnxA4-mediated AC inhibition,

95 h HIF-1alpha and HIF-2alpha and assessed the functional consequence of ARNT deficiency on fetal liver

96 e provides a framework for understanding the functional consequence of disease-related hDNMT1 mutatio

97 To measure the functional consequence of dopamine release, D2-receptor

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

99 A functional consequence of high permeability of blood ves

100 The functional consequence of mutations has not been related

101 The functional consequence of Parp1 heterozygosity on BRCA2

102 that modify agonist affinity and mapped the functional consequence of receptor modification onto thr

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

104 As a functional consequence of such impaired internalization

105 The functional consequence of the EMT program during fibroti

106 However, the functional consequence of these differences is unknown.

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

108 We identified the functional consequence of these mutations in GBMs to be

109 However, the functional consequence of these risk alleles is unknown.

110 The functional consequence of this allosteric ligand-mediate

111 We evaluated the functional consequence of this causative variant on the

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

113 ing), with little knowledge of the timing or functional consequence of this event.

114 The functional consequence of this finding is an exceptional

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

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

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

118 se data provide significant insight into the functional consequences of 100S ribosome loss for protei

119 tion, and surface biotinylation to study the functional consequences of a frequent CLCNKB mutation th

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

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

122 abolism and gives valuable insights into the functional consequences of abiotic stresses.

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

124 The observation of functional consequences of Abs specific for cryptotopes

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

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

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

128 This study expands our knowledge of the functional consequences of aHUS-associated C3 mutations

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

130 To examine the functional consequences of alphaB-crystallin induction i

131 that will be important for understanding the functional consequences of altered tau splicing.

132 ugh RNA stability and luciferase assays, and functional consequences of altering the levels of this i

133 ss is illustrated by analysing the potential functional consequences of alternative splicing in human

134 To better understand the role of the functional consequences of alternative splicing of CXCR3

135 The functional consequences of alternative splicing on alter

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

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

138 hat emerges in the context of infection, the functional consequences of angiogenesis in tuberculous g

139 ition, we summarize progress in defining the functional consequences of associated alleles for coding

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

141 These data emphasise the functional consequences of blood monocyte lipid accumula

142 e approach, named FATHMM-MKL, to predict the functional consequences of both coding and non-coding se

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

144 ity evaluations can successfully predict the functional consequences of cancer mutations on protein a

145 However, the functional consequences of capsaicin treatment on nasal

146 ubunit communication over a distance and the functional consequences of CDK phosphorylation.

147 ed biological ageing in atherosclerosis, the functional consequences of cell ageing on cells comprisi

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

149 We further examined the functional consequences of changing lipid conditions to

150 conditional transgenic mice, we explore the functional consequences of circuit-specific GABA type-B

151 ells, providing a new tool for exploring the functional consequences of circular RNA expression acros

152 ll documented, few studies have investigated functional consequences of cocaine and stress at the lev

153 ect needs to be considered in predicting the functional consequences of codon choice.

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

155 their underlying mechanisms and discuss the functional consequences of CRs for adaptation, fungal ev

156 animal model of cocaine seeking to determine functional consequences of cue exposure using fluorodeox

157 high-dose aspirin therapy might reflect the functional consequences of decreased prostaglandin D2 re

158 e binding and catalysis, and rationalize the functional consequences of disease-associated mutations.

159 These negative functional consequences of disinhibition may include red

160 Here we analyzed the functional consequences of Dnmt3a inactivation in a mous

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

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

163 normal stress granule (SG) assembly, but the functional consequences of failed SG assembly remain unk

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

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

166 To examine functional consequences of GNPAT deficiency, we performe

167 Because the functional consequences of gp120 binding to CD4(+) T cel

168 This provides a new mechanism to explain the functional consequences of GPCR signaling at intracellul

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

170 The functional consequences of HCMV UL138 protein expression

171 er, little is known about the structural and functional consequences of HDV variability.

172 pite considerable investigation to date, the functional consequences of heterozygosity for ACTN3 are

173 Functional consequences of histone O-GlcNAcylation (O-Gl

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

175 Understanding the quantitative functional consequences of human disease mutations requi

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

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

178 The functional consequences of interaction with the other tw

179 ) to investigate the Rho dimer interface and functional consequences of its disruption.

180 MC1, little is known regarding the basis and functional consequences of its interaction with BRCA2.

181 This work provides insight into the functional consequences of JAK2V617F-TET2 comutation in

182 ng is a foundational tool for addressing the functional consequences of large numbers of mutants, but

183 DE 4-hydroxynonenal (HNE)], establishing the functional consequences of LDE modification on individua

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

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

186 ports, little is yet known of the extent and functional consequences of miRNA-mediated regulation of

187 In this study, we assessed the functional consequences of MLK4 mutations in colon tumor

188 We assessed functional consequences of modest reductions in PU.1 exp

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 ent advances in necroptosis research and the functional consequences of necroptotic cancer cell death

193 est in understanding the molecular basis and functional consequences of neutrophil-epithelial interac

194 dies in Drosophila can distinguish different functional consequences of newly-described DNM1L alleles

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

196 orithms, CADD and GWAVA, when predicting the functional consequences of non-coding variants.

197 technologies useful for dissecting potential functional consequences of non-coding variants.

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

199 uamous cell carcinoma cells to delineate the functional consequences of Notch activation and inhibiti

200 This study set out to elucidate the functional consequences of OPN binding to eosinophil-rec

201 nced our ability to measure the anatomic and functional consequences of optic nerve injury.

202 Second, we sought to assess the functional consequences of oxygen limitation at rest by

203 The functional consequences of p70S6k phosphorylation were t

204 We investigated the functional consequences of partial and full Sgta ablatio

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

206 evidence on their corresponding kinases, the functional consequences of phosphorylation on activity o

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

208 ta-adrenergic signaling, we investigated the functional consequences of PLB expression in hESC/iPSC-v

209 le-copy genes has provided insights into the functional consequences of polyploidy and epigenetic reg

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

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

212 However, the functional consequences of receptor fragmentation are po

213 This study investigated the functional consequences of reduced HDL-S1P content in CA

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

215 The functional consequences of rescue were prominent with re

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

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

218 RNA and cellular studies to investigate the functional consequences of sequence variants in the PIGY

219 future research into the molecular bases and functional consequences of sex chromosome dosage effects

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

221 Investigating other functional consequences of size changes of WPBs, we also

222 sly unavailable opportunity to elucidate the functional consequences of small-molecule-signal- and pr

223 inhibitors that were used to understand the functional consequences of SMYD2 inhibition.

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

225 mic analysis of breast cancer elucidates the functional consequences of somatic mutations, narrows ca

226 tures allow a molecular understanding of the functional consequences of somatic PFK1 mutations identi

227 However, the functional consequences of such clustering have been unc

228 ngly studies are being designed to probe the functional consequences of such fungal dysbiosis on heal

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

230 However, the biological and functional consequences of such reprogramming are not ye

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

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

233 The functional consequences of the cleavages were determined

234 The functional consequences of the identified mutation were

235 Future analysis of the functional consequences of the injection-only mechanism

236 The functional consequences of the majority of mutations ide

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

238 Furthermore, we characterized the functional consequences of the Neandertal haplotype in t

239 4,5-bisphosphate (PIP2), the mechanisms and functional consequences of the physical interaction of c

240 ingle-nucleotide polymorphisms in TLR10, and functional consequences of the TLR10 SNPs were assessed

241 ntifying the spatiotemporal requirements and functional consequences of the up- and down-stream signa

242 Our study demonstrates the functional consequences of the variability in human seru

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

244 However, the functional consequences of these central domain RyR2 mut

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

246 pathways in the B7-CD28 family, the diverse functional consequences of these inhibitory signals on i

247 s (MNCs) is well established in obesity, the functional consequences of these interactions are less u

248 The functional consequences of these modifications are poorl

249 characterized PTMs of key BER proteins, the functional consequences of these modifications at the pr

250 However, the functional consequences of these mutations and their rol

251 However, elucidating the functional consequences of these variants, and their int

252 The functional consequences of these widespread alterations

253 ern acetylation versus crotonylation and the functional consequences of this "choice" remain unclear.

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

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

256 e increased lipid droplet (LD) size, but the functional consequences of this are unknown.

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

258 The functional consequences of this event on signaling pathw

259 A molecular understanding of the functional consequences of this genetic variation is com

260 The functional consequences of this interaction are also add

261 d pathologies, although the precise role and functional consequences of this interaction in vivo rema

262 llular location of this interaction, and the functional consequences of this interaction on the basal

263 llular location of this interaction, and the functional consequences of this interaction on the basal

264 AIV as a ligand of CHIR-A and describes the functional consequences of this interaction.

265 us toxin light chain (TeLC) and compared the functional consequences of this manipulation with non-ce

266 wever, despite four decades of research, the functional consequences of this modification remain unkn

267 The functional consequences of this negative effect and the

268 However, the functional consequences of this outside of the HIF pathw

269 e used computational modeling to explore the functional consequences of this partial mismatch and fou

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

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

272 ongly connected with visual regions, but the functional consequences of this structural organization

273 ral distinct types of ligands, and the known functional consequences of those interactions.

274 To understand the molecular and structural/functional consequences of TRPV1 phosphorylation, we gen

275 We investigated the functional consequences of uncharacterized SNPs (Q212R,

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

277 c neurons, using pCAG-lacZ rats, was without functional consequence on the cue-induced reinstatement

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

279 of the blastocyst is known to occur, but its functional consequences on early developmental events is

280 romeric complexes with potentially important functional consequences on hyaluronan synthesis.

281 evelopment, morphology, and plasticity, with functional consequences on learning and memory formation

282 lying histone-induced cardiotoxicity and the functional consequences on left ventricle and right vent

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

284 factors of the tumor microenvironment, with functional consequences on tumor cell signaling and meta

285 its progression, reduce the magnitude of its functional consequences, or all of these.

286 e expression and DNA methylation, suggesting functional consequences related to TR variation.

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

288 ond the emergence of spatial patchiness, its functional consequences remain unclear.

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

290 s into oligomeric structures, with potential functional consequences that are not well understood.

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

292 pulated the p21(Cip1) levels to evaluate the functional consequence to MBV.

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

294 nowledge of how these sites control specific functional consequences unlocks new strategies for the d

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

296 th mutations in tsA-201 cells to study their functional consequences using whole-cell patch-clamp.

297 Functional consequences were investigated by RNA studies

298 demonstrated to interact with VP35, but the functional consequences were unclear.

299 urface antigen (HBsAg) and KCs, and possible functional consequences, were assessed.

300 known, however, that some mutations have no functional consequence, while others may have a major de