ライフサイエンスコーパス: phenotypic

1 e MECP2 transgene in Mecp2R294X mice rescued phenotypic abnormalities including early death and demon

2 not only track with age, but also relates to phenotypic aging.

3 ly screen for the presence of MDS-associated phenotypic alterations (MDS-PA) in the bone marrow of 28

4 These phenotypic alterations are initiated by HDAC1 in GBM cor

5 MR gene detection positively correlated with phenotypic AMR testing, and resistance to empirical anti

6 Preliminary phenotypic analyses revealed that within the CHR sample,

7 estigated by transcriptomic, epigenomic, and phenotypic analyses.

8 Phenotypic analysis confirmed the extent and the stabili

9 Phenotypic analysis of a suite of double mutants lacking

10 Phenotypic analysis showed that a more prostrate and spr

11 rtance of gene-environmental interactions in phenotypic analysis.

12 Twelve-month old Aip+/- mice demonstrated phenotypic and biochemical evidence of GH excess includi

13 c deficiency recapitulate the several of the phenotypic and biochemical features of the human disorde

14 herapy is effective in the reconstitution of phenotypic and functional abnormalities of T(FH)-B cell

15 This study examined the phenotypic and functional changes in Tregs in response t

16 The phenotypic and functional dichotomy between IRF8(+) type

17 cle to this is our poor understanding of the phenotypic and functional heterogeneity of stromal cells

18 + CXCR5-T and CD19 + B cells had significant phenotypic and functional reconstitution post DAA therap

19 We review the phenotypic and functional similarities and differences o

20 rge-scale multi-modal imaging with extensive phenotypic and genetic data offers an unprecedented reso

21 Using phenotypic and genomic data from over 100,000 UK Biobank

22 ured under artificial conditions reflect the phenotypic and genomic profiles of their corresponding p

23 We assess patterns of phenotypic and genotypic assortment, and ask whether alt

24 s, and their inbred germplasm and associated phenotypic and genotypic data serve as enduring resource

25 In this study, we have determined phenotypic and genotypic differences between EAEC strain

26 We used both phenotypic and genotypic methodologies to characterize t

27 Nasopharyngeal swabs were analyzed by phenotypic and genotypic methods to detect pneumococcal

28 s sought to more comprehensively examine the phenotypic and genotypic relationships of LDL-C with T2D

29 These results expand the phenotypic and genotypic spectrum of EYS-RD, accounting

30 We also propose an ideal genotypic, phenotypic and germplasm 'package' that multi-parent pop

31 ants in different subunits display different phenotypic and inheritance characteristics.

32 ow strong seasonal polyphenism in a suite of phenotypic and life-history traits, and their adults are

33 h seed oil-related traits and metabolites by phenotypic and metabolic genome-wide association studies

34 Joint analysis for the phenotypic and molecular information maximized a compreh

35 between periods of high evolutionary rates (phenotypic and molecular) and expansion in phenotypic di

36 on coincident with the appearance of notable phenotypic and physiological adaptations such as flight,

37 A large number of socioeconomic, phenotypic and psychological characteristics differed be

38 However, both the parental phenotypic and the GRS associations may depend on matern

39 Some phenotypic and trait data are available in a semantic la

40 e predominant subset at baseline, cells with phenotypic and transcriptional characteristics of follic

41 show that LLEC from mice express a distinct phenotypic and transcriptional signature that shares cha

42 Phenotypic and transcriptomic profiling of c-Maf-deficie

43 CL) is confounded by its pronounced genetic, phenotypic, and clinical heterogeneity.

44 tructured and standardized genetic, genomic, phenotypic, and disease-related data for eight species,

45 s depends upon interactions between genetic, phenotypic, and environmental factors.

46 Pedimap can showcase pedigree relationships, phenotypic, and molecular data.

47 tion and customization of such an analytical phenotypic approach.

48 r proteomic analysis of patient samples, and phenotypic assays in personalized cancer avatars.

49 e used mass spectrometry-based proteomic and phenotypic assays to demonstrate that the expression of

50 Our work, including genomic analyses, phenotypic assays, and identification of secondary metab

51 By integrating analyses of social structure, phenotypic assortment and reproductive outcomes within a

52 Rapid phenotypic AST for Ng is challenged by the pathogen's sl

53 at can be dissected molecularly and used for phenotypic benefit in brain disorders.

54 significantly increased calcium deposition, phenotypic change and sEV secretion compared to WT CASMC

55 essive phenotype, ERalpha knockdown caused a phenotypic change to that of the less aggressive phenoty

56 nhanced biofilm formation, both of which are phenotypic changes associated with a chronic infection s

57 otentiation without inducing genotoxicity or phenotypic changes in a human embryonic stem cell report

58 LPS induced phenotypic changes in aHSCs (rounding, size reduction) a

59 ple markers for cellular differentiation and phenotypic changes in cancer and wound healing.

60 revealed that NPC1 deficiency leads to early phenotypic changes in microglia that are not associated

61 Functional/phenotypic changes induced in CD8(+) T or natural killer

62 dicating their potential contribution to the phenotypic changes observed in the dwarf mutant.

63 n, correlate with structural, functional and phenotypic changes occurring in the aortic valve interst

64 ith Lactobacillus reuteri did not impose any phenotypic changes of the conventional T cell compartmen

65 Physiologically, we found that the phenotypic changes of the dwarf mutant were associated w

66 ncestral variation in plasticity and tracked phenotypic changes over time.

67 ies are necessary to investigate genetic and phenotypic changes that determine clinically relevant de

68 These phenotypic changes were accompanied by reductions in act

69 duced osteoclast formation, endothelial cell phenotypic changes, foam cell formation, and the express

70 during disease, microglia undergo remarkable phenotypic changes, which reflect the acquisition of spe

71 ver of regulatory changes that lead to rapid phenotypic changes.

72 thogenesis, depending on the nature of their phenotypic changes.

73 genes play an important role regulating SMC phenotypic changes.

74 littermate controls, the NF1 model develops phenotypic characteristics of human NF1: [1] cafe-au-lai

75 However, type-specific phenotypic characteristics were only detected when the a

76 ty phenotyping reaches hitherto inaccessible phenotypic characteristics.

77 of systems enabling quantitative and dynamic phenotypic characterization of individual cells and, in

78 Further phenotypic characterization revealed heterogeneous neutr

79 reciprocal frequency changes of two discrete phenotypic classes.

80 Additionally, a phenotypic comparison of IgG-SCs presented in the spleen

81 ithelial-mesenchymal phenotype can alter the phenotypic composition of a population.

82 ependently influence mitosis such that their phenotypic consequences can be combined or segregated by

83 Remarkably, to date, the untoward phenotypic consequences of disrupting allelic and non-al

84 e a powerful source of information about the phenotypic consequences of gene disruption: genes that a

85 cogenic driver of SSTs, defining a genotypic-phenotypic correlation in ovarian neoplasms.

86 es better understanding of the mechanisms of phenotypic correlations and is less subject to confoundi

87 US burden was observed after the addition of phenotypic criteria.

88 Gower distance matrix based on phenotypic data and identity by state (IBS) distance mat

89 We discuss barriers to integration of phenotypic data and make recommendations for developing

90 ationally useful, semantically interoperable phenotypic data ecosystem.

91 However, collecting phenotypic data for large numbers of plants remain a bot

92 presented by the pedigrees, marker data, and phenotypic data for the actual germplasm in a breeding p

93 t FHB resistance, plant height, and maturity phenotypic data was conducted to improve the mapping res

94 t provides access to large-scale genetic and phenotypic datasets with more than 1000 studies.

95 auxin response and widespread auxin-related phenotypic defects in Arabidopsis (Arabidopsis thaliana)

96 molecules and effective polyploidy can cause phenotypic delay over a wide range of parameters.

97 Phenotypic delay-the time delay between genetic mutation

98 We detected phenotypic differences among the engineered viruses.

99 nd genetic differentiation can contribute to phenotypic differences between populations.

100 There were no apparent phenotypic differences compared with European CANVAS pat

101 e study aimed to determine whether there are phenotypic differences in cognition and behaviour betwee

102 urers was reduced by up to 4 log CFU/ml, and phenotypic differences in colony size and color were app

103 is associated with epigenetically conferred phenotypic differences, environmental adaptability, and

104 ection is an important driver of genetic and phenotypic differentiation between species.

105 We showed that the phenotypic discordance can be traced back to variations

106 (phenotypic and molecular) and expansion in phenotypic disparity in reptile evolution.

107 ed diverse environments, often through rapid phenotypic divergence and adaptive radiation.

108 random founder effects can facilitate rapid phenotypic divergence even in the absence of selective p

109 w genotypic divergence has led to behavioral phenotypic divergence in a vertebrate.

110 ent is extremely challenging in women due to phenotypic diversity and the absence of extracardiac man

111 stic pulsing of gene expression can generate phenotypic diversity in a genetically identical populati

112 ong sites and determined the extent to which phenotypic diversity in B. gracilis was correlated with

113 There was also greater phenotypic diversity in daptomycin resistance within dap

114 factors, holds the key to understanding the phenotypic diversity seen in AD patients.

115 equential for understanding the evolution of phenotypic diversity.

116 describe the molecular mechanism leading to phenotypic diversity.

117 he role of whole-genome sequencing, expanded phenotypic drug susceptibility testing, and enhanced cas

118 ition, genetic dominance also determines the phenotypic effects of horizontally acquired MGE-encoded

119 led to fully reverse the transcriptional and phenotypic effects of prolonged treatments, indicating d

120 icted non-synonymous mutations with possible phenotypic effects.

121 Functional phenotypic end points included effects on beating parame

122 oduce certain types of variation that orient phenotypic evolution along preferred directions?

123 Importantly, many instances of accelerated phenotypic evolution are detected at the origin of major

124 ly applied to studying the genetic basis for phenotypic evolution as whole genomes continue to popula

125 In contrast to widespread examples of phenotypic evolution driven by introgression, our analys

126 een lineage-specific rates of speciation and phenotypic evolution using phylogenetic data.

127 Changes in gene regulation underlie much of phenotypic evolution(1).

128 d nonmigrants show evidence for contemporary phenotypic evolution.

129 x disease genes that are good candidates for phenotypic expansion.

130 The phenotypic exuberance displayed in this battlefield poin

131 ective was to evaluate the effect that local phenotypic factors play in the volumetric reduction of t

132 murine carcinomas, each endowed with unique phenotypic features and functions.

133 ipotency and harbor molecular, cellular, and phenotypic features characteristic of formative pluripot

134 To accurately report the expression of key phenotypic features of cells, scRNA-seq platforms are ne

135 Sixty-two per cent of participants had phenotypic features that met the diagnostic criteria for

136 ll lymphomas (LBCLs) share morphological and phenotypic features with adult types but have better pro

137 ation and drusen type were the most relevant phenotypic features.

138 f miR-1-3p by an inhibitor results in 67-77% phenotypic females.

139 mice and compare these characterizations to phenotypic findings in humans with biallelic FLVCR2 muta

140 Clustering of the resulting phenotypic fingerprints revealed a role for several gene

141 ommodation, an evolutionary process by which phenotypic flexibility in response to environmental vari

142 ontaneous CLL regression cases incorporating phenotypic, functional, transcriptomic, and genomic stud

143 reflect worse severity) and differed among 5 phenotypic groups.

144 aining FG-nucleoporins and ubiquitin are the phenotypic hallmark of Torsin ATPase manipulation.

145 ic and clinically relevant insights into the phenotypic heterogeneity and metabolic rewiring that und

146 used the model to probe the implications of phenotypic heterogeneity and plasticity for different th

147 enic neurodevelopmental disorders because of phenotypic heterogeneity and the absence of large-scale

148 Phenotypic heterogeneity exists within collectively inva

149 e-cell analysis can characterize intratumour phenotypic heterogeneity in a disease-relevant manner, w

150 sources can break this trade-off by evolving phenotypic heterogeneity in lag time.

151 ned pathogenic mechanisms, and the basis for phenotypic heterogeneity in this disorder, remain unknow

152 functioning bestrophin channels, significant phenotypic heterogeneity is evident.

153 This phenotypic heterogeneity requires the production of the

154 iseases present with substantial genetic and phenotypic heterogeneity, making assessment of these dis

155 diseases displaying significant genetic and phenotypic heterogeneity.

156 arse the neurometabolic signature for ASD by phenotypic heterogeneity.

157 racterized by vast inter- and intra-familial phenotypic heterogeneity.

158 ps and are characterized by high genetic and phenotypic heterogeneity.

159 characterizing the presence, frequency, and phenotypic impact of genetic variation, the evolutionary

160 We devised a novel strategy to test the phenotypic impact of individual microRNA-target interact

161 To investigate phenotypic inducibility of meropenem resistance, short r

162 asion by merging ancestral, topographic, and phenotypic information from 12 human colorectal tumors (

163 based approach that incorporated genomic and phenotypic information, we characterized the metabolism

164 Our study places phenotypic integration firmly into an ecological context

165 This work charts the phenotypic landscape of ASD-associated genes, offers in

166 ntegration of distinct genetic, genomic, and phenotypic levels, including combining spatially resolve

167 heterogeneity at the genomic, epigenetic and phenotypic levels.

168 to assess the adaptations at the genetic and phenotypic levels.

169 The overall, phenotypic local correlation has a significant basis in

170 Here, we made use of a phenotypic male fertility difference between two moss (P

171 -3p mimic in early embryos results in 87-92% phenotypic males, whereas knockdown of miR-1-3p by an in

172 a variety of mutated genes and heterogeneous phenotypic manifestations, allowing for the identificati

173 In this study we investigated the phenotypic markers and chondrogenic potency of avascular

174 Phenotypic markers of circulating granulocytes are stron

175 fore requires rapid and robust extraction of phenotypic measurements from image data.

176 diverse populations, prioritize more precise phenotypic measures, and evaluate evidence for shared ge

177 These findings imply a simple phenotypic model of TCR signaling in which multiple T ce

178 This perspective will review current phenotypic models, as well as the chemical screening str

179 AHR can affect atherosclerosis by regulating phenotypic modulation of SMC.

180 mooth muscle response to vascular stress and phenotypic modulation of this cell type in coronary arte

181 e structural effects of a patient-derived CF-phenotypic mutation, E217G, located in the loop region o

182 eat potential to accelerate the discovery of phenotypic negative regulatory elements in the noncoding

183 The phenotypic network inferred via the Hill-Climbing algori

184 provide measures of how much any individual phenotypic observation has contributed to the prioritiza

185 Potential links to phenotypic outcomes will be explored in the next stage o

186 ent strains, and also identified strains and phenotypic parameters in which sex played a significant

187 The results show that bimodal phenotypic partitioning of macrophages is primed during

188 were predictive of GVHD onset 3-6 wk before phenotypic pathology.

189 The observed phenotypic patterns are likely mediated by nonsense-medi

190 F(0) animals too often demonstrate variable phenotypic penetrance due to the mosaic nature of editin

191 sing flow cytometry might not provide a full phenotypic picture.

192 Variation in phenotypic plasticity among invader populations suggests

193 porating the potential for transgenerational phenotypic plasticity and genetic adaption, the keys to

194 introduced ranges, showing the importance of phenotypic plasticity and genetic control of change duri

195 Here we reveal extensive phenotypic plasticity and niche complementarity in oleag

196 Some models of phenotypic plasticity conceptualise the response as a re

197 The role of phenotypic plasticity in adaptive evolution has been deb

198 Here, we show that phenotypic plasticity in eyespot size in response to env

199 Phenotypic plasticity in relation to temperature can all

200 igate how natural and sexual selection shape phenotypic plasticity in two congeneric and phenotypical

201 s provide the opportunity to investigate how phenotypic plasticity is used to cope with environmental

202 e climate of genotype provenance and whether phenotypic plasticity maintains performance in a changin

203 how, when, and where polygenic evolution of phenotypic plasticity proceeded from standing variation

204 atherosclerotic lesions exhibit far greater phenotypic plasticity than generally believed, with Klf4

205 Understanding phenotypic plasticity under natural conditions is hinder

206 pite such signs of local adaptation, overall phenotypic plasticity was not sufficient for phenologica

207 nsition, thereby linking genomic plasticity, phenotypic plasticity, and metastasis.

208 a less severe impact, indicating beneficial phenotypic plasticity.

209 common pattern is the recurrence of the same phenotypic polymorphism in many species of a clade.

210 Participants with phenotypic presatovir resistance had significantly highe

211 We highlight phenotypic presentation as a reflection of pathogenesis

212 ematopoietic marker CD45, have a genetic and phenotypic profile resembling that of tumor infiltrating

213 he selected models, we demonstrated that the phenotypic profile that distinguishes non-obstructive CA

214 We construct phenotypic profiles for point mutations crossed against

215 Moreover, transcriptional and phenotypic profiling suggests that MCD/C5s, as a class,

216 multivariate trait space indicates that the phenotypic range of each group extends well beyond its o

217 rrs The sensitivity and specificity against phenotypic reference were 100% and 100% for isoniazid, 9

218 nd assessed associated clinical features and phenotypic relatedness by using HPO-based semantic simil

219 new adipose IR genes by overexpression-based phenotypic rescue in the Simpson-Golabi-Behmel syndrome

220 d R16H substitutions in rdxA correlated with phenotypic resistance (kappa coefficient, 0.76; 95% CI,

221 Phenotypic resistance correlated with the presence of al

222 Phenotypic resistance to amoxicillin in three isolates c

223 Phenotypic resistance was partly mediated by paradoxical

224 in vitro levels, suggesting a difference in phenotypic resistance, whereas no difference was found f

225 ty to identify those patients at the highest phenotypic risk for long QT syndrome (LQTS)-associated l

226 Phenotypic screening is an unbiased method to screen for

227 Phenotypic screening of the resulting oxazonine collecti

228 vulnerability to ototoxin in a high-content phenotypic screening system.

229 Here, we used phage display phenotypic screening to isolate antibodies that alter th

230 Specifically, we generate a "phenotypic series" by treating a nontransformed breast c

231 orming transcriptional profiling across this phenotypic series, the expression profile of every gene

232 Phenotypic severity varies by protein domain.

233 n of genotype, genetic modifiers, and XCI to phenotypic severity.

234 aleness in XX-rainbow trout, we recorded the phenotypic sex of 20,210 XX-rainbow trout from a French

235 Gene-specific phenotypic signatures included associations of SCN1A wit

236 This cellular atlas, combined with deep-phenotypic, spatial and functional analyses of synovial

237 We aimed to characterize the phenotypic spectrum and functional consequences associat

238 Our findings also expand the phenotypic spectrum associated with pathogenic PBX1 vari

239 A broad phenotypic spectrum has been described, with potentially

240 dent families; these variations cause a wide phenotypic spectrum of developmental anomalies affecting

241 rodevelopmental disease within the RASopathy phenotypic spectrum, reminiscent of Noonan syndrome in s

242 Cdc25, by combining genetic, cytological and phenotypic strategies.

243 BMP9/10 treatment induced an ALK1-dependent phenotypic switch from synthetic to contractile in pulmo

244 Thereafter, a phenotypic switch to oxidative metabolism with lipid uti

245 The role of SMC-derived Fn-EDA in SMC phenotypic switching or its implication in neointimal hy

246 We used this approach to screen for phenotypic targets of the essential mir-35-42 family.

247 1,174 isolates that were resistant by either phenotypic testing or sequencing, 78.6% (95% CI 76.1%-80

248 cal exam, (3) family history, (4) diagnostic phenotypic testing, and (5) variant correlation-through

249 conclude that genotypic testing outperformed phenotypic testing.

250 iggers an evolutionary process that drives a phenotypic trait beyond a tipping point, thereby resulti

251 Both phenotypic traits and environmental conditions are predi

252 Linking pH/pCO(2) natural variation to phenotypic traits and performance of foundational specie

253 periment then revealed that these changes in phenotypic traits constrain recovery of basic ecosystem

254 genetic variants associated with diseases or phenotypic traits in regulatory regions(1,7) is almost e

255 val methods are usually selective, modifying phenotypic traits in the managed populations.

256 tion studies (GWAS) that associate SNPs with phenotypic traits of interest.

257 ce of how removal-driven changes in multiple phenotypic traits of surviving individuals of invasive s

258 governing the biosynthesis of these crucial phenotypic traits that have greatly impacted insect beha

259 way to study the effect of gene variants on phenotypic traits, but the Cre/loxP and Tet-On/Tet-Off s

260 rkii induced substantial changes in multiple phenotypic traits.

261 y which variants can cause diseases or alter phenotypic traits.

262 use to understand the mechanism by which SMC phenotypic transitions affect lesion pathogenesis.

263 ver, the extrinsic signals supervising these phenotypic transitions remain elusive.

264 firing and provide evidence for inter-animal phenotypic variability among neurons of the same type.

265 -CM technologies have not been addressed: 1) phenotypic variability in apparently identical genotype

266 The phenotypic variability in WS likely involves epigenetic

267 /pattern dystrophies, but the origin of this phenotypic variability is unclear.

268 A considerable phenotypic variability was observed, with no clear genot

269 ciations of MC1R genetic risk categories and phenotypic variables and genetic ancestry.

270 contributions of different factors to total phenotypic variance are still unclear.

271 n be used both to estimate the proportion of phenotypic variance attributable to GxE effects and to t

272 , as well as stochastic elements, in diverse phenotypic variance is needed in population health scien

273 We find epistasis contributes to phenotypic variance widely.

274 0% (+/- 2.00%) and 15.00% (+/- 6.00%) of the phenotypic variance, the maternal environmental variance

275 f two loci resulted in a genetic effect upon phenotypic variance, while no genetic effect was detecte

276 riant) cells of P. polymyxa strain E681, its phenotypic variant, termed as F-type, fails to form spor

277 ariability in mammals, with implications for phenotypic variation and putative paradigms of mammalian

278 iversity to harness genetic, mechanistic and phenotypic variation associated with oil yield in a glob

279 While the phenotypic variation between breeds is high, within-bree

280 Xenorhabdus nematophila exhibits phenotypic variation between insect virulence (V) and th

281 The phenotypic variation could be prevented by altering the

282 studies demonstrate among- and within-hypha phenotypic variation for growth in response to gallic ac

283 Genetic sources of phenotypic variation have been a focus of plant studies

284 erlie natural, domesticated and experimental phenotypic variation in all Eukaryotes-mostly animals, p

285 e is known about the genetic architecture of phenotypic variation in these populations.

286 in STF target sequences, suggesting that the phenotypic variation of RBC traits could stem from alter

287 ity and which region is more responsible for phenotypic variation remains opaque.

288 nal changes also contribute to the heritable phenotypic variation required for evolution.

289 e and of oak interspecific and intraspecific phenotypic variation will improve our ability to sustain

290 The existence of both genetic and phenotypic variation within vegetative hyphae suggests t

291 issues that are associated with reproductive phenotypic variation, although the cause-effect relation

292 ants (SVs) are a major source of genetic and phenotypic variation, but remain challenging to accurate

293 to probe the genetic basis of metabolic and phenotypic variation, providing insight into the difficu

294 ation with the single largest contributor to phenotypic variation-genetic liability-has led to the ro

295 re also found to be strongly associated with phenotypic variation.

296 ually explained between 4.6 and 12.3% of the phenotypic variation.

297 formation within UTRs may also contribute to phenotypic variation.

298 ic-dependent selection in shaping functional phenotypic variation.

299 orkflow automatically handles assay-specific phenotypic variations and generalizes to different HT im

300 t genetic backgrounds that may contribute to phenotypic variations in immune responses.