ライフサイエンスコーパス: phenotype

1 ls; and others (total of 139 AMD and non-AMD phenotypes).

2 population, hence, is not linked to the ASD phenotype.

3 on of cells with a distinct agonist-selected phenotype.

4 uzumab, caused cells to regain an epithelial phenotype.

5 l) mice did not exhibit an overt spontaneous phenotype.

6 eneration and a dilated cardiomyopathy (DCM) phenotype.

7 uman macrophages toward a proinflammatory M1 phenotype.

8 s was significantly associated with each CHD phenotype.

9 and papilla and display an immature tubular phenotype.

10 l infarction (AMI), who represent an extreme phenotype.

11 ontrast, lamotrigine exacerbated the seizure phenotype.

12 hese features comprise a recognizable facial phenotype.

13 nstream MEK activity attenuated the fibrotic phenotype.

14 ne marrow into miR-155KO mice mitigated this phenotype.

15 s characterized by the NKG2A(-)KIR(+)CD57(+) phenotype.

16 ives rise to the varitint-waddler (Va) mouse phenotype.

17 endent and differ in their relationship with phenotype.

18 a myofibroblast-like, high matrix secreting phenotype.

19 elies on the preservation of a myoepithelial phenotype.

20 an EXOC5 mRNA completely reversed the mutant phenotype.

21 ays before cells manifest the differentiated phenotype.

22 hausted phenotype and macrophages with an M2 phenotype.

23 , donor, and transplant factors modulate the phenotype.

24 ; P = .01) were associated with a mole-prone phenotype.

25 nt mouse (Dclre1c(leaky)) that develops a LS phenotype.

26 in six additional individuals with a similar phenotype.

27 ical characteristics that resemble the human phenotype.

28 blockade of IL-1beta or NLRP3 abrogated this phenotype.

29 ationships were not affected by the clinical phenotype.

30 t rare and are associated with a more severe phenotype.

31 igher intrinsic risk for ASD than the female phenotype.

32 growth retardation and the in vitro cellular phenotype.

33 on of cells for a highly expressed molecular phenotype.

34 manipulate the genome, or select functional phenotypes.

35 f genes underlie visual and olfactory system phenotypes.

36 not down-stream enzymes suppressed DeltadacA phenotypes.

37 r protein Mena, contributes to prometastatic phenotypes.

38 tinct from dynein and dynactin mutant axonal phenotypes.

39 ritability in some hypomorphic OCA1 albinism phenotypes.

40 n synaptic function and related intermediate phenotypes.

41 scles of different contractile and metabolic phenotypes.

42 rly render mice with altered mood-associated phenotypes.

43 pression and appearance of cancer-associated phenotypes.

44 o homozygosity and testing for immune system phenotypes.

45 S, classic BS manifests with highly variable phenotypes.

46 ed by IFN-1, in perspective of the resulting phenotypes.

47 lling explanation for severe Hunter syndrome phenotypes.

48 contribute to complex behavioral and somatic phenotypes.

49 idered less likely to create disadvantageous phenotypes.

50 exhibited significantly worsened behavioral phenotypes.

51 of genetic variants associated with clinical phenotypes.

52 ning for inefficient seedling beta-oxidation phenotypes.

53 horts with different HIV disease progression phenotypes.

54 ell reversed the cocaine and depressive-like phenotypes.

55 s and corresponded with specific TB clinical phenotypes.

56 arely with skeletal muscle and elite athlete phenotypes.

57 viously implicated in various neural related phenotypes.

58 as downregulating PGRP-SC2 produced InR-like phenotypes.

59 th positive post-mortem examination results (phenotype 1); ii) positive reactors to the skin test reg

60 gardless of post-mortem examination results (phenotype 2) and iii) as in (ii) plus non-reactors and i

61 th positive post-mortem examination results (phenotype 3).

62 er adjustment for age, sex, country, and SCD phenotype, a low hemoglobin level was significantly asso

63 evelopmental environments shape inflammatory phenotypes across the life course.

64 lity of electronic health record (EHR)-based phenotypes allows for genome-wide association analyses i

65 better appreciation of its associated human phenotypes, an in-depth behavioral characterization of t

66 Nef genotype/phenotype analyses in a cohort of HIV-1 subtype C-infect

67 ment clinical and intracerebral inflammatory phenotype and 9-month survival of 764 adults with TBM.

68 hich is accompanied by a loss of mesenchymal phenotype and an increase in cell-cell adhesion.

69 soluble OX40 L and JAG1 were of suppressive phenotype and delayed the onset of diabetes in NOD mice.

70 py results in improvement in skeletal muscle phenotype and function and molecular perturbations of hy

71 d highlight SOX5 as a regulator of beta-cell phenotype and function.

72 wide alterations that are linked to dystonia phenotype and genotype.

73 aive T cell polarization toward a regulatory phenotype and impaired CD8(+) T cell allo-reactive respo

74 parasitism assay to determine its resistance phenotype and in a second experiment, a subset was chose

75 rare bleeding disorder with a heterogeneous phenotype and limited therapeutic options.

76 s: T cells with a regulatory or an exhausted phenotype and macrophages with an M2 phenotype.

77 nd produced heterogeneous cell subsets whose phenotype and migration were dependent ( approximately 3

78 s essential for conferring the tolerizing DC phenotype and optimal methods for their induction remain

79 nd relate composition to airway inflammatory phenotype and other phenotypic characteristics.

80 tion between RAAS inhibition-induced WRF, HF phenotype and outcome.

81 lasses are associated with a more aggressive phenotype and poor outcome of patients, although more sp

82 Sesn2-knockout hearts demonstrate a cardiac phenotype and response to ischemic stress that is simila

83 5 years) and frailty (modified Fried frailty phenotype and Rockwood frailty index).

84 n airway epithelial cells promote the asthma phenotype and that the proinflammatory pathway downstrea

85 Increased understanding of specific diabetes phenotypes and genotypes might result in more specific a

86 Interestingly, CLIPA14 RNAi phenotypes and its infection-induced cleavage were aboli

87 at cell-specific variants affect a number of phenotypes and pathologies.

88 th the microenvironment modulate cancer cell phenotypes and properties, and shape tumor architecture.

89 genome-wide association analyses of multiple phenotypes and two measures of phenotypic plasticity in

90 w the tumor environment influences metabolic phenotypes and whether macropinocytosis supports the mai

91 Among participants in the Clinical Phenotyping and Resource Biobank (C-PROBE) study and the

92 ates that exhibited a transmitted virus-like phenotype, and such viruses were also detected in the do

93 eutic response is related to tumor metabolic phenotype, and that altering tumor metabolism could chan

94 s two lethal parasites with distinct disease phenotypes, and identify 43 genetically diverse progeny

95 Robust phenotyping approaches sensitive to defects in the CTLA-

96 re applied to living systems, and changes in phenotype are observed, potentially leading to the ident

97 onal mechanisms that specify human microglia phenotypes are largely unknown.

98 MicroRNAs (miRNAs) loss-of-function phenotypes are mainly induced by chemically modified ant

99 approach that improves power when correlated phenotypes are measured on the same samples.

100 These phenotypes are rescued by re-expression of Ptprg only in

101 e-molecule co-localization of genotypes with phenotypes, are well suited for multiplexed single-molec

102 ivity in a gene promoter and impact cellular phenotype ascribes an epigenetic role to OG.

103 asure the association of CXCL5 and molecular phenotypes associated with coronary atherosclerosis seve

104 derlie many of the cognitive and behavioural phenotypes associated with fragile X syndrome.

105 iptional data, the sufD* strain had multiple phenotypes associated with impaired Fe-S protein maturat

106 enable discovery and dissection of multiple phenotype association signals through implementation of

107 ping analysis may be adopted for metabolites-phenotypes association analysis due to the similarity in

108 ate prognostic image biomarkers and genotype-phenotype associations.

109 , which is the fraction of variation in this phenotype attributable to viral genetic variation.

110 lymph nodes and display an inflammatory-like phenotype atypical of adipose resident ILC2.

111 n PD was associated with non-tremor dominant phenotype, autonomic dysfunction, depression, anxiety an

112 dy with a dimensional, PD/AG-related anxiety phenotype based on the Agoraphobia Cognition Questionnai

113 in independent samples with a dichotomous AG phenotype based on the Symptoms Checklist (SCL-90; N=384

114 uster trafficking and results in the disease phenotype, because there does not appear to be an altern

115 This phenotype can be rescued by simultaneous depletion of bo

116 Such emergent tissue-level phenotypes can be said to 'supervene upon' heterocellula

117 Here, we report that these seed phenotypes can be traced back to defective embryogenesis

118 ical models suggest that the biological male phenotype carries a higher intrinsic risk for ASD than t

119 Our findings broaden the scope of phenotypes caused by mutations in NFKB1 and suggest that

120 Filopodyan supports high-throughput phenotype characterization as well as detailed interacti

121 (Tbr1, Sp8), and neuronal/glial antigens for phenotype characterization.

122 al CD8(+) T cells acquired a more functional phenotype characterized by downregulation of the exhaust

123 Mutant mice developed a Bartter syndrome phenotype, characterized by renal salt loss, marked hypo

124 Phenotypes comprised de-regressed estimated breeding val

125 age human HF presents a characteristic novel phenotype consisting of sheet-like invaginations of the

126 at tan1 air9 double mutants have a synthetic phenotype consisting of short, twisted roots with disord

127 in all family members to establish genotype-phenotype cosegregation.

128 ndent interleukin-1beta release, though this phenotype could be suppressed by pharmacological neutral

129 ly, most sleep-amount, but not sleep-timing, phenotypes could be reproduced or rescued by knocking ou

130 We apply a combination of Biolog phenotype data and fitness data to validate and refine o

131 tional studies, developing reference variant-phenotype databases, adopting phenotype description stan

132 erence variant-phenotype databases, adopting phenotype description standards, and promoting data shar

133 y are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, m

134 s system to characterize NOD2 and cell death phenotypes driven by XIAP.

135 ildren underwent singleton WES with targeted phenotype-driven analysis.

136 al growth rate or loss of the reddish colony phenotype due to mutations in the targeted region could

137 n cancer targeting: heterogeneity, change in phenotype during disease progression, and resistance.

138 have the ability to switch their functional phenotypes during inflammation and recovery.

139 show that GBA-dependent signaling modulates phenotypes during Xenopus laevis embryonic development.

140 The severe phenotype emerged as a latent condition with signs of a

141 rtex (PFC) as compared to ANAs while the two phenotypes expressed similar levels of GluN1, GluN2A and

142 DC-RAs displayed a mature yet tolerogenic phenotype, expressing IL-10, TGF-beta, IL-27, and aldehy

143 S) apparatus have a rapid and potent killing phenotype following microinjection into an insect host.

144 leles, and we confirmed the hypo-competition phenotype for four of these alleles.

145 Kgamma(-/-) mice and control db/db mice were phenotyped for glucose homeostasis, insulin sensitivity,

146 Modeling of phenotypes for multilocus genotype classes in the epista

147 participants (discovery cohort) had detailed phenotyping for AMD; other eye conditions; cardiovascula

148 ytic core of PRC2, strongly enhanced the clf phenotype; furthermore, H3K27me3 coverage at target gene

149 of SERT knockout rats was a summation of the phenotypes generated by MRN- and DRN-specific SERT knock

150 ion or consolidation), MRD detection method, phenotype/genotype (B cell, T cell, Philadelphia chromos

151 To study phenotype/genotype correlations, we performed genetic an

152 nd zygotically are viable and fertile and no phenotype has so far been detected despite strong evolut

153 Th1 cells (nTh17 and nTh1) with innate-like phenotype have been identified in the thymus that are di

154 gene expression and cellular and behavioural phenotypes have been impeded by a lack of experimental t

155 le for the Hcy-dependent worsening of the AD phenotype in a relevant mouse model of the disease.

156 icine, bridging the gap between genotype and phenotype in an in vivo setting.

157 mutation is an important determinant of the phenotype in classic BS.

158 d the hypercalciuric and lower serum calcium phenotype in Ksp-cre;Pth1r(fl/fl) mice, emphasizing the

159 macrophages display a prolonged inflammatory phenotype in late wound healing.

160 Here we described and analyzed a similar phenotype in POMT mutant embryos that shows left-handed

161 S can be used to promote a more chondrogenic phenotype in the absence of growth factors, potentially

162 he questions remained (a) whether the plaque phenotype in transplanted mice resulted from a genuine e

163 n markedly accelerates all of these cellular phenotypes in a dose- and age-dependent manner in cortex

164 in-1A and investigated schizophrenia-related phenotypes in both males and females.

165 al regulation promoting cancer cell invasive phenotypes in lung adenocarcinoma, lung squamous cell ca

166 context, implying that some of the emerging phenotypes in RASopathies may be caused by increased, as

167 e variants have been associated with obesity phenotypes in sedentary and obese populations, but rarel

168 , SPHK1, and YAP/TAZ in mediating metastatic phenotypes in vitro and in vivo Notably, pharmacologic t

169 hanistic interpretations of cardiopharyngeal phenotypes in zebrafish models of human congenital disor

170 stem/progenitor cells (Lin-/Sca+/c-Kit+; LSK phenotype) in the AT (AT-LSK) has been reported.

171 on of SLP-2 transgenes rescued parkin mutant phenotypes, in particular loss of dopaminergic neurons,

172 ly contributed to the augmented care-induced phenotype, including diminished depression-like and anxi

173 ese data reveal heterogeneity in cancer cell phenotypes, including angiogenesis, proliferation, and s

174 and C, typically cause age-dependent cardiac phenotypes, including dilated cardiomyopathy, cardiac co

175 ists have improved both brain and behavioral phenotypes, including social behavior.

176 e susceptibility to other immunopathological phenotypes, including survival after infection with coxs

177 age-dependent variations in cuticular drusen phenotypes, including the occurrence of retinal pigment

178 to dissect and stratify the complex clinical phenotype into more homogeneous subgroups based on the e

179 The protective phenotype involved the clustering of macrophages around

180 The mutant phenotype is also temperature-sensitive.

181 DRPLA), progressive acquirement of an ataxic phenotype is linked to severe cerebellar cellular pathol

182 This cancer-like phenotype is promoted by increased cytosolic calcium ([C

183 Maintenance of the Bully phenotype is temperature dependent during development, w

184 ciation of the expected copy number with the phenotype is tested.

185 cting quantitative trait loci (QTL) with HTP phenotyping is as accurate and effective as traditional

186 Phenotyping is important to understand plant biology, bu

187 factors are reflected in different metabolic phenotypes, is also discussed.

188 This phenotype, known as T cell exhaustion, occurs during chr

189 onal hyperdopaminergia and neurodegenerative phenotype leading to premature death in 36% of the popu

190 ground, Pml(-/-) animals display a longevity phenotype, likely reflecting decreased basal p53 activat

191 hybrid mimic lines, whereas in the F6 small phenotype line, the 12 segments were each derived from t

192 ally predicted triglycerides with two ageing phenotypes - longevity ( >/=95 years) and frailty (modif

193 ature dependent during development, with the phenotype lost when flies are reared at 19 degrees C.

194 LC-MS-based metabolic phenotyping (metabotyping) in urine samples confirmed th

195 However, few cell wall phenotyping methodologies have proven sufficiently preci

196 Using Biolog phenotype microarrays and comparative metabolite profili

197 PD symptoms as they only exhibit mild motor phenotypes, minor dopamine metabolism abnormalities, and

198 Interpretation of the LOF phenotype must take into account the biological process

199 tomatic mutation carriers (genotype positive/phenotype negative), 10 patients with hypertrophic obstr

200 e classified as phenotype-positive (n=72) or phenotype-negative (n=102).

201 osed with HCM after family screening, 74 FG+/phenotype-negative relatives, and 9 with noncompaction o

202 Contrary to theoretical predictions, and to phenotypes observed in eudicot leaves, the increase in s

203 The metabolic phenotype of a cancer cell is determined by its genetic

204 tions of the beta-catenin pathway change the phenotype of a common nevus with BRAF mutation into that

205 summative model wherein the P-body assembly phenotype of a given mutant can be predicted from the nu

206 ronic daily consumption of canola oil on the phenotype of a mouse model of AD that develops both plaq

207 We used the dystrophic cardiac calcification phenotype of Abcc6(-/-) mice as an indicator of ABCC6 fu

208 The weeping inflorescence phenotype of atlazy1,2,4 mutants may be due at least in

209 Such networks establish a new formal phenotype of cancer which captures the cell-cell communi

210 rated by an animal model that replicates the phenotype of human CTEPH.

211 with palate (NSCLP) is the most serious sub-phenotype of non-syndromic orofacial clefts (NSOFC), whi

212 The phenotype of SERT knockout rats was a summation of the p

213 Although the ALS-like phenotype of SOD1(G93A) mice is instigated by expression

214 s its expression can rescue the Mn-sensitive phenotype of the Arabidopsis mtp11-3 knockout mutant.

215 identified records) show that the behavioral phenotype of the ClockDelta19 mouse is characterized by

216 ion of the mutant SOD1, we show the improved phenotype of the Cu(II)(atsm)-treated animals involves a

217 ism and cell signaling, and thus reflect the phenotype of the tissue environment, making these molecu

218 lity of ANKZF1 R585Q and E152K to rescue the phenotype of yeast deficient in Vms1, the yeast homologu

219 ies of tumor cells, also inhibit endothelial phenotypes of breast cancer cells adopted in response to

220 A comparative analysis of the molecular phenotypes of CA-MPK3 and mpk4 autoimmunity suggested co

221 heir differentiation, we found hematopoietic phenotypes of graded severity and/or stage specificity t

222 with designer single-molecule conformational phenotypes of interest.

223 8 and rescued the tumor growth and migratory phenotypes of ovarian cancer cells expressing SHMT1 shRN

224 cine responses as a tool to characterize the phenotypes of patients exhibiting various syndromes.

225 We characterized the metabolic phenotypes of PHD2-deficient RAW cells and primary PHD2

226 750 protein uniquely inhibited the malignant phenotypes of SCC cells both in vitro and in vivo.

227 The disparate phenotypes of these pex alleles may reflect unanticipate

228 Metabolic phenotyping of Foxp3-expressing IL-17A(+), ex-Th17 and i

229 utomated image analysis can be used for fast phenotyping of functionally diverse cell populations wit

230 the HIV(RNA/Gag) assay also allows parallel phenotyping of viral reservoirs, including reactivated l

231 port that RAC1(P29S) evokes a Rasopathy-like phenotype on zebrafish development that can be blocked b

232 nversion of melanocytes to a metastatic-like phenotype only previously observed in an all-or-none man

233 To phenotype OT-receptor (OTR) expressing neurons originati

234 al hyperandrogenism alone showed a metabolic phenotype (p < 0.05) and insulin resistance (p < 0.001).

235 bcutaneous adipose tissue of 770 extensively phenotyped participants of the METSIM study.

236 hat seen in patients with other inflammatory phenotypes, particularly eosinophilic asthma.

237 d a case-control sample with the categorical phenotype PD/AG (Ncombined =1012) obtaining highly signi

238 A machine learning (ML)-enabled image-phenotyping pipeline for the genetic studies of abiotic

239 Patients were classified as phenotype-positive (n=72) or phenotype-negative (n=102).

240 highlight the heterogeneity of CD8(+) T-cell phenotypes present in chronically inflamed tissue.

241 functional impairment in DS, and that these phenotypes, present in male and female mice, provide nov

242 The clinical phenotype ranges from the classical presentation of a co

243 vely activated (CD11b(+), CCR7(-), F4/80(+)) phenotype, reduced the expression of inflammatory genes

244 ssays indicate that these distinct metabolic phenotypes reflect the divergence of UGT89A2 enzyme prop

245 Interventions to correct these phenotypes restore sensitivity to the mTORC1 signaling p

246 ed the use of Drosophila to evaluate cardiac phenotypes resulting from specific, patient-derived alle

247 t that the previously reported severe visual phenotype seen in syndromic USH2A patients could relate

248 he ubiquity of pleiotropy, i.e. many complex phenotypes sharing common genetic bases.

249 to a joint analysis of GWAS datasets for 12 phenotypes shows that graph-GPA improves statistical pow

250 The time course of adaptation and when 'phenotype specificity' occurs has important implications

251 study describes a retinal dystrophy-related phenotype spectrum as well as its genetic etiology and h

252 al alcohol misuse scales and applied a proxy-phenotype study design.

253 ents are associated with physiological macro-phenotypes such as fatigue, providing a strong associati

254 e progression, suppressing aggressive growth phenotypes, such as cell invasion, migration, and xenogr

255 tions in the rates of chromosome instability phenotypes, such that when telomeres shortened, chromoso

256 ouse brain mimicked a Notch gain-of-function phenotype, suggesting that Myt1l allows newborn neurons

257 nction of MKK4/MKK5 also results in the same phenotypes, suggesting that MKK4/MKK5 might act upstream

258 phosphate pathway, have a more severe growth phenotype than cells lacking zwf1 We propose that in S.

259 ed to normal morphology, revealing a cryptic phenotype that is not apparent unless the animals are cu

260 During ageing, microglia acquire a phenotype that may negatively affect brain function.

261 utations may drive different metabolic tumor phenotypes that are captured in PET images, whereas KRAS

262 the impact of such cross-talk on tumor cell phenotypes that are critical for cancer initiation and p

263 mations can be manifested as combinations of phenotypes that co-occur more often than expected by cha

264 Asthma encompasses a variety of clinical phenotypes that involve distinct T cell-driven inflammat

265 in gives rise to distinct photophysiological phenotypes that may affect Synechococcus distributions i

266 struction in children and define obstruction phenotypes that relate to asthma instability.

267 Linguistic and cognitive phenotypes that were highly associated with FX premutati

268 imaging with late gadolinium enhancement in phenotyping the left ventricular to identify those at hi

269 Zebrafish pontin mutants display phenotypes tightly associated with cilia defects, and ci

270 ) mouse model with a consistent cleft palate phenotype to test small-molecule Wnt agonist therapies.

271 e-feedback loop that links the myofibroblast phenotype to TGFbeta1-stimulated CD44V6/ERK/EGR1 signali

272 employed for both in vitro and in vivo tumor phenotyping to identify the tumorigenicity of the CCSCs.

273 ferentiated human counterparts using defined phenotyping, to make sure the cells are relevant and com

274 Robustness in biology is the stability of phenotype under diverse genetic and/or environmental per

275 f cancer-associated alterations of molecular phenotype using radionuclide imaging is a noninvasive ap

276 present a method for prediction of clinical phenotypes using baseline genome-wide expression data th

277 enome-wide association studies from multiple phenotypes using conditional false discovery rate analys

278 performed by correlating the 52 SNPs to all phenotypes using logistic and linear regression models.

279 eby generating varieties with both high mean phenotype values and levels of plasticity that are appro

280 ross all traits the candidate genes for mean phenotype values and plasticity measures form structural

281 e able to select semi-independently for mean phenotype values and plasticity, thereby generating vari

282 l genomic variation accounted for 63% of the phenotype variation, whereas the host traits considered

283 Information on the apolipoprotein E (Apo-E) phenotype was available for 1259 men.

284 This phenotype was distinct from the Golgi fragmentation obse

285 This phenotype was not observed in Ig-treated Rag1(-/-) mice

286 The late phenotype was only positively associated with allergic r

287 -ancestry GWAS meta-analysis for any smoking phenotype, we reconfirmed the well-known CHRNA5-CHRNA3-C

288 of structural variants and their effects on phenotypes, we developed an approach to mapping structur

289 adhered, proliferated, and maintained their phenotype well on the material.

290 Malignant progression phenotypes were also affected at the level of epithelial

291 When both chemical features and clinical phenotypes were available, combining the two types of fe

292 However, the specific phenotypes were different.

293 s to IE surface antigens expressing virulent phenotypes were much better maintained (half-life, 4-10

294 evated reactive oxygen species, whereas such phenotypes were reversed by its product lactate or antio

295 ssess a coordinated functional and molecular phenotype which can be targeted for therapy.

296 lveolar bone and PDL damage of the knockdown phenotype, which are thus shown to be partially secondar

297 break the causal chain between these complex phenotypes, which could inform and prevent disordered ea

298 between pregestational diabetes and each CHD phenotype with previous estimates.

299 S100A4 produces two mechanistically distinct phenotypes with regard to macrophage invasion: a defect

300 ally penetrant embryonic or perinatal lethal phenotype, with the production of an aberrant proliferat