ライフサイエンスコーパス: disease phenotype

1 able degree of specificity in terms of human disease phenotype.

2 , modifiable exposures, and manifestation of disease phenotype.

3 c data and explore their associations with a disease phenotype.

4 genes having no currently established human disease phenotype.

5 geted therapy to precisely correct a complex disease phenotype.

6 s as a potential novel target to reverse the disease phenotype.

7 ion, the force-time integral, which predicts disease phenotype.

8 leles recapitulates the stochastic bi-stable disease phenotype.

9 sulting in anomalous autophagic activity and disease phenotype.

10 aling in infiltrating myeloid cells dictates disease phenotype.

11 will thus vary according to the predominant disease phenotype.

12 dermal junction (DEJ), and reversed the RDEB disease phenotype.

13 pendence and white matter involvement of the disease phenotype.

14 Levels were correlated with disease phenotype.

15 ways and its relationship to the dynamics of disease phenotype.

16 the aggregated prion protein properties and disease phenotype.

17 stitutional differences in MYB expression to disease phenotype.

18 LAS2) has been shown to adversely modify the disease phenotype.

19 ependence and tissue specificity of the ADLD disease phenotype.

20 most probably be required to generate such a disease phenotype.

21 t studies used only one data source of human disease phenotype.

22 unctional promoter polymorphism F12-46C/T in disease phenotype.

23 ted in the modification of gene function and disease phenotype.

24 les for misexpression of Igf2 and H19 in the disease phenotype.

25 onal pathway from GWAS-associated variant to disease phenotype.

26 e contribution of various immune axes to the disease phenotype.

27 es cellular protein folding and improves the disease phenotype.

28 tion variation across brain regions reflects disease phenotype.

29 ge that may be associated with the change in disease phenotype.

30 convergent changes toward a more aggressive disease phenotype.

31 ifiers are required for manifestation of the disease phenotype.

32 whereas loss of TPO only mildly affects the disease phenotype.

33 ith defective DNA replication underlying the disease phenotype.

34 ategy involving small molecule modulation of disease phenotype.

35 e, and function and contribute to an altered disease phenotype.

36 e common occurrence signaled the Alzheimer's disease phenotype.

37 thms, which assume frequent alterations in a disease phenotype.

38 ng, which is potentially linked to the adult disease phenotype.

39 frequently associated with a severe Crohn's disease phenotype.

40 sity and are associated with highly variable disease phenotypes.

41 Asthma is a complex syndrome with different disease phenotypes.

42 ectin are responsible for aspects of CADASIL disease phenotypes.

43 iency and Slurp1 deficiencies cause the same disease phenotypes.

44 ations may cause a spectrum of mitochondrial disease phenotypes.

45 the folding reaction helps to explain their disease phenotypes.

46 belong to the same pathway and cause similar disease phenotypes.

47 protein products, thus potentially inducing disease phenotypes.

48 al properties that could contribute to their disease phenotypes.

49 rug combinations that modulate complex human disease phenotypes.

50 for cellular functions and associations with disease phenotypes.

51 y distinct from classical inflammatory bowel disease phenotypes.

52 lated strains that are divergent for several disease phenotypes.

53 Slurp2X(-/-) mice exhibited the same disease phenotypes.

54 different Crx mutations show a wide range of disease phenotypes.

55 lecular mechanism by which cells can acquire disease phenotypes.

56 n stages and/or from patients with different disease phenotypes.

57 tive of one molecular event causing distinct disease phenotypes.

58 nd potentially rescue genetically determined disease phenotypes.

59 te into a model explaining the various human disease phenotypes.

60 association of 4 loci with different Crohn's disease phenotypes.

61 lung function, leading to severity in airway disease phenotypes.

62 in the pathogenesis of distinct Alzheimer's disease phenotypes.

63 nteraction profiles often result in distinct disease phenotypes.

64 to the large variability in PRPH2-associated disease phenotypes.

65 y linked to DNA, such as gene expression and disease phenotypes.

66 ies and challenges for triggering late-onset disease phenotypes.

67 of ESCs and iPSCs to recapitulate and study disease phenotypes.

68 ng extracellular oligomers can mildly modify disease phenotypes.

69 curring SNP in bacteria contributes to human disease phenotypes.

70 ht to mediate cellular functions relevant to disease phenotypes.

71 del these personalized variations in hepatic disease phenotypes.

72 vage system activity and causes two distinct disease phenotypes.

73 lations allow for more subtle exploration of disease phenotypes.

74 3(K111A)-3xFLAG was unable to rescue pbl13-2 disease phenotypes.

75 the genes and regulatory pathways underlying disease phenotypes.

76 lr4 genotype, and Th2 polarization influence disease phenotypes.

77 SH3TC2 as a candidate modifier locus of CMT disease phenotypes.

78 ntal factors is central for understanding of disease phenotypes.

79 and that lipid peroxidation mediates diverse disease phenotypes.

80 rected at understanding the genetic basis of disease phenotypes.

81 specific properties may distinctly influence disease phenotypes.

82 n the pathogenesis of these two chronic lung disease phenotypes.

83 exin 9 (PCSK9) gene that was associated with disease phenotypes.

84 sequences from individuals with healthy and disease phenotypes.

85 eta (Abeta) sequence lead to a wide range of disease phenotypes.

86 that directly or indirectly lead to distinct disease phenotypes.

87 ELS when applied after the manifestation of disease phenotypes.

88 d to new locales, and the discovery of novel disease phenotypes.

89 der range of cross-sectional diabetic kidney disease phenotypes.

90 ividual human genomes and has been linked to disease phenotypes.

91 nk between genes, non-coding transcripts and disease phenotypes.

92 ion flow profiles, which drive the resulting disease phenotypes.

93 cted to influence the severity of the ocular disease phenotypes.

94 linked altered profiles of methyl marks with disease phenotypes.

95 y to neural cells could instead underlie the diseased phenotype.

96 , each including samples of diseased and non-diseased phenotypes.

97 ified lipids, and convert to foam cells with diseased phenotypes.

98 To investigate the role of BH4 deficiency in disease phenotypes, 12-month-old Fabry mice were treated

99 Distinct disease phenotypes affect different organ systems, where

100 ue-specific epithelial physiology, including disease phenotypes after genome editing.

101 Their potentially wide-ranging influence on disease phenotype also suggests that proteopathic strain

102 To identify mutation patterns that affect disease phenotype and clinical outcome, we performed a c

103 to explore the role of somatic mutations in disease phenotype and clinical outcome.

104 hiPSCs cardiomyocytes to recapitulate CPVT2 disease phenotype and drug response in the culture dish,

105 The observed mutations segregated with the disease phenotype and exhibited variable expressivity.

106 cterial populations correlate with the pouch disease phenotype and inflammatory activity.

107 specific tissues and can subsequently modify disease phenotype and influence survival.

108 mut virus likely accounts for the attenuated disease phenotype and may represent a host-virus adaptat

109 hageal physiology, to better determine their disease phenotype and optimize treatment.

110 ing multiple different data sources of human disease phenotype and predicting disease-associated gene

111 inical challenge of patient heterogeneity in disease phenotype and response to treatment should in pa

112 NF-kappaB subunit RelA, segregated with the disease phenotype and resulted in RelA haploinsufficienc

113 idermal alterations that form the pathogenic disease phenotype and to correlate changes with clinical

114 This variant strictly cosegregated with the disease phenotype and was absent in online single-nucleo

115 contributes to understanding of the range of disease phenotypes and disease genes associated with def

116 Connections between disease phenotypes and drug effects can be made by ident

117 center of the Abeta sequence cause different disease phenotypes and fibrillization properties.

118 We studied distinct human disease phenotypes and found that, at the gene, gene iso

119 h olivocerebellar dysfunction promotes motor disease phenotypes and identify the cerebellar nuclei as

120 ergy would be particularly useful to specify disease phenotypes and individual care in future.

121 ith influenza virus display mild-to-moderate disease phenotypes and recover within a few weeks.

122 s to expand with the recognition of variable disease phenotypes and targets of the immune system.

123 issible prion diseases exhibit a spectrum of disease phenotypes and the basis of this diversity is en

124 ructure reveals the basis for von Willebrand disease phenotypes and the fold and disulfide linkages f

125 lar sequelae that ultimately lead to diverse disease phenotypes and treatment responses across indivi

126 nsin alpha 1-3) showed association with both disease phenotypes and were associated with periodontiti

127 in expression, differential gene expression, disease phenotype), and molecular data types (e.g. Gene

128 Evolving treatments, disease phenotypes, and biology, together with a changin

129 lly cross two lethal parasites with distinct disease phenotypes, and identify 43 genetically diverse

130 tive analysis of normal cardiac contraction, disease phenotypes, and pharmacological responses.

131 y.org) project are the phenotype vocabulary, disease-phenotype annotations and the algorithms that op

132 in recent years using systems approaches for disease phenotyping, applied to data ranging from the mo

133 melanocyte redox homeostasis to the complex disease phenotype are not fully understood.

134 different organ systems, whereas overlapping disease phenotypes are more likely to be caused by two g

135 nses and develop autoimmune pathology, these disease phenotypes are not driven by miR-27 in effector

136 These disease phenotypes are rescued by spontaneous dosage cor

137 es and their products is challenging because diseased phenotypes are likely dependent of complex mole

138 on biological features, MPNs display diverse disease phenotypes as a result of both constitutional an

139 assessed its influence on other small vessel disease phenotypes, as well as on messenger RNA (mRNA) e

140 Additionally, GESPA also predicts the disease phenotype associated with a nsSNP with high accu

141 may contribute to the specific neuromuscular disease phenotype associated with SMA.

142 Human disease phenotypes associated with haploinsufficient gen

143 ab1 and vac14 mutants and suggest that human disease phenotypes associated with PI(3,5)P2 loss may ar

144 ing processes for detecting and categorizing disease phenotypes at the point of care, thus reducing u

145 tream cluster trafficking and results in the disease phenotype, because there does not appear to be a

146 The leading hypothesis for the difference in disease phenotype between HIV-1 and HIV-2 is that more e

147 uency may indicate underlying differences in disease phenotype between patients and predict ultimate

148 for individuals presenting with established disease phenotypes but also for those with previously un

149 There is no associated disease phenotype, but alpha-actinin-3 deficiency is det

150 ns between common genetic variants and human disease phenotypes, but the majority of these variants a

151 yonic fibroblasts (MEFs) resembled the human disease phenotype by showing multiple defects in oxidati

152 into how genetic variation can affect human disease phenotypes by coordinated changes in chromatin a

153 ex and the age of the animals studied affect disease phenotypes by modifying their susceptibility, pr

154 d us to control the onset and progression of disease phenotypes by the modulation of Fxn levels.

155 ions, but the mechanisms leading to specific disease phenotypes can be investigated using strains of

156 Understanding the socioeconomic patterns of disease phenotypes can help distinguish which exposures

157 onclusion NOTCH1 mutations define a distinct disease phenotype characterized by solid histology, live

158 ansgenic mice show significantly improved HD disease phenotypes compared with F1 offspring from vehic

159 The disease phenotype comprises characteristic circumferenti

160 Surprisingly, rather than alleviating the disease phenotype, constitutive dephosphorylation of Ser

161 dress the general problem of identifying the disease-phenotype contributing genes from a large number

162 gene expression, often leading to inadequate disease phenotype correction.

163 The severity of the disease phenotypes corresponds to the copy number of act

164 ALS, and suggest that sex differences in the disease phenotype could be linked to differential activa

165 Moreover, we showed that the attenuated disease phenotype could be recapitulated with a single a

166 We hypothesize that a more severe disease phenotype could be the result of 1) an earlier o

167 rated that a novel strategy combining unique disease phenotype data with system approaches can lead t

168 analyze genetic variants against UK Biobank disease phenotypes derived from self-reporting and hospi

169 rt provides additional evidence for distinct disease phenotypes, determined by the presence of cSAH a

170 ynamics were correlated with the dynamics of disease phenotypes during the development of heart failu

171 ess have a significant effect on the overall disease phenotype, enhancing mean survival in severely a

172 Imputing missing disease phenotypes for patients via co-training leads to

173 nd metabolomics, with a comprehensive set of disease phenotypes from 510 participants of the TwinsUK

174 Predicting disease phenotypes from genotypes is a key challenge in

175 processes.Identifying gene subsets affecting disease phenotypes from transcriptome data is challenge.

176 es mGluR1, that are associated with distinct disease phenotypes: gain-of-function missense mutations,

177 Consistent with the disease phenotype, gingival tissues showed significantly

178 we present an approach for imputing missing disease phenotypes given the genotype of a patient.

179 r to surgery, and myoclonic versus torsional disease phenotype had no significant effect on outcome.

180 The description of this rare Alzheimer's disease phenotype has been limited to case reports and s

181 The CHH disease phenotype has some overlap with dyskeratosis con

182 fying miRNA target sites, and multiple human disease phenotypes have been linked to such miRNA target

183 rcomeric proteins cause two reciprocal human disease phenotypes, hypertrophic or dilated cardiomyopat

184 rain-dependent host responses and diverse RV disease phenotypes.IMPORTANCE Genetic variation among hu

185 evisiae antibody levels and clinical Crohn's disease phenotype in 69 Crohn's disease patients and 30

186 d show that it can lead to the rescue of the disease phenotype in a C. elegans model of Parkinson's d

187 ase2 was also able to rescue the Alzheimer's disease phenotype in a mouse model of the disease.

188 mFc treatment produces a mild benefit to the disease phenotype in Acta1 H40Y mice.

189 mission of the Gardos channel mutations with disease phenotype in affected individuals.

190 view highlights parasite factors involved in disease phenotype in all three trypanosomatid diseases,

191 iorating both neuropathological features and disease phenotype in BACHD mice, and taken together with

192 SB216763, a small molecule that rescues the disease phenotype in cardiac myocytes.

193 murine and human atherosclerosis, the common disease phenotype in clinical care.

194 NGR1 or IFNGR2) result in a life-threatening disease phenotype in early childhood.

195 pharmacological data and measures of cardiac disease phenotype in experimental cell, animal, and huma

196 to provide insight into what determines the disease phenotype in FH-R1210C carriers, we identified F

197 improving MN survival, and ameliorating the disease phenotype in hSOD1(G93A) mice.

198 Here, we report retinal thinning as an early disease phenotype in humans with GRN mutations that prec

199 se have been described in association with a disease phenotype in humans.

200 oxen derivative, on the skeletal and cardiac disease phenotype in mdx mice.

201 B) is associated with an active inflammatory disease phenotype in PPMS patients.

202 The disease phenotype in some cases may be caused by simple

203 lar alterations in macrophage activation and disease phenotype in the Citrobacter rodentium model of

204 The mutation fully segregated with the disease phenotype in the family.

205 ted RyR2s accounts for the prevalence of the disease phenotype in the heterozygous S2808A CCM mice.

206 hown to significantly improve aspects of the disease phenotype in the mdx mouse; therefore, utrophin

207 ivation of autophagy ameliorated the cardiac disease phenotype in this mouse model.

208 Conversely, normal glia can ameliorate disease phenotype in transgenic HD mice, as striatal tra

209 sing a codon-optimized PLN gene reverses the disease phenotype in vitro.

210 y kidney cells and significantly rescued the disease phenotype in vivo.

211 f renal ciliogenesis and a polycystic kidney disease phenotype in zebrafish and mice.

212 epigenetic mechanisms, to have an impact on disease phenotypes in a beneficial manner.

213 vs. intronless cDNA in ameliorating retinal disease phenotypes in a rhodopsin knockout (RKO) mouse m

214 association between early antibiotic use and disease phenotypes in adulthood.

215 his result has implications for interpreting disease phenotypes in animal models and humans.

216 pathogenesis, and management should evaluate disease phenotypes in children and follow these over the

217 D-mediated T-cell apoptosis and ameliorating disease phenotypes in dextran sodium sulfate-induced col

218 ifying causal rare variants of complex human disease phenotypes in genetic association studies.

219 ticity and may contribute to Oma1-associated disease phenotypes in humans.

220 s (TALENs) ameliorates the R14del-associated disease phenotypes in iPSC-CMs.

221 and defects in their function may result in disease phenotypes in mammals.

222 depletion, we find that NKX2-5 levels modify disease phenotypes in mice with RNA toxicity.

223 diversity within CC mice results in variable disease phenotypes in response to TMEV.

224 tar keratoderma and to be confident that the disease phenotypes in Slurp2(-/-) mice were not secondar

225 o reveal previously unknown aspects of human disease phenotypes in vitro.

226 may correlate with variations in Alzheimer's disease phenotype, in analogy to distinct prion strains

227 Disease phenotypes included asthma, atopy, wheezing, alt

228 symptomatic airflow obstruction identifies 5 disease phenotypes, including asthma-COPD overlap and ob

229 ance, and deregulation can lead to a host of disease phenotypes, including developmental disorders an

230 Affected patients show multiple disease phenotypes, including dilated cardiomyopathy, ex

231 various infection stages and with different disease phenotypes, including elite controllers, who spo

232 erative disease MJD, and identified relevant disease phenotypes, including impaired movement from an

233 to be sufficient to transfer some aspects of disease phenotypes, indicating that altered microbiota i

234 its readily available animal model and human disease phenotype information.

235 ac function by 28 weeks, suggesting that the disease phenotype is more severe than in B10-mdx mice.

236 ibution of genetic and epigenetic factors to disease phenotypes is a major challenge in human genetic

237 An alternative method to examine disease phenotypes is to use pre-defined biological path

238 he mutated Asp residue, which determines the disease phenotype, is conserved in all eukaryotic member

239 sociated with many autoimmune and infectious disease phenotypes, is an important element of the immun

240 ack of mouse/human models recapitulating the disease phenotype/latency.

241 -onset type 2 diabetes has a more aggressive disease phenotype, leading to premature development of c

242 as been severely hampered by a heterogeneous disease phenotype, limiting the interpretation of clinic

243 rstanding how host pathways can modify prion disease phenotypes may provide clues on how to alter pri

244 data under a variety of genetic variant and disease phenotype models.

245 An SMA mouse model that recapitulates the disease phenotype observed in adolescent and adult SMA p

246 t the experimental CF drug VX809 rescues the disease phenotype of CF cholangiopathy in vitro.

247 ed into human fibroblasts, and corrected the disease phenotype of mucopolysaccharidosis patient fibro

248 er) program to predict the pathogenicity and disease phenotype of nsSNPs.

249 iHeps model the individual disease phenotypes of ATD patients with more rapid degra

250 und II treatment also ameliorated autoimmune disease phenotypes of Trex1(-/-) mice, increased mouse s

251 mentia' and most common atypical Alzheimer's disease phenotype, offering insights into mechanisms und

252 ups are representative of the rapid and slow disease phenotypes often experienced in ALS.

253 None of the early life variables influenced disease phenotype or outcome in UC.

254 The mutation co-segregated with the disease phenotype over four generations.

255 ave mutable mosaic genomes that can modulate disease phenotype over time.

256 ecade, revealing significant improvements on disease phenotyping over current computational approache

257 markers with strong associations to Crohn's disease phenotypes (P < 2 x 10(-4)) were subsequently an

258 the various CLL mouse models with regard to disease phenotype, penetrance, and severity.

259 me, and how they correlate with host health, disease, phenotype, physiology and ecology.

260 ale phenotyping has become the bottleneck in disease phenotype prediction.

261 strate that BRD5631 affects several cellular disease phenotypes previously linked to autophagy, inclu

262 s between UMOD and MUC1 regarding associated disease phenotype, protein structure, and function as a

263 tein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe sy

264 e lack of large-scale machine understandable disease phenotype relationship knowledge bases.

265 en to study bacteria strain genotype-patient disease phenotype relationships.

266 mechanisms through which these genes affect disease phenotypes remains a major challenge.

267 in recombinants with a wide range of ocular disease phenotype severity.

268 ound healing, and how activin A could elicit disease phenotypes such as cancer-related muscle wasting

269 te, however, did not reverse any ALS-related disease phenotypes such as motor dysfunction or decrease

270 biological function, tissue expression, and disease phenotype than protein pairs interacting with th

271 ut mice displayed a dramatically more severe disease phenotype than wild-type mice after intranasal i

272 tudy (GWAS; n = 360,838) of a broad allergic disease phenotype that considers the presence of any one

273 vironmental factors that combine to create a disease phenotype that is typically not apparent until l

274 eficits in typical and posterior Alzheimer's disease phenotypes that are related to posterior cortica

275 In the present study, we identified disease phenotypes that are susceptible to socioeconomic

276 While TLR4 is associated with these disease phenotypes, the role of this receptor in respira

277 telomere deficiency is implicated in the CHH disease phenotype through an as yet unidentified mechani

278 utated BRAF is associated with an aggressive disease phenotype, thus making it a top candidate for ta

279 analysis of annotations pertaining to genes, diseases, phenotypes, tissues and pathways.

280 Here we show that mHTT glia can impart disease phenotype to normal mice, since mice engrafted i

281 of adopting a multipronged approach to plant disease phenotyping to more fully understand the roles o

282 between structural variation and Alzheimer's disease phenotype using solid-state nuclear magnetic res

283 review, we highlight the sharply contrasting disease phenotypes using ICAM-1 isoform mutant mice.

284 e 1p13 rs12740374 variant on cardiometabolic disease phenotypes via transcriptomics and metabolomic s

285 This disease phenotype was explained by the presence of large

286 study how an N-terminal mutation affects the disease phenotype, we generated an inducible Atm mutant

287 Guided by the disease phenotype, we investigated the role of CHC22 in

288 te the molecular mechanisms underlying these disease phenotypes, we applied a site-specific quantitat

289 rential gene expression with smoking-related disease phenotypes, we demonstrated that stroke and pulm

290 causes distinct genetic background-dependent disease phenotypes, we performed a screen for genetic mo

291 Allergic disease phenotypes were defined by using questionnaires

292 Other disease phenotypes were not socially patterned or had SE

293 These disease phenotypes were rescued in RAG2(-/-), IFN-gamma(

294 a disease spectrum with mild to very severe disease phenotypes whose traditional common characterist

295 Associating disease phenotype with mutation is confounded by extensi

296 It combines this prior evidence of disease phenotypes with the experimentally derived disea

297 ctive shCYP46A1, reproduced the Huntington's disease phenotype, with spontaneous striatal neuron dege

298 ing gammaPNAs and donor DNAs ameliorated the disease phenotype, with sustained elevation of blood hae

299 g alterations were specific for motor neuron disease phenotypes, with clinically overt upper motor ne

300 a nearly identical clinical and pathological disease phenotype, yet maintained their structural diver