ライフサイエンスコーパス: disease-associated

1 regulatory potential and likelihood of being disease associated.

2 The disease-associated allele of rs4402765, the lead marker

3 Previous studies suggest that one-third of disease-associated alleles alter splicing.

4 are seeking to determine the frequencies of disease-associated alleles and genotypes and delineate s

5 The disease-associated alleles have been implicated in reduc

6 developing mesoderm, we engineered all five disease-associated alleles into the equivalent Glu29 res

7 We hypothesized that human genes and disease-associated alleles might be systematically funct

8 In conclusion, we show how a single disease associated amino acid change may allosterically

9 Disease-associated amino acid substitutions cluster in r

10 constituent of drusen deposits are Alzheimer disease-associated amyloid beta (Abeta) peptides.

11 ance of such interactions between PrP(C) and disease-associated amyloid-beta species will require exp

12 We identified multiple disease-associated and polygenic risk score-associated d

13 imbalance between the small set of available disease-associated and the much larger set of non-delete

14 Therapeutic antibodies targeting disease-associated antigens are key tools in the treatme

15 These filters impacted variants known to be disease associated as 2 out of 16 confirmed associations

16 fer on TCRalphabeta chains reactivity toward disease-associated autoantigens in the context of divers

17 transpeptidase sortase to covalently attach disease-associated autoantigens to genetically engineere

18 ith CPVT from WES clinical testing represent disease-associated biomarkers.

19 Measles is an acute viral disease associated both with immune suppression and deve

20 We hypothesized that key disease-associated cells would show evidence of prior Ag

21 Patient podocytes and RPE cells carrying disease-associated CFH genetic variants had more alterna

22 w this approach can be leveraged to identify disease-associated changes in DNA methylation, suggestin

23 levated protein ubiquitination and exhibited disease-associated changes in transcriptome profiles whe

24 biased analysis of chromatin interactions at disease-associated cis-elements and developmentally regu

25 tions for MenY clones but also evidence of a disease-associated clone.

26 ignaling in which the UPR(MT) pathway, under disease-associated, context-specific dysregulation, exac

27 These disease-associated contigs were statistically linked to

28 To understand the impact of disease-associated de novo mutations and other rare sequ

29 with neurologic disorders such as Parkinson disease-associated dementia and HIV-associated dementia

30 evades sHsp chaperone action leading to its disease-associated deposition.

31 nt therapeutic target for inflammatory bowel disease-associated diarrhea.

32 ulonephritis and used ABBA to identify >1000 disease-associated DMRs.

33 50-mum sections, revealing the activities of disease-associated DNA elements in distinct human brain

34 CRISP2 DMRs were identified as most central disease-associated DNA methylation biomarkers.

35 Rapid and reliable detection of disease-associated DNA methylation patterns has major po

36 ch has focused on the detection of risk- and disease-associated dysconnectivity in individuals with b

37 ncluding the proposed initiator of Alzheimer disease-associated dysfunctions, amyloid-beta.

38 rrent smokers and individuals with recent or disease-associated (e.g., from dementia, heart failure,

39 The majority of disease-associated enhancers contact genes beyond the ne

40 A16 and CV-A6, as well as severe respiratory disease-associated EV-D68, have developed a mechanism to

41 A16 and CV-A6, as well as severe respiratory disease-associated EV-D68, have developed novel mechanis

42 rogression and epidemiologic, virologic, and disease-associated factors were analyzed using logistic

43 Inflammatory bowel diseases-associated fibrosis was seen as an irreversible

44 ce on standard benchmarks for distinguishing disease-associated from neutral variation in humans.

45 rately quantify taxon-level contributions to disease-associated functional shifts.

46 Over 300 disease-associated GALT mutations have been reported, wi

47 In addition to disease-associated gene expression networks that were re

48 hancers (SEs) play critical roles in driving disease-associated gene expression.

49 assembly factor TIMMDC1 establishing a novel disease-associated gene.

50 of cancers and other diseases and to detect disease associated genes.

51 alleles causing splicing defects cluster in disease-associated genes (for example, haploinsufficient

52 elopment of additional drugs targeting other disease-associated genes in the same tissue.

53 Analysis of the most commonly mutated disease-associated genes revealed that, compared with tw

54 embryonic lethal mouse knockouts, Mendelian disease-associated genes, and regulators of transcriptio

55 particularly when truncating constrained and disease-associated genes.

56 rough discovery of and testing for recessive disease-associated genes.

57 Disease associated genetic variations often cause intrac

58 s being readily applied for the diagnosis of disease-associated genetic features.

59 regulome and the impact of neuropsychiatric disease-associated genetic risk variants.

60 nd compared to a large database of published disease-associated genetic variants (VARIMED); data on 3

61 Despite the identification of thousands of disease-associated genetic variants through genome wide

62 sequencing studies can aid the discovery of disease-associated genetic variants, especially those wi

63 n of replication resources underlie age- and disease-associated genome instability.

64 heterozygous mice (i.e., they coexpress the disease-associated Gln460Arg variant together with its n

65 We show that a large proportion (85%) of disease-associated haploblocks express novel multi-exoni

66 We find that a neurodegenerative disease-associated hCCS mutation abrogates the interacti

67 s or improve the regenerative ability of the disease-associated hematopoietic niche.

68 translational value for targeting ageing- or disease-associated hippocampal dysfunction.

69 onserved in the sequence of deafness/Crohn's disease-associated homopolymeric glycoproteins alpha-tec

70 chemokine production, there are no reported disease-associated human cases of RESTV infection, sugge

71 part of this analysis, we engineered several disease-associated human tubulin mutations into C. elega

72 However, disease-associated hybrid E. coli, containing unique com

73 ory bowel disease (IBD) as well as Mendelian disease-associated IBD.

74 , we found that sequence perturbation of the disease-associated Il2ra enhancer did not entirely block

75 high vulnerability of human proteins towards disease-associated inactivation and recent evolutionary

76 rP(C)) influences PrP(C) misfolding into the disease-associated isoform, PrP(res), as well as prion p

77 Disease associated KIF1A mutations have been associated

78 the C-terminal extension of the Parkinson's disease-associated kinase PINK1.

79 SM datasets for functional interpretation of disease-associated loci and show the advantage of utiliz

80 unctional consequences for most inflammatory disease-associated loci are incompletely defined, includ

81 Results show that disease-associated loci in different populations, gene e

82 udies have identified 200 inflammatory bowel disease-associated loci, but few have been conclusively

83 Linkage analysis identified 2 disease-associated loci.

84 ach for identifying the causal variant(s) at disease-associated loci.

85 e analysis identified an approximately 18 Mb disease-associated locus on chromosome 4 (maximal logari

86 We find consistent patterns characterizing disease-associated microbiome changes.

87 enerative procedures predictably altered the disease-associated microbiome, with a restitution of hea

88 Shaul et al. identify a unique population of disease-associated microglia (DAM) that develop in two s

89 l expression of CH25H and Cst7, a marker for disease-associated microglia (DAM), which encodes an end

90 In the resolution phase, excess disease-associated microglia are removed by a dual mecha

91 Identification of disease-associated miRNAs (disease miRNAs) is critical f

92 ns on the protein level, we introduced three disease-associated missense variants (p.Cys87Phe [c.260G

93 orithm customized to computationally extract disease-associated motifs from next-generation-sequenced

94 Wild type WDR62, but not disease-associated mutant forms, interacts with the CPC

95 egulator (DeltaF508 CFTR), the most frequent disease-associated mutant of CFTR, may affect protein bi

96 However, a disease-associated mutant subunit prevents the interplay

97 0 receptor tyrosine kinases and 154 of their disease-associated mutants.

98 inding and activity in protein misfolding by disease-associated mutants.

99 ffects, making this an important category of disease-associated mutation.

100 ates how human iPSCs can be used to identify disease-associated mutations and determine how they affe

101 e human proteins towards inactivation due to disease-associated mutations and polymorphisms.

102 Structural analysis indicates that the 3 disease-associated mutations at positions 206, 281, and

103 Here we report that recurrent disease-associated mutations in BAF subunits induce geno

104 m of CAV1, defining a new mechanism by which disease-associated mutations in CAV1 impair caveolae ass

105 Disease-associated mutations in G1 studied to date are b

106 suggests a link between oligomerization and disease-associated mutations in LRRK2.

107 Our results also suggest that the disease-associated mutations in the corresponding region

108 The DNA-binding properties of several disease-associated mutations in the DBD were investigate

109 Disease-associated mutations increase TDP-43 mitochondri

110 Using iRegNet3D, we find that disease-associated mutations may perturb the regulatory

111 r the analysis of both coding and non-coding disease-associated mutations to obtain mechanistic insig

112 These findings reveal that disease-associated mutations to the extracellular loops

113 Understanding the structural consequences of disease-associated mutations will facilitate the identif

114 d not detect any differences attributable to disease-associated mutations, lectin binding and mass sp

115 (PTCs) account for approximately 11% of all disease-associated mutations.

116 xpression quantitative trait loci (eQTL) and disease-associated mutations.

117 elling genetic disorders through introducing disease-associated mutations.

118 bouring either the wild-type sequence or the disease-associated N296H mutation on an endogenous Mapt-

119 y in European Americans and with sickle cell disease-associated nephropathy.

120 tron emission tomography and their Alzheimer disease-associated neurodegeneration status (temporopari

121 We show that these three classes of disease-associated nodes exhibit non-random topological

122 Machine Learning (ML) methods for predicting disease-associated non-coding variants are faced with a

123 SNX9-driven actin comets that arise on human disease-associated oculocerebrorenal syndrome of Lowe (O

124 A disease-associated Optn mutant, E478G, defective in ubiq

125 Conformational changes in disease-associated or mutant proteins represent a key pa

126 ing from trauma, surgery, and as congenital, disease-associated, or drug-induced blood disorders can

127 PrP amyloids with or without the human prion disease-associated P102L mutation.

128 ly toxic host response contributing to prion disease-associated pathology.

129 pathogenesis through identification of major disease associated pathways-knowledge that has the poten

130 , and show an antisense approach can correct disease-associated phenotypes.

131 expression of wild-type cystinosin or by the disease-associated point mutant CTNS-K280R, which has no

132 ation, which could inhibit several stages of disease-associated positive feedback loops.

133 (SUMO) to protein substrates is an important disease-associated posttranslational modification, altho

134 overlapping regulatory subunits, to tolerate disease-associated PP2A mutations, resulting in reduced

135 sues collected at necropsy were examined for disease-associated prion protein (PrP(Sc)) by Western bl

136 Disease-associated prion protein (PrP(Sc)) was detected

137 n assay that captures, enriches, and detects disease-associated prion protein isoforms.

138 R DNA binding protein 43 (TDP-43) is a major disease-associated protein involved in the pathogenesis

139 ese aggregates contain the neurodegenerative disease-associated proteins alpha-Synuclein, Parkin, and

140 Although many neurodegenerative-disease-associated proteins can be found in mitochondria

141 of uEVs identified plakins and complement as disease-associated proteins in ADPKD.

142 and cytosolic UPRs, protecting the cell from disease-associated proteins.

143 uggable" human proteome from ~40% to ~78% of disease-associated proteins.

144 We map Fanconi anaemia-like disease-associated RAD51 mutations, clarifying potential

145 tein expressed in many tissues 1 (RIT1) is a disease-associated RAS subfamily small guanosine triphos

146 nd that GWAB could more effectively retrieve disease-associated reference genes than GWAS could alone

147 urce of previously unreported transcripts in disease-associated regions should provide an important s

148 e two configurations, which may give rise to disease-associated repeat expansion.

149 Prion disease-associated retinal degeneration is attributed to

150 tal system, we identify a common Parkinson's disease associated risk variant in a non-coding distal e

151 lnerability versus resilience in carriers of disease-associated risk alleles.

152 We also mapped disease-associated risk variants to specific cellular po

153 ocarcinoma, as well as in inflammatory bowel disease-associated SBAs.

154 at govern cell-specific functions and harbor disease-associated sequence variants.

155 m rheumatoid-arthritis patients, revealing a disease-associated signature of IFN-gamma-mediated repre

156 Although virtually all coronary artery disease associated single-nucleotide polymorphisms ident

157 Human proteins are vulnerable towards disease-associated single amino acid replacements affect

158 Within the CACNA1C gene, disease-associated single-nucleotide polymorphisms have

159 es and 90% pairs in the same chromosome, the disease-associated SNP may alter expression of the trans

160 ncovered over ten thousand significant trait/disease associated SNPs (TASs).

161 A interactomes predicted bZIP binding to 156 disease associated SNPs, of which only 20 were previousl

162 recently developed proteome-wide analysis of disease-associated SNPs (PWAS) enables identification of

163 mpal meQTLs and eQTLs provide a link between disease-associated SNPs and the regulatory genome that w

164 Disease-associated SNPs were distinct in these complexes

165 ether, our data reveal a novel mechanism for disease-associated SNVs and provide a platform for model

166 es than the BONE group (P <0.05), especially disease-associated species, e.g., Selenomonas noxia, F.

167 quencing was used to successfully identify a disease-associated splice donor site variant in the sort

168 mophila genomes, including 337 from the five disease-associated STs and 27 representative of the spec

169 lead to new therapeutic strategies for liver disease-associated symptoms.

170 Preliminary work in AD has established that disease-associated T-cell abnormalities can be approache

171 imilar efficiency, and doubled the number of disease-associated target Cs able to be corrected prefer

172 genic expression of public, but not private, disease-associated TCRbeta paired with endogenously rear

173 Here, we aimed to determine if disease-associated TCRs could be identified in the nonvi

174 associations between genetic variants and a disease-associated trait.

175 ittle to modulate the extensive Huntington's disease-associated transcriptional dysregulation, consis

176 Identifying these sites can point to disease-associated transcriptional pathways, with implic

177 ermore, autosomal dominant polycystic kidney disease-associated TRPP2 mutant T448K significantly weak

178 Our functional assays of disease-associated variant alleles revealed impaired mic

179 s show tissue- and cell-type specificity and disease-associated variants are often enriched for CREs

180 Autoimmune disease-associated variants are preferentially found in

181 l1Delta yeast strains, whereas expression of disease-associated variants did not.

182 We demonstrate that disease-associated variants from an epilepsy GWAS meta-a

183 ction sets from GENCODE, more phenotype- and disease-associated variants from ClinVar and ClinGen, mo

184 nt different genetic architectures, in which disease-associated variants have different effect sizes

185 Overall, we identified 11 potentially causal disease-associated variants in 12 cases, for an overall

186 The location of the majority of shared disease-associated variants in noncoding regions suggest

187 unctional variants and applied to prioritize disease-associated variants in the corresponding tissue.

188 NCE STATEMENT Functional characterization of disease-associated variants is a key challenge in unders

189 of the human genome is non-coding and 93% of disease-associated variants lie in these regions.

190 To assess the extent to which disease-associated variants might activate cryptic splic

191 d a larger region significantly enriched for disease-associated variants that contains both the conve

192 We then mapped this and other disease-associated variants to a 3-dimensional model of

193 ysiological studies have shown a majority of disease-associated variants to exert their effects throu

194 The disease-associated variants were reported to the medical

195 This has implications for disease-associated variants where p.Gln188Arg, the most

196 act of 179 variants (101 disease- and 78 non-disease-associated variants) from 22 human disease genes

197 and modification), RNA secondary structures, disease-associated variants, and gene expression and fun

198 ery, explore the phenotypic consequences for disease-associated variants, and test causal inference.

199 These response eQTLs were enriched in disease-associated variants, particularly for autoimmune

200 WT Sply, but not the disease-associated variants, rescued this phenotype.

201 Among 1,423 unannotated CFTR disease-associated variants, the method identified 32 po

202 without requiring explicit identification of disease-associated variants, thus maximizing power in co

203 which helped us ascribe molecular effects to disease-associated variants.

204 ralogs DVL2 and DVL3 to search for potential disease-associated variants.

205 ur migration and also discovered eight novel disease-associated variants.

206 cerQTLs are significantly enriched in traits/diseases associated variants reported from genome-wide a

207 e broadly useful for studies of function and disease-associated variation in the human genome.

208 dentify genes and pathways affected by human disease-associated variation, enabling a mechanistic int

209 Using Random Forests analysis, we identified disease-associated viral bacteriophage contigs after sub

210 Here, we find that Parkinson disease-associated Vps35 variant, R524W, but not P316S,

211 or healthier agers (i.e., nonsmokers without disease-associated weight loss), having central adiposit

212 paradox" is partly explained by smoking and disease-associated weight loss.

213 Rheumatoid arthritis is a complex disease associated with >100 risk loci, with the stronge

214 he potential to influence risk and burden of disease associated with aberrant CaMKK2 activity in huma

215 Absolute excess risk of biliary tract disease associated with ADPKD was larger than that for s

216 Psoriasis, a chronic inflammatory disease associated with an accelerated risk of myocardia

217 ia-parkinsonism (XDP) is a neurodegenerative disease associated with an antisense insertion of a SINE

218 phagitis (EoE) is an esophageal inflammatory disease associated with atopic diseases.

219 and risk of NV are related to the underlying disease associated with AVLs.

220 enome, for the telomere, and for the risk of disease associated with carrier status is hampered by a

221 Malaria is a global disease associated with considerable mortality and morbi

222 Acute myeloid leukemia (AML) is a disease associated with epigenetic dysregulation.

223 a chronic relapsing autoimmune inflammatory disease associated with extensive cell death, exhibit hi

224 niasis (VL) is a potentially fatal parasitic disease associated with fever, cachexia and impaired pro

225 mphangioleiomyomatosis (LAM) is a fatal lung disease associated with germline or somatic inactivating

226 mmensal microbes and contribute to diarrheal disease associated with giardiasis.

227 of the phenotypic and genotypic spectrum of disease associated with GNB3 retinopathy.

228 (CS) is associated with an increased risk of disease associated with immune function in the offspring

229 ren delivered by CS are at increased risk of disease associated with immune function.

230 Bruck Syndrome is a connective tissue disease associated with inactivating mutations in lysyl

231 In multivariable adjusted analyses, kidney disease associated with increased odds of odor identific

232 Psoriasis, a chronic inflammatory skin disease associated with increased susceptibility to athe

233 The burden of diarrheal disease associated with IWS likely exceeds the WHO healt

234 ildren born with Alagille Syndrome (ALGS), a disease associated with JAGGED1 mutations.

235 , a neurodegenerative and cardiodegenerative disease associated with oxidative stress, reported decre

236 iomyopathy (AC) is an inherited heart muscle disease associated with point mutations in genes encodin

237 ebral adrenoleukodystrophy (cALD) is a fatal disease associated with progressive cerebral demyelinati

238 aplastic anemia (SAA) is a rare hematologic disease associated with significant morbidity and mortal

239 for immediate therapy to rapidly progressive disease associated with therapeutic resistance.

240 The delay in disease associated with this scenario suggests a role fo

241 g disease, the phenotype of obstructive lung disease associated with work-related organic dust exposu

242 en developed to replicate various aspects of disease associated with ZIKV infection.

243 ediatric systemic capillary leak (Clarkson's disease) associated with a point mutation in p190BRhoGAP

244 hology (such as cancer or serious neurologic disease) associated with urinary incontinence, the clini

245 of origin become more prominent later in the disease, associated with distal motor axonal sprouting a

246 or cause of invasive nontyphoidal Salmonella disease, associated with high case fatality.

247 mary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increase in susc

248 contributing to PR variability and identify diseases associated with a genetic predictor of PR varia

249 he therapy of AD and other neurodegenerative diseases associated with Abeta and tau pathology.

250 de implications, ranging from development to diseases associated with abnormal Notch signaling.

251 2 can be attenuated through a SFN, to combat diseases associated with aging.

252 (alphaKL) regulates mineral metabolism, and diseases associated with alphaKL deficiency are characte

253 hod for treating certain molecularly defined diseases associated with alterations in lamin A/C (LMNA)

254 a novel treatment option for several chronic diseases associated with altered gut microbiota.

255 ategies in the treatment of gastrointestinal diseases associated with altered IESC function.

256 lammatory cardiovascular and cerebrovascular diseases associated with an elevated blood level of Fg.

257 nd identify new models of human neurological diseases associated with antecedent infections, we analy

258 s translational promise for ocular and other diseases associated with cell stress and protein misfold

259 ut bacteria trigger various polyaetiological diseases associated with chronic inflammation and underl

260 des may have therapeutic potential in airway diseases associated with chronic mucous hypersecretion.B

261 might open new treatment options in blinding diseases associated with corneal edema and transparency

262 the prevention and treatment of neurological diseases associated with DHA deficiency, such as Alzheim

263 The growing recognition of diseases associated with dysfunction of mitochondria pos

264 d therapeutics and theranostics for treating diseases associated with dysfunctional macrophages.

265 ibute to the pathogenic mechanism of several diseases associated with dysfunctional PDI.

266 However, the complexity of diseases associated with dysregulated MMP expression nec

267 -associated diseases.IMPORTANCE Incidence of diseases associated with EBV varies greatly in different

268 ng a molecular basis for understanding human diseases associated with ER dysfunction.

269 as been reported as a potential biomarker in diseases associated with excessive macrophage activation

270 otential value as a biomarker for glomerular diseases associated with GBM alterations.

271 cision medicine approaches for CHD and other diseases associated with genetic factors.

272 ew pathway to develop nanomedicines for many diseases associated with glycocalyx dysfunction.

273 These findings add AD to the growing list of diseases associated with gut microbial alterations, as w

274 re a group of monogenetic or complex retinal diseases associated with high unmet medical need.

275 vels of VEGFs and Angs have been observed in diseases associated with higher vascular permeability (e

276 trast, GWAS meta-analyses of two other brain diseases associated with hippocampal pathology (Alzheime

277 in cancer, neurological disorders, or other diseases associated with HK2.

278 represent a therapeutic target for epidermal diseases associated with hyperproliferation and impaired

279 f cis-UCA may be a potential target for skin diseases associated with IgE-mediated mast cell degranul

280 ms and pathology in patients with MC-related diseases associated with increased IL-6 levels, includin

281 r possible implication in the development of diseases associated with increased intestinal permeabili

282 may be useful in treating connective tissue diseases associated with increased metalloproteinase act

283 otential in the treatment of alcoholic liver diseases associated with inflammation, oxidative stress

284 moting benefits, particularly in relation to diseases associated with inflammation.

285 oxidation and provide therapeutic benefit in diseases associated with mitochondrial dysfunction.

286 utic approach for obesity- and aging-related diseases associated with mitochondrial dysfunction.

287 and treatment of human breast cancer and the diseases associated with mitochondrial energy metabolism

288 racterize the pheochromocytoma/paraganglioma diseases associated with mutations of the 4 new genes.

289 CSTOR components are mutated in neurological diseases associated with mutations that lead to hyperact

290 ites of vascular changes and astrogliosis in diseases associated with neuroinflammation.

291 ies and effects in the prevention of various diseases associated with oxidative stress, HAs can be ex

292 l food, able to prevent a variety of chronic diseases associated with oxidative stress.

293 ic relief for patients with gastrointestinal diseases associated with pain.

294 ential as therapeutic interventions in human diseases associated with premature termination codons (P

295 geted therapy could benefit treatment of the diseases associated with sGCbeta1 down-regulation and/or

296 "periodically" educate patients about ocular diseases associated with smoking, 142 (49%) "seldom" or

297 with histiocytoses, which are clonal myeloid diseases associated with somatic mutations in the RAS-ME

298 omal storage diseases and neurodevelopmental diseases associated with the mTOR pathway, which may be

299 of allergic diseases and wheezing, which are diseases associated with type 2-biased immunity.

300 e in which XIAP alleles can be replaced with disease-associated XIAP variants expressed at endogenous