ライフサイエンスコーパス: disease-associated

1 ations in the human exome, some of which are disease associated.

2 n stability and the likelihood of them being disease associated.

3 otein-coding human genes, of which 1,246 are disease-associated.

4 Hence, clusters are disease-associated.

5 ysfunctional epigenetic donor cell memory or disease-associated aberrations in patient-specific hiPSC

6 e of AMPKalpha overactivation in Alzheimer's disease-associated (AD-associated) synaptic failure.

7 fforts to define the mechanistic effects for disease associated ADAR1 mutations and the rational desi

8 ls enabled the identification of significant disease-associated alterations in gene co-regulation pat

9 re likely to impact many disciplines, as the disease-associated alternate branch point utilization de

10 supramolecular architecture of a variety of disease-associated amyloids.

11 and sequencing have identified a plethora of disease-associated and disease-causing genetic alteratio

12 These disease-associated astrocytes appeared at early disease

13 NA sequencing, we identified a population of disease-associated astrocytes in an Alzheimer's disease

14 activity of MIS-C plasma revealed both known disease-associated autoantibodies (anti-La) and novel ca

15 Antibiotic treatment reduced disease-associated bacteria such as Clostridium perfring

16 robiome composition, with blooms of oral and disease-associated bacteria.

17 rated the potential of ASL imaging to detect disease-associated bone marrow perfusion changes.

18 olecular pathways connecting DNA sequence to disease-associated brain dysfunction.

19 We identify and characterize a new disease-associated calsequestrin mutation, S173I, that i

20 s the function of Cdk8 in the fly, the human disease-associated CDK19 variants behave as strong loss-

21 ses to define alterations within and between disease-associated cell populations are desperately need

22 Detection of disease-associated, cell-free nucleic acids in body flui

23 DCs also have the greatest disease-associated changes in chromatin accessibility an

24 Modelling of disease-associated changes in gene expression via CRISPR

25 ap approach, the data strongly suggests that disease-associated changes in RGC spatial distribution a

26 Disease-associated changes in synaptic functions are tig

27 alongside matched healthy controls to reveal disease-associated changes in the epithelial composition

28 tively, our data uncover a novel psychiatric disease-associated circRNA that regulates synaptic gene

29 (FastGCN) algorithm to predict the potential disease-associated circRNAs.

30 for the pathophysiology of neuropsychiatric disease-associated cognitive dysfunction.

31 MGRB individuals have fewer disease-associated common and rare germline variants, re

32 yme assembles into a functional complex, and disease-associated complex II insufficiency may result f

33 ng relapse reaching epidemic proportions and disease-associated costs continuing to escalate.

34 rily by more hospitalizations and higher CMV disease-associated costs due to delayed onset post-proph

35 ility of single-cell genomics in discovering disease-associated cytologic signatures and provides ins

36 ients underwent genetic investigations of 76 disease-associated DCM genes.

37 a deletion on chromosome 22q13.3 and capture disease-associated defects in calcium activity, showing

38 sm that drives ribosome biogenesis, identify disease-associated disruption of nucleoli by noncoding R

39 Disease-associated DMPs were more obvious in a limited s

40 We provide strong evidence that disease-associated DNA variants regulate cis-CpG methyla

41 , we found that the toxicity associated with disease-associated DNAJB6 required its interaction with

42 ur ability to elucidate molecular drivers of disease-associated dysbiosis across the microbiota.

43 tion and colocalisation with the Parkinson's disease-associated E3 ubiquitin ligase Parkin.

44 Although these disease-associated effects have been mostly attributed t

45 The functions of a large majority of disease-associated enhancers are unknown, in part owing

46 These findings reveal mechanisms by which disease-associated environmental signals instruct reside

47 milies with biallelic or multiple pathogenic/disease-associated EYS variants were ascertained by whol

48 Twenty-six pathogenic/disease-associated EYS variants were identified, includi

49 in heritability model fit and in classifying disease-associated, fine-mapped SNPs.

50 ve provided critical insight, the normal and disease-associated functions of TREM2 in human microglia

51 modification of the FXN locus caused by the disease-associated GAA expansion.

52 strate how the enzymatic cycle is detuned by disease-associated gain-of-function mutations.

53 The clinical spectrum of Parkinson's disease-associated gene carriers in this mainland Chines

54 establishing a role for this coronary artery disease-associated gene in fundamental SMC processes and

55 nt of immune and stromal cells and to define disease-associated gene signatures by using statistical

56 , we found that human patients with DNASE1L3 disease-associated gene variations showed aberrations in

57 TS identified more disease associated genes than comparable methods.

58 to develop a new powerful method to identify disease associated genes using existing GWAS summary dat

59 So far, only a few validated disease-associated genes have been reported.

60 ast genetic heterogeneity with >75 candidate disease-associated genes having been reported to date.

61 we investigate genes that are close to other disease-associated genes in a complex multi-dimensional

62 a comprehensive study surveying genome-wide disease-associated genes in adults with deep phenotyping

63 enes with Epigenetic aNnotation) to identify disease-associated genes leveraging epigenetic informati

64 ociation studies in discovering thousands of disease-associated genes necessitates developing novel h

65 pathogenic variants in 23 known Parkinson's disease-associated genes occurred more frequently in the

66 stochastic semi-supervised learning to rank disease-associated genes through iterative learning sess

67 multiplexed repression of neurodevelopmental disease-associated genes to single-cell transcriptional

68 athogenic and population variants from 1,330 disease-associated genes using over 14,000 experimentall

69 Expression of disease-associated genes was cell-type-specific in adult

70 se proteins, including 64 orthologs of human disease-associated genes with 40 as potential new diseas

71 EN (Transcriptome-mediated identification of disease-associated Genes with Epigenetic aNnotation) to

72 retic centrality can prioritize influential, disease-associated genes within biological networks, and

73 tions identify additional loci and elucidate disease-associated genes, biology, and pathways.

74 proximity measures between drug targets and disease-associated genes, genome-wide gene expression an

75 For disease-associated genes, it is imperative that we diffe

76 Among known disease-associated genes, those that are mutation-intole

77 ed guidelines to identify causal variants in disease-associated genes.

78 genic variants involved in known Parkinson's disease-associated genes.

79 e capture of true prioritization signals for disease-associated genes.

80 udies for predicting pathway-, phenotype- or disease-associated genes.

81 functional elucidation of neurodevelopmental disease-associated genes.

82 any of the impacted genes are widely studied disease-associated genes.

83 es that nowadays predispose these regions to disease-associated genetic instability.

84 tatus, and the first database recording 1218 disease-associated genetic mutations that may function t

85 n monocyte-derived dendritic cells from IRF5 disease-associated genetic risk carriers leading to incr

86 udy and analysed the most recent Parkinson's disease-associated genetic risk score to detect genetic

87 ession is critical for assessing the role of disease-associated genetic risk variants.

88 enges remain in characterizing the resulting disease-associated genetic variants and prioritizing fun

89 Most disease-associated genetic variants have been shown to r

90 The observation that disease-associated genetic variants typically reside out

91 studies are providing a growing catalogue of disease-associated genetic variants, and the next challe

92 human orthologues of which were enriched for disease-associated genetic variants.

93 igenomics seeks to understand the effects of disease-associated genetic variation on functional reado

94 s and have the potential for detecting novel disease-associated genomic loci not captured by establis

95 o detect easily quantifiable, site-specific, disease-associated glycan alterations for clinical appli

96 Of the 15 trait/disease-associated haplotypes at TNFAIP3, 9 have at leas

97 associated with the mobilome, including the disease-associated integrative and conjugative element (

98 t evidence for chronic obstructive pulmonary disease-associated kidney injury.

99 We tested six disease-associated Kirrel3 missense variants and found t

100 Moreover, this study tests the effects of disease-associated Kirrel3 missense variants on synapse

101 enes or show complex interactions for 20% of disease associated loci, including FOXO1, which we confi

102 Different disease-associated loci and pathogenic gene mutations we

103 Many disease-associated loci are found in non-coding regions

104 characterize genetic variation at important disease-associated loci, and aids in the effort to ident

105 plicating FYCO1 over other nearby genes in a disease-associated locus on chromosome 3.

106 ripheral blood, respectively, including many disease-associated markers (e.g., IL12B, CD5) showing po

107 ital mortality in fibrotic interstitial lung disease-associated mechanical ventilation when viewed th

108 mputational approaches, revealed a detailed, disease-associated metabolic profile with broad changes

109 holine is metabolized by gut bacteria to the disease-associated metabolite trimethylamine (TMA).

110 (TREM2) increase AD risk, and activation of disease-associated microglia (DAM) is dependent on TREM2

111 a population by increasing the prevalence of disease-associated microglia.

112 human microglia further highlights a loss of disease-associated microglial (DAM) responses in human T

113 riables, have hampered the identification of disease-associated miRNomes.

114 this report, we investigated representative disease-associated missense mutations to determine their

115 oplet formation is significantly enhanced by disease-associated modifications, including the AT8 phos

116 The determination of disease-associated molecules at trace amounts is a key f

117 We used DdCBEs to model a disease-associated mtDNA mutation in human cells, result

118 d its effects in the central nervous system, disease-associated mutant HTT causes aberrant phenotypes

119 r, wild-type NRROS rescues the defect of our disease-associated mutants in presenting latent TGF-beta

120 f full-length hnRNPA2 and aggregation of the disease-associated mutants.

121 the I1061T variant of NPC1, the most common disease-associated mutation leading to NPC disease.

122 d structure-guided or strategically selected disease-associated mutations are able to impair Na(V) -a

123 characterized, impeding understanding of how disease-associated mutations cause pathology.

124 e pericentriolar architecture are altered by disease-associated mutations found in the Cep57-Cep63-Ce

125 Characterization of disease-associated mutations has been complicated by the

126 findings indicate that cellular profiling of disease-associated mutations has potential to contribute

127 No disease-associated mutations have been described for thi

128 A4/2 C-terminal SnAc/post-SnAc regions, with disease-associated mutations in either causing attenuate

129 In contrast, disease-associated mutations in either CTC1 or RTEL1 are

130 Disease-associated mutations in IL-11Ralpha are generall

131 addition, we discuss the recently identified disease-associated mutations in NLRP1 and CARD8, the pot

132 Additionally, we show that disease-associated mutations in proteins often result in

133 This article reviews RIPK1 biology and disease-associated mutations in RIPK1 signalling pathway

134 Here, we show that both disease-associated mutations in the human TRPM3 render t

135 decline in neuronal health or expression of disease-associated mutations in the pathway may exacerba

136 ude side-chain chemistry and can predict how disease-associated mutations may impact folding.

137 ential to visualize the functional impact of disease-associated mutations on enzyme-cofactor complexe

138 e the effect of homozygous Psen1 Alzheimer's disease-associated mutations on neurodegeneration in old

139 ss of Complex III and allow mapping of human disease-associated mutations onto the Bcs1 structure.

140 aturation experiment, and found that genetic disease-associated mutations tend to have a significantl

141 Glucose binding and disease-associated mutations that suppress cooperativity

142 tal PDE10A is compromised in disorders where disease-associated mutations trigger a reduction in the

143 ion and were disrupted by human skin barrier disease-associated mutations.

144 ocated to the subretinal space, an inducible disease-associated niche that was poorly accessible to m

145 Understanding the functions of disease-associated noncoding variants is essential for u

146 unctions in the nucleus and that Parkinson's disease-associated Parkin mutants, ParkinR42P and Parkin

147 ia, including Ruminococcus gnavus, a Crohn's disease-associated pathobiont.

148 risk alleles for common diseases can expose disease-associated pathways, revealing novel drug target

149 tion of calpain-1 expression ameliorates the disease-associated phenotype in MJD cells and mice.

150 ysteine-rich domain (CRD) 2 results in TRAPS disease-associated phenotype.

151 ccumulation and neuronal death, ameliorating disease-associated phenotypes and lifespan.

152 prostate cancer, and breast cancer, rescuing disease-associated phenotypes in the latter two.

153 assessment of the biochemical properties of disease-associated prion protein (PrP(Sc)).

154 hnique that can be used for the screening of disease-associated proteases in patient samples from mul

155 Single-cell bioimaging profiles many disease-associated protein biomarkers in patient biopsie

156 ding, while isomerase-binding to a separate, disease-associated protein region opposes aggregation.

157 In humans with chronic obstructive pulmonary disease-associated pulmonary hypertension and in rats wi

158 ns affected by chronic obstructive pulmonary disease-associated pulmonary hypertension and in the lun

159 ependent thiol oxidase activity, whereas the disease-associated R161G variant stabilized cob(II)alami

160 The disease-associated R218Q mutation impairs these N-fragme

161 tion study (GWAS), which identified a 1.3 Mb disease-associated region on canine chromosome 33, follo

162 19 cases, the Hominidae orientation of these disease-associated regions is always derived.

163 Disease-associated repeat expansions in other TFs (HOXA1

164 Nearly all disease-associated risk loci are located in the non-codi

165 velopmental processes as well as the role of disease-associated risk variants.

166 can accelerate the identification of distal disease-associated risk variants.

167 ement for inactivation of multiple copies of disease-associated RNA and therapeutic efficacy.

168 This disease-associated role presently focuses major interest

169 Such applications include identifying disease-associated screenable phenotypes, understanding

170 We analyze the impact of disease-associated SDHA mutations on assembly and identi

171 tein, a hydrophobic and highly fibrillogenic disease-associated segment.

172 Moreover, disease-associated SHP2 mutants can recruit and activate

173 e separation (LLPS) behavior shared by these disease-associated SHP2 mutants.

174 36 loci overlapped with previously reported disease-associated signals, predominantly for autoimmune

175 ssociation studies have revealed that 88% of disease-associated single-nucleotide polymorphisms (SNPs

176 tions in the discovery of potentially causal disease-associated single-nucleotide polymorphisms (SNPs

177 as a potential target for treating vascular disease-associated skeletal muscle dysfunction.

178 We find that disease-associated SNPs are overrepresented in GRBs and

179 cannot identify functional SNPs (fSNP) from disease-associated SNPs in linkage disequilibrium (LD).

180 rmation on the molecular mechanisms by which disease-associated SNPs in lncRNAs influence disease pat

181 this work assesses in vivo the importance of disease-associated SNPs in the activity of endocrine pan

182 We corrected 3,388 disease-associated SNVs with >=90% precision, including

183 e ratio of the sum of relative abundances of disease-associated species to that of health-associated

184 ding disorders, wherein the stabilisation of disease-associated states provides selectivity while inh

185 sibly modulates working memory in normal and disease-associated states.

186 ations in Neurexin1alpha, a neuropsychiatric disease-associated synaptic molecule, in value-based cho

187 Finally, we directly link the disease-associated TGFB1-SMAD3 pathway to the CAD-associ

188 acterize all common variants at the multiple disease-associated TNFAIP3 locus in five disease-relevan

189 cal burn to the corneal tissue, simulating a disease associated to structural damage of the stromal l

190 PCC enzyme in liver and thus reduce primary disease-associated toxins in a dose-dependent manner in

191 autozygosity in 4 out of 13 cardiometabolic disease-associated traits using data from more than 10,0

192 , we find that wild-type microglia acquire a disease-associated transcriptional state, while TREM2-de

193 iseases are diagnosed only after significant disease-associated transformations have taken place.

194 genome-wide genomic testing to identify all disease-associated types of CNVs.

195 It also co-localized with the disease-associated variant pS129-alpha-synuclein in rote

196 irectly inform the cellular context in which disease-associated variants act.

197 s identification of the relationship between disease-associated variants and specific genes, and in p

198 Trait/disease-associated variants are enriched among SNPs prio

199 enetic risk remains a challenge because most disease-associated variants are non-coding and functiona

200 mechanisms has been more challenging because disease-associated variants are often found in distal re

201 ccurate variant databases, a large number of disease-associated variants are still hidden in the biom

202 2path on sets of genomic intervals harboring disease-associated variants as query.

203 Disease-associated variants cluster in the extracellular

204 e regulation, with transposable elements and disease-associated variants enriched at distal interacti

205 CE ADVICE 5: Patients should be analyzed for disease-associated variants in human leukocyte antigen g

206 We aimed to identify the specific disease-associated variants in this locus, and their pot

207 ared genetic region, and STAT1 /STAT4-immune disease-associated variants modulate IFN-gamma- and IL-1

208 recent advances in therapeutics and pinpoint disease-associated variants that remain poorly defined i

209 ed retinal disease (EYS-RD), and to discover disease-associated variants with relatively high allele

210 Most disease-associated variants, although located in putativ

211 ference concerning the regulatory effects of disease-associated variants.

212 sequence interruptions at the loop suggests disease-associated variations impact expansion mechanism

213 Fibropapillomatosis (FP) is a tumor disease associated with a herpesvirus (chelonid herpesvi

214 We identified an outbreak of severe RSV-B disease associated with a new genetic lineage among urba

215 inosinusitis (CRS) is a chronic inflammatory disease associated with a substantial personal and socio

216 Allergic asthma is a leading chronic disease associated with airway hyperreactivity (AHR).

217 Psoriasis is a T helper type 17 autoimmune disease associated with an increased risk cardiovascular

218 sible mechanism for the severe and prolonged disease associated with avian influenza virus infections

219 est that the increase in risk of Parkinson's disease associated with beta-adrenoceptor antagonists us

220 Atopic Dermatitis is an inflammatory skin disease associated with broad defects in skin barrier fu

221 PORTANCE Fibropapillomatosis (FP) is a tumor disease associated with chelonid herpesvirus 5 (ChHV5) t

222 monary disease (COPD) is a debilitating lung disease associated with cigarette smoking.

223 erapeutic value in the treatment of vascular disease associated with diabetes.

224 eal squamous cell carcinoma (ESCC), a deadly disease associated with dietary Zn deficiency and inflam

225 e of hepatitis C virus (HCV) and significant disease associated with drug use; however, HCV treatment

226 sease (CD) and ulcerative colitis (UC), is a disease associated with dysbiosis, resulting in compromi

227 is underscored by the recent rise in ocular disease associated with emerging haplotypes of T. gondii

228 encephalopathy (CTE) is a neurodegenerative disease associated with exposure to contact and collisio

229 increased neuroanatomic risk of Alzheimer's disease associated with exposure.

230 a potentially fatal multiorgan inflammatory disease associated with herpesvirus reactivation and sub

231 l hypertension is a highly prevalent chronic disease associated with hypertensive cardiomyopathy.

232 lergic asthma is a chronic inflammatory lung disease associated with increased cytokine secretion.

233 a prevalent, under-diagnosed, and treatable disease associated with increased fracture risk.

234 owel disease (IBD) is a chronic inflammatory disease associated with increased risk of gastrointestin

235 difficile strain influenced the severity of disease associated with infection.

236 Psoriasis is an inflammatory skin disease associated with itch, which is a troublesome sym

237 ia is a rare and poorly understood lymphatic disease associated with lymphatic dilation and leakage.

238 remains elusive in visceral leishmaniasis, a disease associated with macrophage M(IL-10) polarization

239 (EoE) is an emerging, chronic, rare allergic disease associated with marked eosinophil accumulation i

240 ilic esophagitis (EoE) is a chronic allergic disease associated with marked mucosal eosinophil accumu

241 sive supranuclear palsy, a neurodegenerative disease associated with misfolding of protein tau, indic

242 the causative agent of a severe respiratory disease associated with more than 2468 human infections

243 encephaly ('smooth brain') is a severe brain disease associated with numerous symptoms, including cog

244 e bronchopulmonary dysplasia, a chronic lung disease associated with preterm birth, which is characte

245 Recognition of neurological disease associated with SARS-CoV-2 in patients whose res

246 COVID-19, the disease associated with SARS-CoV-2 infection, rapidly sp

247 e X syndrome (FXS) is an X chromosome-linked disease associated with severe intellectual disabilities

248 Knee osteoarthritis (OA) is a heterogeneous disease associated with substantial effects on quality o

249 The incidence of COVID-19, the disease associated with this new coronavirus, continues

250 y, senile systemic amyloidosis, a nongenetic disease associated with wild-type TTR misfolding.

251 the most advanced stage of peripheral artery disease, associated with significant risk of limb loss,

252 tumors and for the diagnosis of nonmalignant diseases associated with a remodeling of the extracellul

253 Tauopathies are neurodegenerative diseases associated with accumulation of abnormal tau pr

254 l population would identify risk factors and diseases associated with adverse LV remodeling.

255 senescence has a causative role in multiple diseases associated with ageing.

256 There is an unmet need for treatments for diseases associated with aging.

257 differences in the prevalence of psychiatric diseases associated with altered risk taking.

258 may be amenable to therapeutic targeting in diseases associated with altered tissue perfusion and re

259 PA activity could be of therapeutic value in diseases associated with amyloid accumulation.

260 f the PAI-1-tPA pathway may be beneficial in diseases associated with amyloid accumulation.SIGNIFICAN

261 ions for the pathogenesis and progression of diseases associated with amyloid deposition, such as Par

262 as long been considered for treating various diseases associated with an elevated PLA2 activity.

263 strategy for preventing and treating cardiac diseases associated with cardiac remodeling.

264 orphogenesis, and suggest that one aspect of diseases associated with defective Notch signaling, such

265 robiome as a means of preventing or treating diseases associated with dysbiosis at mucosal surfaces.

266 tanding of the initiation and progression of diseases associated with dysregulated metabolic processe

267 ification of further therapeutic targets for diseases associated with endothelial barrier dysfunction

268 response, providing a new approach to treat diseases associated with endothelial dysfunction and vas

269 n patients and facilitate the study of brain diseases associated with epilepsy.

270 all had high prevalence in specific chronic diseases associated with frequent contact with the healt

271 Current treatments for diseases associated with GBM involvement aim to reduce i

272 Autoimmune diseases are chronic inflammatory diseases associated with high morbidity and mortality.

273 cardiorespiratory, paediatric, and maternal diseases associated with household air pollution has dec

274 previously unrecognized role of ILC2(10)s in diseases associated with ILC2s such as allergic lung inf

275 tors are in development for the treatment of diseases associated with immune dysregulation, including

276 underlying the neurological manifestation of diseases associated with impaired cholesterol synthesis

277 tatic plasticity is likely to play a role in diseases associated with long-term changes in brain func

278 A host of cellular defects and lipid-based diseases associated with loss or overexpression of PA ph

279 8 is undergoing development for treatment of diseases associated with mast cell and eosinophil-driven

280 athogen inhibitors and also to understanding diseases associated with membraneless organelles.

281 oside (NR) boosts NAD(+) levels and improves diseases associated with mitochondrial dysfunction.

282 tion is a potential therapeutic approach for diseases associated with mtDNA release.

283 ew, we will summarize and review the genetic diseases associated with mutations in genes of the Kenne

284 Laminopathies are rare diseases associated with mutations in LMNA, which encode

285 of CH24H may have therapeutic potential for diseases associated with neural hyperexcitation.

286 hogenesis of macrovascular and microvascular diseases associated with old age.

287 tion is a severe consequence of inflammatory diseases associated with osteolysis, such as rheumatoid

288 g an expanding spectrum of neurodegenerative diseases associated with pathogenic TDP-43 deposition, a

289 Tauopathies are a class of neurodegenerative diseases associated with pathological tau.

290 ) B cells has been described in a variety of diseases associated with persistent immune stimulation a

291 that may mitigate risks of acute and chronic diseases associated with RYR1 mutations.

292 s (ARCI) is a diverse group of cornification diseases associated with severe clinical complications a

293 -RMs) are a common group of childhood muscle diseases associated with severe disabilities and early m

294 Recently, hereditary diseases associated with single gene mutations in the Ke

295 population ageing, especially targeting the diseases associated with the largest increase in number

296 ovides a framework to dissect TF function in diseases associated with transcriptional dysregulation.

297 ow these pathways could be targeted to treat diseases associated with type 2 inflammation.

298 2-regulated exosomal miRNAs in PAH and other diseases associated with vascular remodelling.

299 y infections, its impact on autoinflammatory diseases, associated with inflammasome activation and IL

300 into the molecular basis for malfunction of disease-associated XPA missense mutations, and contribut