ライフサイエンスコーパス: aberrant

1 A prominent feature of the disease is aberrant accumulation of GFAP.

2 aired lysosomal proteolysis, as evidenced by aberrant accumulation of sequestered substrates within l

3 The aberrant accumulation of the microtubule associating pro

4 Aberrant accumulation of these TG6 mutants in the perinu

5 Neurodegenerative diseases characterized by aberrant accumulation of undigested cellular components

6 l role during embryonic development, and its aberrant activation has been implicated in the developme

7 rlin loss increased oxidative stress causing aberrant activation of Hedgehog signaling.

8 ociation with autoimmune disease, leading to aberrant activation of interferon.

9 Aberrant activation of MARKs was also found in a PD mous

10 Aberrant activation of matrix metalloproteinases (MMPs)

11 Aberrant activation of RAS/MAPK signaling is a driver of

12 of palatal morphogenesis through preventing aberrant activation of Sema3 signaling.

13 lyses showed that the mutation results in an aberrant activation of STAT3, leading to deleterious dow

14 , the most common human cancer, results from aberrant activation of the Hedgehog signaling pathway.

15 vivo proliferation rates of cell lines with aberrant activation of the Hedgehog signaling pathway.

16 ts and the proliferation of tumor cells with aberrant activation of the Hh pathway, which plays a cru

17 Aberrant activation of the Wnt signaling pathway plays a

18 and posttranslational mechanisms to prevent aberrant activation remains incompletely understood.

19 s of complement to protect human tissue from aberrant activation.

20 Importantly, targeted therapies blocking the aberrant activity of these targets restore sensitivity t

21 dules whose tweaking by the microbes promote aberrant activity.

22 While the aberrant adenylation of 16S mt-rRNA did not affect the i

23 These results implicate aberrant adiponectin pathway activity in skin fibrosis,

24 Atg9 loss also resulted in aberrant adult midgut morphology with dramatically enlar

25 These findings demonstrate the importance of aberrant afferent input in the maintenance of neuropathi

26 cental labyrinths of these embryos exhibited aberrant alignment of endothelial cells, which disturbed

27 The aberrant ALK expression in nonneural cells results from

28 Aberrant alternative pre-mRNA splicing (AS) events have

29 tricts mammary ductal elongation and induces aberrant alveolar side-branching.

30 Because aberrant and excess ncRNAs are largely degraded by exori

31 cardiac conduction system abnormalities with aberrant atrioventricular conduction and an increased ra

32 Theories of aberrant attentional processing in social anxiety, and a

33 implicated in gene silencing associate with aberrant autoantigen expression.

34 immunoglobulin (Ig)-related syndromes due to aberrant B-cell functions.

35 he primary outcome measure, the parent-rated Aberrant Behavior Checklist Social Withdrawal/Lethargy s

36 nd circuit-level alterations underlying this aberrant behavior remain poorly understood.

37 ve breast cancer (ErbB2(KI)), which exhibits aberrant beta-catenin nuclear signaling, beta-catenin ha

38 on analysis was first applied to capture the aberrant brain connectivity.

39 typical development and disorders involving aberrant brain development.

40 eoretically, autism should be underpinned by aberrant brain dynamics.

41 e risk and burden of disease associated with aberrant CaMKK2 activity in human populations carrying t

42 rvations implicate macrophages in normal and aberrant cardiac conduction.

43 tion of the "digital murine heart" to assess aberrant cardiac structures as well as the spatial distr

44 These findings suggest that aberrant Cav1.2 signaling may contribute to neuropsychia

45 The aberrant CCSC compartment observed after modulating O-Gl

46 r the targeted delivery of therapeutics into aberrant cells that overexpress the LDL receptor.

47 ed deficiency of both redox systems provokes aberrant chloroplast ultrastructure.

48 in the aftermath of chronic stress, in which aberrant choices and high-risk behaviors occur.

49 lity during AD through a mechanism involving aberrant CN/NFAT signaling and impaired glutamate transp

50 Adult Bax/Bak mutant mice exhibit aberrant co-activation of antagonistic muscle pairs and

51 fects at the dopamine transporter (DAT) with aberrant cocaine-taking behaviors.

52 ld-type transcript, resulting in reduced and aberrant collagen fibers in tibiae of seal homozygous mi

53 +/-) ) reduced the number of mutagen-induced aberrant colonic crypt foci.

54 nodes in participants with ASD, in which the aberrant connectivity has been shown to correlate with s

55 n and synapse formation, but also pruning of aberrant connectivity.

56 which social prediction error signalling was aberrant correlated with diagnostic measures of social d

57 istortion, implying that NEK6 suppresses the aberrant cortical microtubules.

58 in the complement pathway may contribute to aberrant cortical thinning in schizophrenia prodromes an

59 a motor phenotype, animal models of HD show aberrant cortical-striatal glutamate signaling.

60 s showed that the number of aberrant crypts, aberrant crypt foci (ACF) and crypts/focus in rats of th

61 catenin expression levels, and the number of aberrant crypt foci in the colon endothelium.

62 The results showed that the number of aberrant crypts, aberrant crypt foci (ACF) and crypts/fo

63 In contrast, aberrant cytokine signaling can also result in condition

64 Aberrant cytokine signaling initiated from mutant recept

65 drome (MDS) patients and observed widespread aberrant cytosine hypermethylation occurring preferentia

66 ponses to defend against infections, whereas aberrant cytosolic accumulation of self-DNA results in p

67 s, but the neural mechanisms underlying this aberrant decision making are unknown.

68 es its well defined role in innate immunity, aberrant degranulation of neutrophils in several inflamm

69 we found Golgi mislocalization and extensive aberrant dendrite formation.

70 We show that Mn accumulation promotes aberrant dephosphorylation of cell division proteins via

71 It is characterised by aberrant deposition of a 5.4 kDa protein called medin wi

72 hallmark of this disease is the presence of aberrant deposits containing by the Abeta peptide (amylo

73 stablish T cell identity and to suppress the aberrant development of ILCs, including ILC2s and lympho

74 Independent drivers of these aberrant developmental trajectories of respiratory micro

75 atterns between lines, some of which reflect aberrant differences relative to embryonic stem cells (E

76 udin-5 expression in vitro and in vivo while aberrant, discontinuous expression of claudin-5 in the b

77 using Illumina's 450k array and showed that aberrant DNA methylation is significantly altered at enh

78 Aberrant DNA methylation patterns are a common theme acr

79 The results show frequently aberrant DNA methylation, abundant chromosomal amplifica

80 g cornification of lingual keratinocytes and aberrant DNA retention is tolerated in the oral epitheli

81 ic 5'nucleases precisely identify and incise aberrant DNA structures during replication, repair and r

82 mployed ChIP-seq and 4sU-RNA-seq to identify aberrant DNA-binding events genome wide and ectopic tran

83 TET2 removes aberrant DNAm during OS through interacting with DNA met

84 In the absence of SIX1, but not JAG1, aberrant EDNRA signaling in the dorsal domain results in

85 Overexpression and mutations of EGFRs, or aberrant EGFR signaling are commonly associated with the

86 ito-nuclear incompatibility also resulted in aberrant egg morphology and a maternal-effect on embryon

87 Arrhythmogenesis from aberrant electrical remodeling is a primary cause of dea

88 In addition to mutations in genes, aberrant enhancer element activity at non-coding regions

89 Aberrant epidermal growth factor receptor (EGFR) signali

90 Cancer cells are characterized by aberrant epigenetic landscapes and often exploit chromat

91 Genetic reduction of Adcy1 normalizes the aberrant ERK1/2- and PI3K-mediated signalling, attenuate

92 arcinogenic process and interactions between aberrant events is to model a biomarker correlation netw

93 is a polyglutamine (polyQ) disease caused by aberrant expansion of the polyQ tract in Huntingtin (HTT

94 Aberrant expression and regulation of miRNAs have been i

95 stablished early on as proto-oncogenes, with aberrant expression linked to tumor progression in many

96 type I interferon-signalling pathway and an aberrant expression of host genes associated with pregna

97 RATIONALE: Aberrant expression of microRNAs (miRNAs) can have a det

98 Aberrant expression of microRNAs hae been shown to be cl

99 It is clear that the aberrant expression of miRNAs promotes tumor initiation

100 tightly regulated in the immune system, and aberrant expression of miRs often results in hematopoiet

101 for acquiring SR in HCC that is through the aberrant expression of the TYRO3/phosphoinositide 3-kina

102 Aberrant expression of these receptors, however, has bee

103 Moreover, aberrant expression of YAP and Aurora A signaling is hig

104 Importantly, this phenomenon explains the aberrant expression patterns of some cancer driver genes

105 pilin 1 (Nrp1) was recently identified as an aberrant extracellular binding partner of mutant GlyRS.

106 on leads to glutamate increases and promotes aberrant extrasynaptic signaling through ionotropic and

107 s for skeletal disorders associated with the aberrant FBW7/NOTCH2 pathway as observed in patients wit

108 n ALS, an early harbinger of dysfunction and aberrant firing of motor neurons.

109 eased Abeta and tau are both associated with aberrant fMRI activity in the MTL during memory encoding

110 Aberrant formation of interstitial telomeric sequences (

111 pathway of Dock7 as a possible cause of the aberrant formation of platelets in GPS cases and Nbeal2-

112 h harbors truncated proviruses and expresses aberrant forms of the Gag protein.

113 aling response characterized by the loss and aberrant function of lung epithelial cells.

114 Here, we review how aberrant function of the 22 FA genes and their signaling

115 n together, these data strongly suggest that aberrant GalNAc-T6 expression and site-specific glycosyl

116 We describe an aberrant gastrointestinal-lineage transcriptome expresse

117 egulators of systemic energy metabolism, and aberrant GC action is linked to metabolic dysfunctions.

118 tudies indicate that PTSD is associated with aberrant gene expression in brain as well as peripheral

119 despread changes in chromatin regulation and aberrant gene expression.

120 However, accumulation of aberrant genetic materials often causes the cell cycle t

121 egulation is important for the remodeling of aberrant glutamatergic neuronal circuits.

122 s warranted in HPV-negative HNSCCs driven by aberrant H3K36 methylation.

123 We report Inpp5e(-/-) embryos exhibit aberrant Hedgehog-dependent patterning with reduced Hedg

124 -active Ys in proteins and on functional and aberrant hole-transfer reactions in metallo-enzymes.

125 We suggest that prolonged and aberrant hormone-evoked Ca(2+) increases may stimulate t

126 y destruction of the alveolar bone due to an aberrant host inflammatory response to a dysbiotic oral

127 is characterised by seizures resulting from aberrant hypersynchronous neural activity.

128 some cancer driver genes, potentially due to aberrant hypomethylation of distal CGIs, despite methyla

129 s, and disruption of this network results in aberrant IFNalpha signaling and altered angiostatic acti

130 An aberrant IgA responsiveness to the gut microbiota during

131 oid arthritis (RA) do not reverse underlying aberrant immune function.

132 upport for the role of neuroinflammation and aberrant immune regulation in the pathophysiology of AD.

133 s an allergic airway disease (AAD) caused by aberrant immune responses to allergens.

134 DNA repair pathways are aberrant in cancer, enabling tumor cells to survive stan

135 ring virion maturation by inducing hyper- or aberrant IN multimerization but are largely ineffective

136 ith behavioral and autonomic responses), and aberrant, increased activation of the ventral striatum,

137 e, and persistent motor habits reinforced by aberrant, increased phasic DA responses.

138 athologies with a focus on those mediated by aberrant inflammation and immune dysfunction.

139 eatening bacterial and fungal infections and aberrant inflammation.

140 ne B cells and discovered that RAG1/2 causes aberrant insertions by releasing cleaved antibody gene f

141 These findings robustly demonstrate aberrant interactions of stress and reward networks afte

142 alternative stable conformations capable of aberrant interactions, links the tRNA synthetase family

143 er due to protein misfolding with consequent aberrant intermolecular protein aggregation.

144 ddition, they suggest a dissociation between aberrant internetwork connectivity as a distinctive feat

145 rocesses, but how miRNA circuits orchestrate aberrant intestinal inflammation during inflammatory bow

146 ABSTRACT: Aberrant intracellular Ca(2+) signalling contributes to

147 ty as a distinctive feature of psychosis and aberrant intranetwork connectivity as a transdiagnostic

148 However, it is unclear how aberrant ITS formation is suppressed in human cells.

149 poorer prognosis compared with other non-CBF aberrant karyotypes and led to lower remission rates (co

150 Aberrant KCC2 function contributes to human neurological

151 r lipid lamellae in the stratum corneum, and aberrant keratinocyte differentiation.

152 The aberrant kinase activity of Kit(mut) prevents its export

153 as positive for CD26 in combination with an aberrant lack of cKIT expression.

154 ell cycle regulator KIP-RELATED PROTEIN2 and ABERRANT LATERAL ROOT FORMATION4, resulting in a mass of

155 n shown to correlate with positive symptoms: aberrant learning for neutral cues (assessed with behavi

156 Such depletion also causes aberrant levels of DNA.

157 Taken together, our data suggests that aberrant levels of specific lncRNAs are intimately invol

158 This aberrant LGR4 expression is driven by IL-6/STAT3 signali

159 43's in vitro splicing activity and inducing aberrant localization and aggregation in cells.

160 strated that mtATP5alpha (AA42-72) showed an aberrant localization, and resulted in a decreased ATP p

161 t FAK(Y397) hyperactivation may underlie the aberrant mechanobiology of IPF fibroblasts.

162 Aberrant melanosomal morphology may potentially have con

163 Aberrant mesenchymal-epithelial transition factor (MET)

164 d from 5-azacytidine-treated patients lacked aberrant methylation and DNMTi treatment of primary MDS

165 ific effects play a strong role in recurrent aberrant methylation at specific CpG sites across differ

166 Aberrant methylation changes, often present in a minor a

167 a non-genetic biological mechanism underlies aberrant methylation in iPSCs and that it is likely base

168 mutations in several driver genes can cause aberrant methylation patterns, a hallmark of cancer.

169 To examine whether this aberrant methylation results from genetic variation or n

170 he MCT8-deficient cell population as well as aberrant migration of both early-born and late-born neur

171 not reach the orbit, resulting in secondary aberrant misinnervation of the lateral rectus muscle by

172 sis, and further establish the importance of aberrant mitochondrial signaling to the etiology of copp

173 wing cells with the capacity to withstand an aberrant mitogenic activity, with a profound impact on t

174 Our data suggest that aberrant molecular signals due to NF1 mutations may dist

175 HGAP21 enhanced Cdc42 activation and rescued aberrant morphogenic processes of PTEN-deficient culture

176 Tsc2-deficient mesenchymal progenitors cause aberrant morphogenic signals, and identify an expression

177 Cells lacking TbSmee1 contain HCs with aberrant morphology and show delayed uptake of both flui

178 nules, but those of the double mutant had an aberrant morphology.

179 ontrol (RQC), followed by degradation of the aberrant mRNA and polypeptide, ribosome disassembly and

180 found that the c.463-6T>G mutation leads to aberrant mRNA splicing, but no stable truncated protein

181 Neurons lacking FMRP show aberrant mRNA translation and intracellular signalling.

182 re well-understood, the molecular sensors of aberrant mRNAs and their mechanism of action remain unkn

183 ins and/or that NMD inactivation may lead to aberrant mRNAs leading to synthesis of malfunctioning DN

184 dendrite tip, resulting in the formation of aberrant MT loops.

185 is likely prevents formation of biologically aberrant multi-layered capsids in the virion.

186 Tom1 interacts with aberrant nascent peptides and is essential to limit thei

187 -bound quality control (RQC) complex detects aberrant nascent peptides that remain stalled in 60S rib

188 e vascular endothelial cell layer and by the aberrant nature of tumor blood vessels in general.

189 ephrin phosphosignaling dynamics, leading to aberrant nephrin turnover and slit diaphragm disassembly

190 regulation framework focuses more broadly on aberrant network connectivity, including between the pre

191 s in ASD are limited, and do not address the aberrant network structure.

192 dence suggests that Abeta is associated with aberrant neural activity, the relationships among these

193 Aberrant NMDA receptor (NMDAR) activity contributes to s

194 somes were detectable in 165/1026 (16.1%) of aberrant non-core-binding-factor (CBF) karyotype patient

195 sults have broad biological implications, as aberrant NOSTRIN expression leading to deactivation of t

196 for tissue development and maintenance, and aberrant Notch signaling has been implicated in various

197 Copy number variation of the UBE3A gene and aberrant overexpression of the gene product E6AP protein

198 nd provide more evidence for the notion that aberrant p53 signaling during embryogenesis leads to the

199 We found distinct gene-linked patterns of aberrant PAC in stg/stg and tg/tg mice compared to +/+ a

200 Aberrant PAD exposure induces a signaling cascade that l

201 chronic pain offer a novel interpretation of aberrant pain processing as disturbed weighting of predi

202 LINIs) or through mutations within IN yields aberrant particles in which the viral ribonucleoprotein

203 o directly impede transcription and overcome aberrant pathways in aggressive malignancies.

204 ession in Lsh-/- NSPCs and suggests multiple aberrant pathways.

205 BRWD3 results in altered gene expression and aberrant patterns of histone H3 Lys27 acetylation at enh

206 ew, we highlight some recent work that shows aberrant patterns of RNA editing in cancer.

207 ibosome-unbound complex during the escort of aberrant peptides to the proteasome.

208 h often displayed excessive firing rates and aberrant phase-locked firing to cortical beta oscillatio

209 Broadly, our results implicate aberrant PKA signaling in the pathogenesis of hematologi

210 this, bone marrow chimera studies show that aberrant Pkhd1 must be expressed in the target tissue (c

211 A novel NOD congenic mouse expressing aberrant Pkhd1, but lacking the c3 and c4 chromosomal re

212 in place to trigger the rapid degradation of aberrant polypeptides and mRNAs.

213 The RQC complex polyubiquitylates aberrant polypeptides and recruits a Cdc48 hexamer to ex

214 re differentiation of radial glial cells and aberrant positioning of newborn neurons.

215 ts of AIPL1 variations, some of which induce aberrant pre-mRNA AIPL1 splicing leading to the producti

216 The environmental triggers of the aberrant presence of CD4(+) T cells in the CNS are not k

217 Furthermore, aberrant processing of HRR intermediates, and elevated H

218 Aberrant proliferation and activation of lung fibroblast

219 viously found that crescents derive from the aberrant proliferation and migration of parietal epithel

220 evelopment and maturation and by suppressing aberrant proliferation mediated by the T cell antigen re

221 nction increased autophagy and decreased the aberrant proliferation signaling caused by mutant p53.

222 ated a rapid disruption of crypt morphology, aberrant proliferation, cell-death activation, as well a

223 in hostile inflammatory signals generated by aberrant proliferation, necrosis, and hypoxia.

224 e an important therapeutic target to inhibit aberrant proliferation.

225 lethal phenotype, with the production of an aberrant proliferative neural population in surviving an

226 the immortal phenotype of stem cells and the aberrant proliferative potential of cancer cells.

227 Although aberrant promoter methylation was associated with altere

228 r at the molecular level, and importantly no aberrant protein expression.

229 ratus resulting in translational defects and aberrant protein production.

230 and alleles designed to be null can express aberrant proteins.

231 of SETX as a genome guardian in suppressing aberrant R-loop formation and analyse how SETX mutations

232 Indeed, in humans, aberrant recombination can lead to diseases such as canc

233 Endothelial dysfunction is characterised by aberrant redox signalling and an inflammatory phenotype.

234 Aberrant regulation of BCL-2 family members enables evas

235 In the intestinal epithelium, the aberrant regulation of cell/cell junctions leads to inte

236 Aberrant regulation of Eph/ephrin signaling pathways is

237 purpose of identifying therapies that target aberrant regulation of the mitochondrial dynamics machin

238 ales for immune responses to emerge, and how aberrant regulation of these processes causes disease.

239 Aberrant regulation of uterine cell growth can lead to e

240 (MEFs) resulted in increased tumour growth, aberrant remodelling of the extracellular matrix (ECM) a

241 Aberrant repair of stressed replication forks can result

242 Grossly aberrant responses to light included accentuated resetti

243 role for CAV1 down-regulation in linking the aberrant responsiveness to mechanical stimulation and ex

244 orting the feasibility of targeting RUNX1 in aberrant retinal angiogenesis.

245 Previous studies have implicated aberrant reward processing in the pathogenesis of adoles

246 These findings suggest aberrant ribonucleotide incorporation is a primary mtDNA

247 isocial behavior is often assumed to reflect aberrant risk processing.

248 calized in ugt80B1 mutants, underscoring the aberrant root epidermal cell patterning.

249 ic signalling is implicated may be caused by aberrant salience leading to a change in the nature of t

250 an impaired epidermal structure, ascribed to aberrant secretion of lamellar bodies, which are essenti

251 nts from the SEPT6 and SEPT7 groups leads to aberrant septin bundle formation and defects in cytokine

252 re autosomal recessive Mendelian disorder of aberrant sex steroid production.

253 elopment and signaling and to interfere with aberrant SFK signaling networks in cancer cells.

254 provokes striking nuclear defects including aberrant shapes, nuclear lamina disruption and reduction

255 s: (1) indistinguishable from wild-type; (2) aberrant shoot and/or root growth indicating possible pe

256 Aberrant signaling by the mammalian target of rapamycin

257 Blocking aberrant signaling from endosomes or reducing BMP activi

258 nd "classical" subtypes that are addicted to aberrant signaling from integrin alphavbeta3, which acti

259 Aberrant signaling of the FGF/FGFR pathway occurs freque

260 erapeutic and imaging strategies directed at aberrant signaling pathways in pancreatic tumor cells ma

261 r differentiated state and, thereby, inhibit aberrant signaling.

262 The consequences of aberrant signalling pathways or of altered expression of

263 Aberrant SKAP expression can prolong anaphase and this m

264 African USA300 isolates have aberrant spa-types (t112, t121) and form a monophyletic

265 The resulting aberrant sperm show histone retention, abnormal morpholo

266 ch is essential for brain functions, because aberrant spine morphology is associated with many neurop

267 RNA-seq analysis detected aberrant splicing in DONSON due to one of these noncodin

268 It is likely that aberrant splicing of genes expressed in motor neurons is

269 showed that these germline mutations caused aberrant splicing of the endogenous LGI4 transcript and

270 Numerous studies have indicated that aberrant splicing patterns or mutations in spliceosome c

271 Aberrant splicing patterns were rescued in DM1 cells, an

272 ormation on mutated, overexpressed genes and aberrant splicing, which can be exploited for personaliz

273 ell-based minigene splicing assay to confirm aberrant splicing.

274 ns and terminals, resulting in the rescue of aberrant striatal DA dynamics, reversal of characteristi

275 ectopic cellular behaviours to dismantle the aberrant structures.

276 High expression or aberrant subcellular distribution of Ape1 has been detec

277 Neural activity plays a key role in pruning aberrant synapses in various neural systems, including t

278 Our results suggest that this aberrant synaptic development of auditory brainstem circ

279 gh changes in chromatin accessibility and/or aberrant targeting of epigenetic complexes.

280 Clinical evidence suggests that aberrant tau accumulation in the locus coeruleus and nor

281 ollicular helper (TFH) cells, is critical as aberrant TFH cell expansion is associated with autoimmun

282 Congruent with the aberrant tissue repair in mice with deficient IL-4 signa

283 mmunication during HIV infection resulted in aberrant TNT cell-to-cell contact, compromising HIV spre

284 sources of endogenous lesions may arise from aberrant topoisomerase activity or ribonucleotide incorp

285 Although aberrant TRAF1 expression in tumors has been reported, t

286 Transcriptional dysregulation induced by aberrant transcription factors (TF) is a key feature of

287 development to protect genome integrity and aberrant transcription.

288 ations at enhancers which activate a common, aberrant transcriptional programme critical for CRC grow

289 o be recognized by CTLs, potentially through aberrant translation.

290 Moreover, we observed aberrant Tuj1(+) neuronal migration in RB-KO organoids a

291 nsable during BCC tumorigenesis and that its aberrant upregulation is likely a prerequisite for prima

292 We observed aberrant upregulation of Skp2, Ezh2 and histone H3 lysin

293 Taken together, our findings indicate that aberrant urea metabolism could be the primary biochemica

294 hared pleiotropic phenotypes, which included aberrant vascular formation in the root, indicating that

295 Aberrant ventral striatum functional connectivity specif

296 o disrupt endosomal compartments, leading to aberrant wiring defects.

297 Aberrant WNT signaling drives colorectal cancer (CRC).

298 in-coupled receptor 4 (LGR4) axis in driving aberrant Wnt/beta-catenin signaling in MM.

299 oma (ACC), a rare lethal malignancy in which aberrant Wnt/beta-catenin signaling is frequently detect

300 Most MMs display aberrant Wnt/beta-catenin signaling, which drives prolif