ライフサイエンスコーパス: defect

1 clefts (those occurring without other birth defects).

2 ut did not rescue the exit from pluripotency defect.

3 ng the EEF1A ortholog showing a major growth defect.

4 material along an edge or around a localized defect.

5 filing was conducted to confirm a CDG type I defect.

6 d brain development and behavioral and motor defects.

7 e rearrangements localized around structural defects.

8 e absence of the nose with or without ocular defects.

9 deletion, resulting in endocytic/trafficking defects.

10 ntramembranous and perichondral ossification defects.

11 and MET in the etiology of congenital heart defects.

12 s Gemin3 ortholog, MEL-46, ameliorates these defects.

13 eads to lagging chromosomes and spindle pole defects.

14 luenced, and can be judiciously tailored, by defects.

15 tion theory and the location of regions with defects.

16 lar hair cells, causing deafness and balance defects.

17 the action of drugs that repair CFTR gating defects.

18 requently associated with neurodevelopmental defects.

19 -0.789, P < 0.01) for the prediction of DMSA defects.

20 Fs in the pathobiology of inherited platelet defects.

21 try was used to assess for visual field (VF) defects.

22 2 murine knockouts caused cardiac conduction defects.

23 ilar to those proviruses that had no obvious defects.

24 ignificant amount of water in the form of OH defects.

25 of ONHD between patients with or without VF defects.

26 ited ORC-DNA binding showed helicase loading defects.

27 t syndrome exhibiting a range of ciliopathic defects.

28 with mutants' growth and reporter expression defects.

29 hies associated with pronounced neurological defects.

30 ic lethality associated with heart and brain defects.

31 pathways that essentially monitor DSB repair defects.

32 oxb8 mutants contain corticostriatal circuit defects.

33 differentiation independently of cell-cycle defects.

34 ents in the form of comet-shaped topological defects.

35 changes in tau transgene-induced behavioral defects.

36 ompromised ciliary beating and developmental defects.

37 , fetal growth retardation and developmental defects.

38 g the execution of therapy for both types of defects.

39 etal microcephaly and other neurodevelopment defects.

40 ors can be modulated by introducing specific defects.

41 ented, along with techniques to identify the defects.

42 yndrome (AGS), also display stapes and incus defects.

43 ith NAION, (3) a relative afferent pupillary defect, (4) observed optic disc swelling, and (5) no oth

44 n doses were compared and revealed efficient defect absorption in the nanocrystalline grain size regi

45 extrinsic CD4(+) T-cell defects and (2) how defects account for the clinical features of DOCK8 defic

46 In the present work it is shown that these defects also influence the photoluminescence properties

47 netic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients.

48 d dissociation experiments and Kendrick mass defect analyses corroborated that about 160 of the new p

49 id envelope leading to a severe skin barrier defect and premature death of newborn animals.

50 ne (1) intrinsic and extrinsic CD4(+) T-cell defects and (2) how defects account for the clinical fea

51 n expression contribute to GCp proliferative defects and cerebellar hypoplasia in GCp-specific Chd7 m

52 of PHF8 have been associated with cognitive defects and cleft lip/palate, its role in mammalian deve

53 the testing/screening method for neural tube defects and common chromosomal anomalies during prenatal

54 The types of defects and controllable strategies to generate defects

55 ield is due to domain wall pinning in deeper defects and hence a higher field E th is required for un

56 s expressing type I collagen led to skeletal defects and hypophosphatemia.

57 d long isoform results in vesicle clustering defects and increased synaptic depression.

58 ocal order from that observed in the bulk at defects and interfaces lead to significant compositional

59 nd recapitulates JBTS, including neural tube defects and polydactyly; however, the underlying defects

60 of the protein averts brain microvasculature defects and prevents disease, whereas augmenting the pro

61 K to 136 K) by improving in-plane electronic defects and reducing overall a-lattice parameter, it inc

62 y both terminal keratinocyte differentiation defects and strong type 2 immune responses.

63 wever, most of them only exhibit plastochron defects and/or produce a new, albeit equally reproducibl

64 ofiles, retention time characteristics, mass defect, and isotope/adduct patterns.

65 ing in Rbpr2 deficiency, exhibit a small eye defect, and systemic malformations including hydrocephal

66 lay phenotypes tightly associated with cilia defects, and cilia motility is lost in a number of cilia

67 al fibrillation, atrioventricular conduction defects, and death by 4 months of age.

68 c diet, the assumed lack of structural brain defects, and the potential existence of genotype-phenoty

69 to none impurities, and low microstructural defects, and without obvious interface between printed l

70 ations after birth, whereas TCblR/CD320 gene defects appear to produce mild metabolic changes.

71 These defects are ameliorated in older animals.

72 Neural tube defects are among the most common major congenital anoma

73 Quantum defects are an emerging class of synthetic single-photon

74 hogenesis in placodal neurons and that early defects are associated with ASD-associated mutations.

75 We determined that these defects are caused by hyperphosphorylation of the inhibi

76 Axonal transport defects are rescued by CRISPR/Cas9-mediated genetic corr

77 However, the mechanisms driving these defects are still unknown.

78 LMM area based on HRCM-RV findings, surgical defect area estimated by HRCM-RV, and observed surgical

79 estimated by HRCM-RV, and observed surgical defect area.

80 The mutant has no growth defect, arguing against ongoing restriction of its own D

81 cdk5r1a mutant larvae show similar branching defects as those observed in Cdk5 inhibitor-treated larv

82 Patient T cells had similar defects, as well as low production of the cytokine inter

83 The primary defect associated with the missense substitutions ranged

84 Understanding the risk of birth defects associated with Zika virus infection during preg

85 ) paste supported bone formation with a high defect bridging-rate.

86 lineage tenocytes are not recruited into the defect but transdifferentiate into ectopic cartilage; in

87 bute to the pathogenesis of congenital heart defects, but it is unclear whether individual common var

88 urons, also rescued the locomotion and motor defects, but not the defects in neuromuscular junction p

89 evaluated genetic instability and DNA repair defects by direct and indirect assays in 12 breast cance

90 These defects can be corrected by silencing the mitochondrial

91 iagnostic aspects of intrabony and furcation defects can be improved via the use of CBCT, limited evi

92 els have begun to elucidate how skin barrier defects can lead to systemic allergen sensitization.

93 Defects can only be corrected surgically and require com

94 while HK2 overexpression partly rescues the defects caused by suppression of FGF signalling.

95 ae are transparent and have severe adipocyte defects caused by up-regulation of beta-catenin transcri

96 creening on the spectrum of congenital heart defects (CHDs) later in pregnancy and on the outcome of

97 ults highlight the complex interplay between defect chemistry and defect dynamics in determining nano

98 teral decrease in vision, (2) a visual field defect consistent with NAION, (3) a relative afferent pu

99 ormation, elevation of Cyclin B, and meiotic defects consistent with premature PNG activation.

100 tering demonstrate a correlation between the defect content and the improved electrochemical performa

101 The K36M substitution and NSD1 defects converge on altering methylation of histone H3 a

102 cumulation of succinate due to the TCA cycle defect could be the major connecting hub between SDH-mut

103 Nonetheless, these defects could be overcome by early or prolonged exposure

104 implanted into rat critical-sized calvarial defects (CSD).

105 Surgery is offered for almost every heart defect, despite complexity.

106 NM2 knockdown can efficiently correct muscle defects due to loss of MTM1, providing an attractive the

107 Thus, cellular defects due to this ACTA2 mutation in both aortic smooth

108 mplex interplay between defect chemistry and defect dynamics in determining nanoparticle transformati

109 niques, in situ three-dimensional imaging of defect dynamics remains challenging.

110 stoichiometry introduce so-called intrinsic defects, e.g., atomic vacancies and/or interstitials.

111 To make the defect effect clearer, the recent development of this co

112 nd their coexistence is a promising route in defect engineering of MoS2 to fabricate suitable devices

113 d high-resolution mass spectrometry and mass-defect filtering to four PAH-contaminated samples from g

114 a function of the intensity of organoleptic defects for samples with high alkyl esters content.

115 per 0.1-unit increase in MI-ERR for overall defect-free care).

116 Combined immunodeficiency (CID) is a T-cell defect frequently presenting with recurrent infections,

117 Crystal defects generated during irradiation can result in sever

118 eeded to damage TMD-based electronics due to defects generated in common dielectric and substrate mat

119 HOMOLOG1 (LAZ1H1), causes vacuole morphology defects, growth inhibition, and constitutive activation

120 Neural tube defects, harms of treatment (twinning, respiratory outco

121 ma, because the basis for its transformation defect has not been apparent.

122 e limited information about their structural defects has been mapped to the HCM phenotype.

123 rity seem healthy, but a higher frequency of defects has been reported among ART-conceived infants, s

124 semiconductors, via careful manipulation of defects has led to extraordinary advances in microelectr

125 ne possesses uniform activity, while surface defects (i.e., few to multilayer step edges) give rise t

126 sed functionality could be linked to a major defect in CD4 binding induced by the replacement of H375

127 Ts1Rhr mice do not demonstrate a defect in glomerular refinement, suggesting that distinc

128 Identification of the underlying defect in Ig-MPGN could lead to improved treatment.

129 ional counterpart which can be realized as a defect in liquid crystals.

130 egut endoderm led to a specific and profound defect in lung development with lung buds failing to und

131 otypes with regard to macrophage invasion: a defect in matrix degradation, due to a disruption of pod

132 r tamoxifen, which rescued the NET formation defect in Mincle-/- neutrophils.

133 Similarly, neutrophils with a genetic defect in NADPH oxidase fail to induce either actin and

134 We report that CCRL2-deficient mice have a defect in neutrophil recruitment and are protected in 2

135 -/-) mice, C5-deficient mice had no apparent defect in platelet activation in vitro, and vessel wall

136 mutation in human STN1 engenders a selective defect in POLA2-binding and PP stimulation, indicating t

137 We recently identified a defect in repetitive firing of lower motor neurons as a

138 Finally, consistent with their defect in the cross-presentation of apoptotic cells, DC-

139 Surprisingly, these animals displayed a defect in the homeostatic maintenance of splenic CD8alph

140 t that CLYBL loss leads to a cell-autonomous defect in the mitochondrial B12 metabolism and that itac

141 nd gene expression analysis revealed a major defect in the proliferation, differentiation and mineral

142 To investigate the underlying genetic defect in three-generations of a Chinese family with aut

143 These include defects in (1) cardiac form and function, (2) craniofaci

144 ice exhibit cognitive alterations, including defects in a novel object recognition task.

145 R-ABL inhibitors in humans and developmental defects in Abl1 knockout mice, suggest that ABL1 has an

146 ly hearts overexpressing miR-1 have profound defects in actin filament organization that are partiall

147 ting the causative factors underlying memory defects in Alzheimer's patients.

148 MET-induced defects in anatomy result in defined functional lesions

149 e majority of human cancer cells that harbor defects in antiviral signaling, but a minority are nonpe

150 In addition, jagn-deficient embryos display defects in apical-basal spindle orientation in delaminat

151 -promoted axon repulsion in vitro and caused defects in axon projection of DRG toward the spinal cord

152 Two genes are synthetically lethal (SL) when defects in both are lethal to a cell but a single defect

153 was shown to produce chromosome segregation defects in cancer cells by inhibiting the correction of

154 An overview of the defects in carbon-based, metal-free electrocatalysts for

155 cts and polydactyly; however, the underlying defects in cilia signaling and the function of INPP5E at

156 ic short root anomaly (SRA) with no apparent defects in crown is close to 1.3%.

157 Genetic defects in DNA repair underlie other neurodegenerative d

158 ects and controllable strategies to generate defects in electrocatalysts are presented, along with te

159 he small and large intestines, but caused no defects in epithelial proliferation, barrier integrity,

160 ized that these patients might possess other defects in filaggrin expression and processing contribut

161 used to estimate the concentration of point defects in GaN.

162 Defects in genes of the Toll-like receptor 3 (TLR3) path

163 add additional evidence to the link between defects in genes that regulate ribosome synthesis and ri

164 o investigate the prevalence of visual field defects in glaucomatous eyes, glaucoma suspects, and ocu

165 phonon emission from individual atomic-scale defects in graphene.

166 which are the most common craniofacial birth defects in humans.

167 d spine plasticity and ameliorates cognitive defects in IL-1R8 KO mice.

168 nant CCL5 to C3aR-deficient mice rescues the defects in inflammatory cell recruitment and regeneratio

169 ments in CD4 T cell function but result from defects in innate immune cell recruitment and function.

170 We propose that defects in intron removal in SMA promote DNA damage in p

171 kinetochore, and its depletion causes severe defects in karyokinesis, loss of individual chromosomes,

172 le photon emitters were reported from atomic defects in layered hexagonal boron nitride (hBN), but co

173 show that absence of Ldo proteins results in defects in LD morphology and consumption by lipophagy.

174 romised hypothalamic function and subsequent defects in maintaining whole-body energy balance might b

175 al-free electrocatalysts for ORR and various defects in metal oxides/selenides for OER is also provid

176 lasticity.Disclination lines are topological defects in molecular orientation widely found in liquid

177 tivities, impaired muscle grip strength, and defects in motor coordination.

178 Deep-level defects in n-type GaAs1-x Bi x having 0 </= x </= 0.023

179 in the presence of monensin phenocopied the defects in Napa(hyh/hyh) signaling and Treg differentiat

180 he locomotion and motor defects, but not the defects in neuromuscular junction physiology.

181 nexin 26 and connexin 30 genes, we show that defects in nonsensory cells prevented the functional mat

182 hanisms for controlling self-reactivity, and defects in one or more of these mechanisms can lead to a

183 s outgrowth of PKD cell lines, which exhibit defects in PC1 expression and collagen compaction.

184 hat the absence of HID-1 results in specific defects in peptide hormone and monoamine storage and reg

185 We identified individual and shared defects in PLP1 mRNA expression and splicing, oligodendr

186 ng in either C2A or C2C failed to rescue two defects in PM lipid homeostasis observed in E-Syts KO ce

187 verse their moving direction and show severe defects in S-motility.

188 h, and reveal the aetiology of axon-guidance defects in sax-3/Robo and vab-1/EphR mutants.

189 The fact that defects in signaling can lead to malignancy illustrates

190 Investigation of topological defects in soft anisotropic materials enables one to bet

191 s, loss of individual chromosomes, and gross defects in spindle assembly or stability.

192 Defects in stress granule homeostasis constitute a corne

193 but not into the cerebellum, indicating that defects in striatal neurons favor the appearance of dyst

194 Defects in T cell receptor (TCR) repertoire are proposed

195 ely to contribute to atopic disease, whereas defects in TH1 and TH17 cells compromise antiviral and a

196 ctively, and that suppression corresponds to defects in the accumulation of viral cDNA in the nucleus

197 potential target to ameliorate neurogenesis-defects in the aging hippocampus.

198 acterization indicates that these structural defects in the antiferromagnetic layer are behind the re

199 Despite the high incidence of severe defects in the central nervous system caused by human cy

200 Robust phenotyping approaches sensitive to defects in the CTLA-4 pathway are therefore required to

201 These taurodont teeth form due to defects in the direction of extension of the HERS from t

202 drome model mice, which provide insight into defects in the function of neural circuits in vivo and p

203 y could however not be linked to any editing defects in the nad2 transcript.

204 Defects in the repair of DNA interstrand crosslinks (ICL

205 of EDE1 results in fewer CME initiations and defects in the timing of vesicle maturation.

206 Defects in these events are thought to contribute to sev

207 atation and disorganization, associated with defects in this additional CNM-associated gene provide a

208 Defects in this BM lead to muscle fiber damage from the

209 dics, we study the cross-talk of topological defects in two different material fields-the velocity fi

210 Not only could we reliably predict these defects in up to 38% of tested conditions, but we could

211 isms, whereby mutations of HNF-1beta produce defects in urinary concentration.

212 Deletion of the MoVRP1 gene resulted in defects in vegetative growth, asexual development, and i

213 ups died at birth due to severe craniofacial defects including bilateral cleft lip and palate and ton

214 ition characterized by a range of anatomical defects, including cardiomegaly, hyperflexibility of the

215 illain-Barre syndrome and fetal neurological defects, including microcephaly, has prompted intense ef

216 ted individuals did not display ciliogenesis defects, indicating that MAPKBP1 may represent a new fam

217 actor Prp43 suppresses H2A.Z-mediated splice defects, indicating that, in the absence of H2A.Z, stall

218 ith adjacent muscle and skin to restore bone defects, internal lining, and external coverage.

219 This defect is associated with slowed nerve conduction, which

220 Biochemical analysis suggests that this defect is multileveled, including changes in expression

221 ts in both are lethal to a cell but a single defect is non-lethal.

222 How ER shaping is linked to neuronal defects is poorly understood.

223 s, such as found at atomic steps and surface defects, is firmly established.

224 Oocyte defects lie at the heart of some forms of infertility an

225 nterior regions of the material by including defect lines-dislocation loops-that are unique to three

226 lex pathway by which very different types of defects may be related across the nematic-smectic A phas

227 sensory systems in DS model mice, that such defects may contribute to functional impairment in DS, a

228 udy using data from the North Carolina Birth Defects Monitoring Program, North Carolina Department of

229 t mice neither display obvious developmental defects nor signs of cognitive impairment.

230 tus in early pregnancy can cause neural tube defects (NTDs) in embryos by perturbing protein activity

231 ology and mitochondrial retrograde transport defects observed in actr10 mutants are distinct from dyn

232 Structural defects observed in the postsynaptic compartment of muta

233 g programs between phyla, most developmental defects observed in vertebrate mutants are related to ot

234 ession in yeast complemented copper-specific defects observed upon deletion of PIC2 Additionally, ass

235 tic potential to identify patients with a CI defect of Mendelian origins, whilst highlighting the nec

236 AMD1 but not un-editable allele rescued the defects of amd1 in ascospore discharge.

237 largely ameliorates the airway morphogenesis defects of grh mutants.

238 ee joints of experimental rats and calvarial defects of Jax mice.

239 neuroprogenitors, mimicking differentiation defects of Mcph1-knockout neuroprogenitors.

240 wires and junctions can be isolated in line defects of other transition metal dichalcogenides, which

241 was completely dispensable, with all stress defects of Sty1-deficient cells being suppressed by expr

242 the TOR signaling pathway rescued the midgut defects of the Atg9 mutants.

243 stem cells were implanted into osteochondral defects of the knee joints of experimental rats and calv

244 Accordingly, the metabolic defects of the mice lacking furin in osteoblasts became

245 Structural defects often dominate the electronic- and thermal-trans

246 runcating variants in GLI1 and developmental defects overlapping with Ellis-van Creveld syndrome (EvC

247 al of Raptor in tendons caused severe tendon defects postnatally, including decreased tendon thicknes

248 Mitochondrial and enzyme defects predominate as disease-related etiologies.

249 importance, the mechanism(s) underlying this defect remains unclear.

250 The CNS myelination defect results from a cell-autonomous requirement for TH

251 ts phenocopy blood and/or lymphatic vascular defects seen in Fgfr1/Fgfr3 double mutant mice, while HK

252 ose downregulation coincides with cell cycle defects, senescence and/or apoptosis.

253 ar explanation for the resolution of palatal defects, showing that Eda and Edar-related genes are exp

254 rkl in the mouse model induced developmental defects similar to those observed in patients with conge

255 feed side of a membrane system and seal the defect site because of increased hydraulic drag through

256 r cargo delivery at locations of microtubule defect sites in vivo.

257 ally paradigm-changing mechanisms enabled by defects, size effects, critical phenomena, anharmonicity

258 al and peripheral EVC following visual field defects specifically affecting central or peripheral vis

259 phan (KT) ratio, a marker of adaptive immune defects, strongly predicts mortality during treated huma

260 Crystallographic defects such as dislocations can significantly alter mat

261 face layer and the mass deficit due to point defects such as impurities and vacancies must be investi

262 versatile tool to guide the self-assembly of defects such as scars, pleats, folds, blisters, and liqu

263 during extended electrical stress and create defects such as vacancies.

264 This implementation exploits a defect, such as a constriction in the magnetic track, th

265 The progressive and early onset of these defects suggest a primary myopathy in HD.

266 these mutants also display yolk sac vascular defects, suggesting a role for thrombin signaling in ves

267 d of TAG hydrolysis show spore wall assembly defects, supporting a role for TAG and/or its metabolite

268 LGO has a much lower density of defects than GO prepared using the conventional Hummers'

269 thelia also display specific differentiation defects that are mimicked by loss of the transcription f

270 However, the specific defects that lead to hearing loss have not been describe

271 lls exhibit previously unappreciated mitotic defects that likely contribute to HPV-mediated cancer pr

272 t cells with E9591 or LMT generated cellular defects that mimicked deficiencies in mitochondrial Fe-S

273 How RASA1 mutations lead to the LV leakage defects that occur in CM-AVM is not understood.

274 on reduces or delays many of the age-related defects that occur in rodent skeletal muscle.

275 and TWIST1 contribute to human craniofacial defects, this gene-gene interaction may have implication

276 utations and further link cellular transport defects to ALS.

277 tal cerebral T2* in 28 fetuses without heart defects to that of 15 fetuses with major heart defects:

278 utations but often arise through replication defects; transcription can interfere with replication fo

279 fects to that of 15 fetuses with major heart defects: transposition of the great arteries (n=7), coar

280 ombination in mandibular degree II furcation defect treatment in comparison with PRF and access thera

281 Furcation defect treatment with autologous PRF combined with 1% AL

282 e-one of the most common of congenital birth defects-treatment following surgery is prolonged over a

283 Despite recent progress in imaging defects using electron and X-ray techniques, in situ thr

284 This defect was associated with a decreased production of IL-

285 This defect was rescued by bone marrow exosomes from WT, but

286 To explain the basis of this defect, we tracked the fates of multiple viral component

287 Eyes with and without VF defects were compared with regard to retinal nerve fiber

288 Both mitochondrial and barrier defects were largely corrected by targeting Stard7 to mi

289 The mTORC1 and IFN-gamma production defects were partially rescued by supplementation with g

290 Notably, proliferation defects were rescued upon the reexpression of wild-type

291 Intrabony and furcation defects were the two most commonly discussed bony defect

292 The motor defects were worsened by mecamylamine, a selective nicot

293 ts were the two most commonly discussed bony defects when comparing efficacy of CBCT versus intraoral

294 ociated kinase (ROCK) prevented cytoskeletal defects, while inhibiting myosin light chain kinase or p

295 stic RPE-tears, another atypical form of RPE-defect with overlying preserved photoreceptor layers are

296 Closure of atrial septal defect with the AMPLATZER Septal Occluder is safe and ef

297 orrelate chemical order/disorder and crystal defects with material properties at the single-atom leve

298 nsCL/P) is among the most common human birth defects with multifactorial etiology.

299 te and epinephrine, but variable aggregation defects with other agonists.

300 -depleted strain reveals a global elongation defect, with abundant ribosomes stalling at many sequenc