ライフサイエンスコーパス: cleft

1 of excitatory amino acids from the synaptic cleft.

2 Sec170 and the amino acid group with a polar cleft.

3 in scoop loop from the F pocket of the MHC-I cleft.

4 multiple cationic regions of the active-site cleft.

5 substrate moves deeper into the active site cleft.

6 Cel7B makes its catalytic domain a more open cleft.

7 rine proteases (granzymes) into the synaptic cleft.

8 neurotransmitter reuptake from the synaptic cleft.

9 ing its side chain into the ribosomal A-site cleft.

10 nsistent with alkalinization of the synaptic cleft.

11 reports regarding OHRQoL in individuals with cleft.

12 ted by chloride binding at the intracellular cleft.

13 HF remains weakly bound in a widened binding cleft.

14 second encapsulation in its urea-based inner cleft.

15 nding site is a shallow groove rather than a cleft.

16 ductive H(2) elimination from the bimetallic cleft.

17 d creates resistive coupling at the synaptic cleft.

18 interactions throughout the peptide-binding cleft.

19 xclusively localize to the substrate-binding cleft.

20 mp and stalk domains to open the DNA binding cleft.

21 -wide association study of nonsyndromic oral clefts.

22 cular and cellular mechanisms of soft palate clefts.

23 are located in hollows, largely within these clefts.

24 vere level of calcifications and cholesterol clefts.

25 no acid polymorphisms in the antigen-binding clefts.

26 isk in unaffected relatives of children with clefts.

27 ects than variants associated with syndromic clefting.

28 al sample included 1,875 cases with isolated clefts, 459 cases with nonisolated clefts, and 3,749 con

29 o distinct globular subdomains bisected by a cleft, a fold with strong homology to substrate-binding

30 ssels, hypoplastic left heart syndrome, oral cleft, abdominal wall defect).

31 The dogma that the synaptic cleft acidifies during neurotransmission is based on the

32 can depolarize horizontal cells and increase cleft acidity via Na+/H+ exchanger (NHE) proton extrusio

33 ter release per se, a result consistent with cleft alkalinization being driven by the Ca(2+)/H(+) ant

34 ammalian central synapse, similarly revealed cleft alkalinization during burst firing in both males a

35 erent non-ribbon type synapses, suggest that cleft alkalinization during neurotransmission, rather th

36 substrate positioning within the active-site cleft and a concomitant increase in the Lewis acidity of

37 w mannopentaose bound across the active site cleft and a decreased affinity for galactose in the -2 s

38 YaaA has a positively charged cleft and a helix-hairpin-helix DNA-binding motif found

39 ues were oriented toward the peptide-binding cleft and away from KIR3DL1.

40 lular spaces, specifically the intercellular cleft and bulk interstitial space, in a novel computatio

41 requency of quanta released, elevates [K(+) ]cleft and depolarizes the afferent to potentials at whic

42 ged POmega-2 residues protruded out from the cleft and directly impacted KIR3DL1 engagement.

43 BAR)-mediated HCO3- efflux, alkalinizing the cleft and disinhibiting cone CaV channels.

44 ix2 (-/-) embryos resulted in midline facial cleft and frontal bone agenesis.

45 ltiple areas in the IPS, in the adjoining PO cleft and in the annectant gyrus, with differential stai

46 n a flexible loop over the substrate-binding cleft and modulate the second coordination sphere of the

47 c linker may partially cover the active site cleft and pull it close to the membrane surface, where c

48 and stabilize the DNA exiting the catalytic cleft and recruit FEN1 to one unoccupied monomer in a to

49 urotransmitter dopamine (DA) in the synaptic cleft and recycles DA for storage in the presynaptic ves

50 ts monomer-monomer protofilament interaction cleft and that this interaction is favored for C. cresce

51 ey structural features: the nonprime binding cleft and the oxyanion hole are stabilized, and the effe

52 usion of neurotransmitters from the synaptic cleft and the volume transmission of transmitters.

53 in human MSX1 have been linked to orofacial clefting and we show here that Msx1 deficiency causes a

54 or subluxation in 5 eyes, and cyclodialysis clefts and hypotony in 2 eyes.

55 Orofacial clefts and their management impose a substantial burden

56 ied in patients with rare atypical orofacial clefts and with syndromic cleft lip and/or palate (CL/P)

57 ncluding skull bone agenesis, midline facial cleft, and syngnathia.

58 isolated clefts, 459 cases with nonisolated clefts, and 3,749 controls.

59 es, such as ectodermal dysplasias, orofacial clefts, and other craniofacial and dental anomalies.

60 Binding at this cleft appears to enable CE1 activities on polymeric arab

61 Orofacial clefts are common developmental disorders that pose sign

62 posite sides of the murine Esco2 active site cleft, are critical for catalysis.

63 by interactions along the substrate binding cleft as well as selective stabilization of reaction int

64 cal changes requires both spatially resolved cleft as well as whole cell level descriptions.

65 s accommodate the arabinoxylan backbone in a cleft at the CE1-CBM48 domain interface.

66 A prominent negatively charged cleft at the center of the complex is likely involved in

67 The site forms a cleft at the edge of a conserved ~30-residue active-site

68 The catalytic site resides in a cleft at the interface between adjacent trimer subunits,

69 hat the glycosidase active site resides in a cleft at the interface between two adjacent subunits whe

70 into human trials that can correct orofacial clefts at earlier stages of development.

71 TRPs are tetrameric, with large clefts at the interfaces between subunits; cholesterol p

72 with phenylalanine residues in a hydrophobic cleft between adjacent tubulin dimers.

73 on of Na(+) nanodomains in the intercellular cleft between cells.

74 rystal structures the SAP domain engages the cleft between NBD subdomains Ia and IIa, stabilizing the

75 The FTL motif binds at a cleft between the voltage-sensing and pore domains and a

76 rare dual topology architecture and reveal a cleft between two helices that provides accommodation in

77 ing glutamate residues of TSP1, located in a cleft between two trimer subunits, Glu456 and Glu483, un

78 ces, where the anions reside in equidistant "clefts" between coordinating diglycolamide ligands in po

79 conformation is attained with the help of a cleft-blocking domain that interacts with the active sit

80 MHC directly exporting TCR into the synaptic cleft, but incorporation of other effectors is unknown.

81 d EF unfold and dock into a deep amphipathic cleft, called the alpha clamp, which resides at the inte

82 hat narrowing the width of the intercellular cleft can suppress APD prolongation and EADs in the pres

83 Positioning of promoter DNA into the cleft closes it while maintaining the TFEalpha interacti

84 This 'energy cleft' concept allows us to combine the amplification an

85 boring positions in the modeled outward-open cleft contribute to one low-affinity binding site, where

86 ain as an extension of the substrate-binding cleft, contributing to galactomannan preference.

87 A chemical pH indicator targeted to the cleft corroborated these findings.

88 Mxra8 binds by wedging into a cleft created by two adjacent CHIKV E2-E1 heterodimers i

89 mmonly used surgical methods used to correct cleft defects postnatally.

90 roaromatic linkers nestle within an aromatic cleft defined by F583 and F643, and different aromatic l

91 ps of promoter melting occur within the RNAP cleft, delineate key roles for fork-loop 2 and switch 2-

92 de syndrome, an autosomal dominant orofacial clefting disorder.

93 (2+)] but not at Ca(2+) levels in the dyadic cleft during systole.

94 ons accumulate in diffusion-limited synaptic clefts during ongoing activity.

95 copies of each subunit, with a pair of deep clefts each containing two catalytic sites appropriately

96 ide intercellular clefts, whereas for narrow clefts, EADs were suppressed.

97 that KCNE1 is displaced within the channel's cleft early during activation, or that conformational ch

98 Mutation of arginine 179 in this cleft eliminates heme binding to DppA and prevents heme

99 ic orbitals are oriented into the bimetallic cleft, enabling metal-metal cooperative 2 e(-) substrate

100 ates one sulfate in its thiourea-based outer cleft, followed by a second encapsulation in its urea-ba

101 om, revealing an extensive elongated binding cleft for the donor (-4 to -1) substrate and a short acc

102 of packaged neurotransmitters into synaptic clefts for onward neural signalling.

103 Agd3 includes an elongated substrate-binding cleft formed by a carbohydrate binding module (CBM) that

104 stinct but overlapping sites in an elongated cleft formed by the handle, helical and central domains.

105 The level at which this cleft forms is a topic of discussion and interest, with

106 In the synaptic cleft free nanodiffusion is decelerated by 46%.

107 Gingival clefts (GCs) develop frequently during orthodontic space

108 n the dyadic cleft, which include changes in cleft geometry and channel placement.

109 ing on synaptic transmission at the level of cleft glutamate to investigate properties of the release

110 (RdRP) domains form a conserved interdomain cleft harboring the coiled-coil domain of hSTAT2, thus p

111 dues, both buried within the peptide-binding cleft, HLA-B*57:01 more potently inhibited NK cell activ

112 of the oligosaccharides into the active site cleft imposes a sharp kink within the central GlcNS-GlcA

113 n and risk of cardiac malformations and oral cleft in children of exposed mothers.

114 he activation loop and the substrate-binding cleft in GAC are allosterically coupled and that this co

115 g studies predicted a distinct heme-specific cleft in the binding pocket, and using SPR competition a

116 erminal sequence of the Grp94 N domain and a cleft in the M domain.

117 ance of "egg-yolk lesions," the OCT showed a cleft in the outer retina, creating an apical and basal

118 - the disruption of which leads to orofacial clefting in human patients.

119 Tbx22, have been associated with soft palate clefting in humans and mice, suggesting that they play i

120 Orofacial clefting includes several distinct anatomic malformation

121 rmining residues within the kinase catalytic cleft, including an unappreciated role for the kinase be

122 d granzyme B, are secreted into the synaptic cleft inducing target cell death.

123 de interactions throughout the MHCII-binding cleft influence both the rate of peptide dissociation fr

124 Asn-137 form a highly conserved hydrophobic cleft interacting with the core trisaccharide.

125 hereas arginine 440 located distantly in the cleft is critical for MPP(+) binding to another low-affi

126 latent conformation in which the active-site cleft is occluded supporting the requirement for an allo

127 dates the mechanism by which the DNA binding cleft is opened during transcription initiation in the s

128 ack, but its spatial profile in the synaptic cleft is unknown.

129 The etiology of orofacial clefting is multifactorial, including genetic or environ

130 Orofacial clefting is the most common congenital craniofacial malf

131 dy of the underlying etiology of soft palate clefts is an emerging field.

132 canal epithelia, the [K(+) ] in the synaptic cleft ([K(+) ](c) ) contributes to setting the hair cell

133 the potassium concentration in the synaptic cleft, [K(+) ](c) , which regulates potassium-sensitive

134 synaptic-like contacts: narrow intercellular cleft, keratinocyte synaptic vesicles expressing synapto

135 el, the Ltp2 active site formed an elongated cleft large enough to accommodate 17-HOPC-CoA.

136 ange the architecture of the peptide-binding cleft, leading to differences in peptide presentation an

137 Soft palate clefting leads to muscle misorientation and oropharyngea

138 transmission itself can acidify the synaptic cleft, likely due to the corelease of protons and glutam

139 ork has focused on the molecular etiology of cleft lip and clefts of the hard palate, but study of th

140 ere craniofacial defects including bilateral cleft lip and palate and tongue agenesis, following the

141 These mutants developed median cleft lip and palate demonstrating a previously undocume

142 y drain saliva, and patients with the common cleft lip and palate have a higher prevalence of dental

143 20 patients with complete unilateral cleft lip and palate were prospectively recruited.

144 eal pterygium syndrome, 2 syndromic forms of cleft lip and palate.

145 factor Esrp1 have fully penetrant bilateral cleft lip and palate.

146 atypical orofacial clefts and with syndromic cleft lip and/or palate (CL/P).

147 Patients with cleft lip and/or palate (CLP), who undergo numerous medi

148 expression of genes previously implicated in cleft lip and/or palate, including components of multipl

149 The cleft lip area, bilateral nostril areas, and the nostril

150 rther investigated the mechanisms leading to cleft lip as well as cleft palate in both existing and n

151 showcase DOT by analyzing breast cancer and cleft lip data, in which our method strengthened levels

152 t MSX1 mutations could increase the risk for cleft lip formation by interacting with an impaired morp

153 Cleft lip is one of the most common human birth defects.

154 c orofacial clefts (NSOFCs) are nonsyndromic cleft lip only (NSCLO), nonsyndromic cleft lip with pala

155 ementation in utero can partially rescue the cleft lip phenotype.

156 e remain a limited number of mouse models of cleft lip that can be leveraged to characterize the gene

157 formation, Msx1-deficient embryos develop a cleft lip when the mother is transiently exposed to redu

158 MP4 and GREM1) specifically for nonsyndromic cleft lip with cleft palate.

159 identified in several GWAS for non-syndromic cleft lip with or without cleft palate (NS CL/P).

160 Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a com

161 Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among

162 ion analyses for cleft palate only (CPO) and cleft lip with or without palate (CL/P) with ~17 million

163 Cleft lip with or without palate (CLP) and isolated clef

164 Non-syndromic cleft lip with palate (NSCLP) is the most serious sub-ph

165 ndromic cleft lip only (NSCLO), nonsyndromic cleft lip with palate (NSCLP), and nonsyndromic cleft pa

166 We named this new Mendelian syndrome CATIFA (cleft lip, cataract, tooth abnormality, intellectual dis

167 Patients with cleft lip/palate (CLP) have been reported, in some studi

168 We identified a novel mouse mutant (cleft lip/palate, edema and exencephaly; Clpex) with a h

169 e been associated with cognitive defects and cleft lip/palate, its role in mammalian development and

170 mutations because of increased intercellular cleft Na(+) ion depletion.

171 Thus, we predict that intercellular cleft Na(+) nanodomain formation and collapse critically

172 stent with the conclusion that intercellular cleft narrowing or expansion regulates APD prolongation;

173 ous sub-phenotype of non-syndromic orofacial clefts (NSOFC), which are the most common craniofacial b

174 rved in patients with nonsyndromic orofacial clefts (NSOFCs) are nonsyndromic cleft lip only (NSCLO),

175 Opening of the DNA binding cleft of cellular RNA polymerase (RNAP) is necessary for

176 two tyrosines located within the interdomain cleft of Galphai.

177 d contained the Asp (K82D) found in the beta cleft of Hb Providence; and the third had both of these

178 ubresidue isomers located within the binding cleft of lysozyme and those produced from an amyloid-bet

179 lex formation by locking the syntaxin-1 in a cleft of Munc18-1.

180 ed conformation within the substrate-binding cleft of OGA.

181 analyses revealed that the substrate-binding cleft of PPEP-1 is shaped complementarily to the major c

182 the Gag cleavage sites within the catalytic cleft of protease.

183 The nucleic-acid-binding cleft of RNAP samples distinct conformations, suggesting

184 units of RNAP and transiently widen the main cleft of RNAP to facilitate DNA promoter entering and fo

185 of irf6 and esrp1/2 in zebrafish resulted in cleft of the anterior neurocranium.

186 etween this repeat region and a well-defined cleft of the C-terminal domain.

187 crucial in the formation of the active site cleft of the enzyme.

188 smembrane segment is shorter and the bilobed cleft of the glycine-binding domain in GluN1 is more clo

189 The esrp1/2 mutant also developed cleft of the mouth opening.

190 nal tail (CTT) that extends towards the mRNA cleft of the ribosome.

191 ation, rather than acidification, within the cleft of two different neuronal synapses encourages a re

192 Clefting of the secondary palate is one of the most comm

193 esulted in palatal shelf elevation delay and clefting of the secondary palate.

194 hypoplasia of the second cervical vertebra, clefting of the twelfth thoracic vertebra, diminutive th

195 the structural differences in the catalytic clefts of ARSs from pathogens and humans.

196 he molecular surfaces of the antigen-binding clefts of HLA-DQ2.5 and HLA-DQ2.2 are very similar, diff

197 ndividuals presenting congenital conditions (clefts of the first cervical vertebra).

198 rnal nasal fossa, retained deciduous canine, clefts of the first cervical vertebra, unilateral hypopl

199 d on the molecular etiology of cleft lip and clefts of the hard palate, but study of the underlying e

200 Nonsyndromic clefts of the lip and palate are common birth defects re

201 Clefts of the palate and/or lip are among the most commo

202 not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defect

203 es, the lack of a pronounced peptide-binding cleft on the catalytic subunit of PPPs suggests that the

204 ent between the tip of the myosin head and a cleft on the innermost edge of actin subunits.

205 finger loop of betaarr1 occupies a narrower cleft on the intracellular surface, and is closer to tra

206 isk of dental decay in individuals with oral clefts or their unaffected relatives is still open for e

207 ip with or without palate (CLP) and isolated cleft palate (CP) are common human developmental malform

208 Cleft palate (CP) is one of the most common craniofacial

209 Cleft palate (CP) is the second most common congenital b

210 Cleft palate (CP), one of the most common congenital con

211 for non-syndromic cleft lip with or without cleft palate (NS CL/P).

212 Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect with a co

213 Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human bir

214 at variations in this gene underlie not only cleft palate and BCD but may be expanded to a broader ve

215 been implicated in human diseases including cleft palate and blepharocheilodontic (BCD) syndrome alb

216 Cs), and deletion of Rbfox2 in NCCs leads to cleft palate and defects in craniofacial bone developmen

217 ing with craniofacial dysmorphisms including cleft palate and hypodontia, as well as congenital cardi

218 Seven patients presented a cleft palate and two also had an omphalocele, reproducin

219 In humans, ankyloglossia and cleft palate are common congenital craniofacial anomalie

220 e and Has2(f/f);Osr2-Cre mutant mice exhibit cleft palate at complete penetrance, the Has2(f/f); Wnt1

221 lities from partial reduction of ADAMTS9 and cleft palate from loss of ADAMTS20 and partially reduced

222 e mechanisms leading to cleft lip as well as cleft palate in both existing and new Esrp1 mutant mouse

223 that mutations in FOXF2 are associated with cleft palate in humans and mice and that Foxf2 acts in a

224 Cleft palate is a common major birth defect resulting fr

225 Cleft palate is among the most common structural birth d

226 nducted genome-wide association analyses for cleft palate only (CPO) and cleft lip with or without pa

227 ft lip with palate (NSCLP), and nonsyndromic cleft palate only (NSCPO).

228 We found that cleft palate pathogenesis in Pax9-deficient embryos is a

229 ized Pax9(-/-) mouse model with a consistent cleft palate phenotype to test small-molecule Wnt agonis

230 Otitis Media with Effusion in Children with Cleft Palate study scoring system; risk of bias and stud

231 ing seizures, dysmorphic facial features and cleft palate through an unknown mechanism.

232 ive surgeries that individuals with isolated cleft palate undergo are associated with major costs and

233 e genetic underpinnings of ankyloglossia and cleft palate will be an important step toward rational t

234 This resulted in ankyloglossia and cleft palate with 100% penetrance in embryos examined af

235 elopment, and Tgf-beta3 null mutants develop cleft palate with 100% penetrance.

236 uced mandible size and about 50% of them had cleft palate with disruption of palatal shelf elevation.

237 and as Gad1-/- mice die neonatally of severe cleft palate, it has not been possible to determine any

238 evelopmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele.

239 from UTX mutation, including fully penetrant cleft palate, mandible hypoplasia and deficits in crania

240 , results in micrognathia, glossoptosis, and cleft palate, mimicking the phenotype of Pierre Robin se

241 Unfortunately, for patients with cleft palate-one of the most common of congenital birth

242 congenital diseases such as spina bifida and cleft palate.

243 n palate development and the pathogenesis of cleft palate.

244 alate, and knockout animals develop an overt cleft palate.

245 howed abnormal palate rugae but did not show cleft palate.

246 and altered jaw skeletal differentiation and cleft palate.

247 specifically for nonsyndromic cleft lip with cleft palate.

248 niofacial anomalies such as micrognathia and cleft palate.

249 ts in various skeletal deformities including cleft palate.

250 letal abnormalities, dysmorphic features and cleft palate.

251 elevation delay with incompletely penetrant cleft palate.

252 opulation will yield additional insight into cleft pathogenesis.

253 encoded fluorescent pH indicators to examine cleft pH at conventional neuronal synapses.

254 Cleft pH transients were dependent on Ca(2+) movement ac

255 Since the locked glutamate-binding clefts primarily contributes to receptor efficacy these

256 that alkalinization also occurred within the cleft proper at the active zone and not just within extr

257 strate that changes in the size of the D3-D4 cleft provide a structural basis for the conformational

258 ly detailed concentration dynamics in dyadic clefts, rabbit membrane potential dynamics, and a system

259 d site-directed mutagenesis, we identified a cleft region within the extracellular loop of the delta-

260 and structural similarity in the NES-binding cleft region, (Sc)CRM1 exhibits 16-fold lower binding af

261 In the cleft region, no significant differences were seen in pr

262 owever, differences in the substrate-binding clefts result in distinct enzyme-substrate interactions.

263 cranial neural crest cells revealed that the cleft resulted not from migration defect, but from impai

264 Analysis of aberrant cells within the cleft revealed expression of sox10, col1a1 and irf6, and

265 he HLA-DRB1*15:01 and HLA-DRB1*04:01 binding clefts revealed that clozapine and olanzapine bind in a

266 rate uncovered a conserved substrate binding cleft (SBC) in MAGEs.

267 he activation loop and the substrate-binding cleft, separated by ~16 angstrom.

268 uanine base specificity, while a 7- angstrom cleft separates SAMHD1 residues from dNTP bases, abolish

269 future therapies could target intercellular cleft separation as a compliment or alternative to sodiu

270 Further, Irf6 heterozygosity reduced Esrp1/2 cleft severity.

271 ysis demarcated GLI3 presence in the binding cleft shared by inter-bladed binding grooves of beta-pro

272 lular electric field coupling, intercellular cleft sodium nanodomains, and LQT3-associated mutant cha

273 e in complex with methionine showed a closed cleft state, explaining the initial mode of substrate bi

274 ns in IRF6, TFAP2A and GRHL3 cause orofacial clefting syndromes in humans.

275 eta-hairpin within this putative DNA-binding cleft that are essential for catalytic activity.

276 hose in SpPgdA, resulting in an open binding cleft that can accommodate polymeric substrates.

277 s, triggering disassembly of the hydrophobic cleft that they form together with the stable SAM domain

278 ar genetics of facial development and facial clefting that can be mined for crucial mechanistic infor

279 A hydrophobic cleft, the location of familial PD mutation sites, and t

280 cleft type and exclusively studied isolated clefts (those occurring without other birth defects).

281 the advances made in prenatal diagnostics of clefts through imaging and genomics and the various in u

282 ting negative supercoiling within the Pol II cleft to facilitate promoter opening.

283 horizontal cells control pH in the synaptic cleft to modulate photoreceptor neurotransmitter release

284 ptake of neurotransmitters from the synaptic cleft to terminate a neuronal signal and enable subseque

285 work hub shifted from the nucleotide binding cleft to the captured peptide.

286 were also small for investigating effects by cleft type and exclusively studied isolated clefts (thos

287 d middle region of the MHC-I peptide binding cleft, upon which the peptide C termini are tested for t

288 ith PelA(h)'s highly electronegative binding cleft versus the neutral surface present in Sph3(h) Our

289 ptor channel cluster structure inside dyadic clefts was found to affect all biomarkers investigated.

290 TCR binds underneath the MR1 antigen-binding cleft, where contacts are dominated by the MR1 alpha3 do

291 yocytes produced EADs for wide intercellular clefts, whereas for narrow clefts, EADs were suppressed.

292 cardiac myocytes, specifically in the dyadic cleft, which include changes in cleft geometry and chann

293 achieved by tight binding to the active-site cleft, which is covered for its sub-sites S(3) through S

294 a/alpha)(8)-fold with a deep electronegative cleft, which upon ligand binding is capped to form a tun

295 ft in the Rossmann fold closes the catalytic cleft with consequent inhibition of the deamination proc

296 r-filled vesicles released into the synaptic cleft with each action potential dictates the reliabilit

297 achment, lens dislocation, and cyclodialysis cleft with hypotony.

298 to -2 revealed an open and long active-site cleft with Trp-112 in subsite -5 concluded to be involve

299 g varying degrees of osseous bridging and/or clefting with the parent bone.

300 d the canonical EF hand, and the hydrophobic cleft yielded constitutively clustered STIM1, which was