ライフサイエンスコーパス: cleft

1 ter invasion of the hairpin in the RNAP main cleft.

2 dated within the HLA-C*06:02 antigen-binding cleft.

3 ssion and a highly conserved peptide-binding cleft.

4 trans-synaptic bridges spanning the synaptic cleft.

5 constitute the core of the B protein binding cleft.

6 DNA duplex within the open RNAP active site cleft.

7 neurotransmitter glutamate from the synaptic cleft.

8 nd increased dopamine levels in the synaptic cleft.

9 nd is located adjacent to the signal peptide cleft.

10 its partners via a well-defined hydrophobic cleft.

11 reports regarding OHRQoL in individuals with cleft.

12 ted by chloride binding at the intracellular cleft.

13 ion through ion channels facing the synaptic cleft.

14 ptake of RNA by folding into the RNA-binding cleft.

15 in-contacting loop adjacent to the catalytic cleft.

16 like structure that covers a deep lipophilic cleft.

17 g the time course of neurotransmitter in the cleft.

18 HF remains weakly bound in a widened binding cleft.

19 second encapsulation in its urea-based inner cleft.

20 ion through ion channels facing the synaptic cleft.

21 al change that narrows the S-peptide binding cleft.

22 molecule neurotransmitters from the synaptic cleft.

23 t mutants (Mllt10-KO) exhibit midline facial cleft.

24 istry, showing localization of MBL around CC clefts.

25 g is a well-established risk factor for oral clefts.

26 hed by mail, or had birth defects other than clefts.

27 the most frequent subphenotypes of orofacial clefts.

28 rom the erythrocyte membrane to the Maurer's clefts.

29 isk in unaffected relatives of children with clefts.

30 no acid polymorphisms in the antigen-binding clefts.

31 also contribute risk for isolated orofacial clefting.

32 onsidered a candidate for isolated orofacial clefting.

33 genetics and environment involved in facial clefting.

34 dentified to date for nonsyndromic orofacial clefting.

35 also contribute risk for isolated orofacial clefting.

36 sults: Of 2860 individuals born with an oral cleft, 2337 were included in the analysis; of these, 140

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

38 prominent role in the etiology of orofacial clefts, a frequent birth malformation.

39 the transient acidification of the synaptic cleft accompanying neurotransmission.

40 nsmitter receptors by responding to synaptic cleft acidification.

41 The narrowed binding cleft adds a barrier for complex formation likely influe

42 The molecular differentiation of each cleft allowed us to identify Mdga2 as a potential specif

43 ely monogenic, syndromic forms which include clefts among a spectrum of phenotypes.

44 he C-terminal region that form a hydrophobic cleft, an adjacent cluster of basic residues within the

45 al receptor that contains a urea-based inner cleft and a thiourea-based outer cleft, providing perfec

46 ed quality of life (OHRQoL) in children with cleft and caregiver well-being.

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

48 litude acidifications likely to occur at the cleft and may provide ASICs with the ability to shape ac

49 came constraints imposed by the deep binding cleft and structural recognition requirements of PBPs.

50 he complementarity of the enzyme active site cleft and the conformation of the substrate.

51 uencing the structure of the peptide-binding cleft and the diversity of peptides bound by the HLA-C m

52 allosteric link between the Arp3 nucleotide cleft and the hydrophobic groove, thereby promoting the

53 or with the unique combination of urea-based cleft and thiourea-based cleft in a single receptor has

54 impact on the topology of the ligand binding cleft and thus ligand specificity.

55 hort, consisting of 2337 cases with isolated clefts and 1 413 819 unaffected individuals, was followe

56 caused by maternal smoking (e.g., orofacial clefts and asthma) or adult smoking (e.g., certain cance

57 cate that individuals with nonsyndromic oral clefts and their families do not have a higher dental de

58 cohort to date of children with nonsyndromic clefts and their relatives, as compared with controls, a

59 es, the presynaptic nerve terminal, synaptic cleft, and postsynaptic specialization form a transcellu

60 could also elevate potassium in the synaptic cleft, and would depolarize other hair cells enveloped b

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

62 Orofacial clefts are among the most common birth defects in humans

63 Nonsyndromic orofacial clefts are one of the most common birth defects worldwid

64 Finally, new directions for research in cleft as a chronic condition are identified and discusse

65 d beta' subunits inside the RNAP active site cleft as well as with nearly every element of the nuclei

66 8.5 ( n = 16), and no mice were found with a cleft at birth.

67 Its deletion opens the enzyme cleft at the -3 subsite and turns the enzyme into an end

68 approach to targeting the ubiquitin-docking cleft at the E2-E3 interface for possible interventions

69 egion at one of its surfaces and a conserved cleft at the opposite surface.

70 tructure while four anions interact with the clefts at the surface of the container.

71 each other to further close the interdomain cleft between subdomains IB and IIB.

72 The hydrophilic cleft between the domains might serve as a binding site

73 normal subjacent bone, which defined a clear cleft between the lesion progeny and the parent bone (n

74 highly conserved, putative substrate-binding cleft between two alpha/beta lobes.

75 dicated that stimulators bind to a conserved cleft between two subdomains in the sGC heme domain.

76 In the synaptic cleft between type I hair cells and calyceal afferents,

77 KEY POINTS: In the synaptic cleft between type I hair cells and calyceal afferents,

78 microscopy revealed significantly more open clefts between endothelial cells treated with targeting,

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

80 Treatment was assessed in the Cleft (C) side and the Non-cleft (N).

81 ific interactions within the antigen binding cleft can be shared across HLA molecules with similar bi

82 sed acetylcholine levels within the synaptic cleft causing loss of muscle control, seizures, and deat

83 ogenesis, new branches form by "budding" or "clefting." Cell migration, proliferation, rearrangement,

84 nist-bound LBDs also stayed predominantly in cleft-closed conformations and made only infrequent excu

85 at the cross-linking immobilized the LBDs in cleft-closed conformations, and consequently concluded t

86 When calcium levels drop, the cleft closes, and the amphipathic alpha-helix is release

87 tion of the K265-Q633 salt bridge upon actin cleft closure regulates the activation of product releas

88 ctodomain reveals a potential ligand-binding cleft composed of residues that are critical for MNoV in

89 ioned along an edge of the TORC2 active-site-cleft, consistent with a role for CRIM in substrate recr

90 of hydrophobic residues in the MDM2 binding cleft, control the overall on-rate.

91 de syndrome, an autosomal dominant orofacial clefting disorder.

92 suggesting an acidification of the synaptic cleft due to the corelease of neurotransmitter and H(+)

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

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

95 ), which bind each other across the synaptic cleft, enabled sensitive visualization of synapses betwe

96 ons with p53 via competition for its binding cleft, exchanging slowly between docked and undocked con

97 inding pocket at interdomain or intersubunit clefts, facilitating proper solvent shielding for the ca

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

99 f transient cell separations associated with cleft formation; inner bud cells remain unaffected.

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

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

102 ce and is a strong candidate as an orofacial clefting gene in humans.

103 ytes to a metal complex with an open binding cleft generates "static structures" on the NMR timescale

104 Although children with oral clefts have a higher risk for dental anomalies when comp

105 and it addresses whether families with oral clefts have a significantly increased risk for dental de

106 ior genome-wide association studies for oral clefts have focused on clinic-based samples with unclear

107 ation of urea-based cleft and thiourea-based cleft in a single receptor has not been reported previou

108 -binding motif interacts with the inter-lobe cleft in the N-domain of p97.

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

110 of the amphipathic alpha-helix is bound to a cleft in the regulatory domain, leading to substrate tra

111 hows that the CTD docks within a hydrophobic cleft in the ZapD helical domain and adopts an unusual s

112 have varied roles in driving budding versus clefting in different organs.

113 of the effects of top loci on risks of oral clefts in a population of European descent.

114 st common excitatory and inhibitory synaptic clefts in living neurons.

115 All patients treated for clefts in Norway during the study period were invited to

116 wn by the genetic rescue of secondary palate clefts in Pax9(-/-)Dkk1(f/+);Wnt1Cre embryos.

117 pothesis is that the apparently nonsyndromic clefts in these 3 patients might represent hypomorphic f

118 different conformational states of the Pol I cleft, in addition to the stabilization of either Rrn7 N

119 enesis is disrupted, the result is orofacial clefting, including cleft lip and cleft palate (CL/P).

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

121 und structure reveals that the actin-binding cleft is closed, even though MgADP is tightly bound.

122 roscopy shows that the width of the synaptic cleft is decreased by 1.1 nm.

123 Given that the resting pH of the synaptic cleft is highly dynamic and depends on recent synaptic a

124 and His-269, and the surrounding active site cleft is hydrophobic in character and approximately twic

125 In summary, PEAK1's kinase cleft is occluded, and its newly identified SHED region

126 arded as a multifactorial condition in which clefting is an isolated phenotype, distinguished from th

127 However, for narrow clefts, late sodium current was reduced via self-attenua

128 the result is orofacial clefting, including cleft lip and cleft palate (CL/P).

129 Among individuals with isolated cleft lip and cleft palate, increased risks of intellect

130 d MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP).

131 tudies showed that mutations in IRF6 lead to cleft lip and palate and mandibular abnormalities.

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

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

134 signaling pathway have been associated with cleft lip and palate in humans and mice, the mechanisms

135 20 patients with complete unilateral cleft lip and palate were prospectively recruited.

136 The proband presented with bilateral cleft lip and palate, malformed auricles, and bilateral

137 ily of three affected siblings with isolated cleft lip and palate, we discovered that they share a no

138 th prolonged treatment trajectories, such as cleft lip and palate.

139 rimary cilium, and these patients often have cleft lip and palate.

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

141 d to improve nasal symmetry in patients with cleft lip and palate.

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

143 Nonsyndromic cleft lip and/or palate (NSCL/P) is a prevalent birth de

144 Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital m

145 Nonsyndromic Cleft Lip and/or Palate (NSCLP) is regarded as a multifa

146 l and known candidate genes for nonsyndromic cleft lip and/or palate through genome-wide linkage anal

147 tes the genetic contribution to nonsyndromic cleft lip and/or palate through the analysis of family p

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

149 f a large multi-ethnic human population with cleft lip identified clusters of single-nucleotide polym

150 Cleft lip is one of the most common human birth defects,

151 , 8q24, KIAA1598-VAX1, and MAFB and isolated cleft lip only (CLO) and cleft lip and palate (CLP).

152 ce: Young adults who were born with isolated cleft lip only did not differ significantly from unaffec

153 ity or mortality among persons with isolated cleft lip only.

154 with the cellular mechanism demonstrated for cleft lip pathogenesis, we found that either SHH ligand

155 Non-syndromic (NS) cleft lip with or without cleft palate (CL/P) is a commo

156 l clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among

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

158 n implicated in the etiology of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in popul

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

160 veral genetic risk variants for nonsyndromic cleft lip with or without cleft palate (NSCL/P).

161 Cleft lip with or without cleft palate is the most commo

162 toward understanding the genetic etiology of cleft lip with or without cleft palate, relatively littl

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 Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsynd

166 rter snout, expansion of the facial midline, cleft lip, extensive exencephaly, and microphthalmia or

167 that disruption of this sequence results in cleft lip.

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

169 ith both syndromic and nonsyndromic forms of cleft lip/palate (CLP).

170 escended testes, hypospadias, hydrocephalus, cleft lip/palate, and clubfoot) was determined by physic

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

172 d that the four mutations helped the binding cleft maintain a stable conformation.

173 Increased potassium concentration in the cleft maintained the hair cell near potentials that prom

174 potassium ions accumulating in the synaptic cleft modulated membrane potentials and extended the ran

175 For both wide and narrow clefts, mutant channels were incompletely inactivated.

176 s assessed in the Cleft (C) side and the Non-cleft (N).

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

178 ctively smoked had an increased risk of oral clefts (odds ratio (OR) = 1.27, 95% confidence interval

179 inorganic phosphate (Pi) from the nucleotide cleft of actin.

180 t the GBA motif binds to the SwitchII/alpha3 cleft of Galpha and induces changes in the G-1/P-loop an

181 tion shows that succinyl-CoA binds to a deep cleft of KAT2A with the succinyl moiety pointing towards

182 bstrate was accurately mapped to the binding cleft of lysozyme, and in a more complex example, the in

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

184 and Rpb2 subunits, bridging the DNA-binding cleft of Pol II proximal to the upstream DNA entry site.

185 imal complementarity between the active site cleft of protease and the substrate, resulting in rapid

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

187 N-terminal domain (NGN) binds at the central cleft of RNA polymerase surrounded by the beta' clamp he

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

189 the region encompassing the closed catalytic cleft of substrate-liganded MurA.

190 tegravir may bind within the antigen binding cleft of the HLA-B*53:01 molecule, but not within the cl

191 Clefting of the lip, with or without palatal involvement

192 ration in palatal shelves growth resulted in clefting of the secondary palate.

193 which are thought to reside within external clefts of the channel.

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

195 Orofacial clefts (OFCs) are congenital dysmorphologies of the huma

196 Orofacial clefts (OFCs), which include non-syndromic cleft lip wit

197 action with p53 by structuring a p53-binding cleft on E6.

198 lained by HMGS binding to an unusual surface cleft on the donor ACP, in a manner that would exclude t

199 e 'acidic patch' is a highly electronegative cleft on the histone H2A-H2B dimer in the nucleosome.

200 e L1 LXCXE motif in UL97 and its interacting clefts on p107 and p130.

201 tions and made only infrequent excursions to cleft-open conformations.

202 ide and inside nerve cells, such as synaptic clefts or dendritic spines.

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

204 Non-syndromic (NS) cleft lip with or without cleft palate (CL/P) is a common disorder with a strong g

205 lude non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth def

206 orofacial clefting, including cleft lip and cleft palate (CL/P).

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

208 Cleft palate (CP) is a common birth defect occurring in

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

210 Nonsyndromic cleft lip with/without cleft palate (nsCL/P) and nonsyndromic cleft palate only

211 gy of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in populations of Asian and Europe

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

213 s for nonsyndromic cleft lip with or without cleft palate (NSCL/P).

214 as performed on a subject with micrognathia, cleft palate and hypotonia that harbored a de novo, bala

215 iopathy phenotypes, including cystic kidney, cleft palate and polydactyly.

216 ibular hypoplasia that leads to agnathia and cleft palate at birth.

217 and effective therapies for the treatment of cleft palate conditions and other single-gene disorders

218 the ectodysplasin (Eda) pathway, can resolve cleft palate defects in Pax9(-/-) embryos in utero.

219 However, individuals with isolated cleft palate had increased health risks and mortality.

220 n in the Golgb1 gene that co-segregated with cleft palate in a new mutant mouse line.

221 Cleft palate is a common birth defect caused by disrupti

222 egions of the genome play in the etiology of cleft palate is not well studied.

223 Cleft lip with or without cleft palate is the most common congenital malformation

224 ttle is known about the genetic etiology for cleft palate only (CPO).

225 thout cleft palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most frequent subpheno

226 on of some loci with NSCL/P and nonsyndromic cleft palate only (NSCPO) in cohorts from Africa (Ghana,

227 Nonsyndromic cleft palate only (nsCPO) is a facial malformation that

228 detectable that is shared with nonsyndromic cleft palate only (nsCPO).

229 ffect was observed for the fetal NOG1 SNP on cleft palate only, opposite in direction to the effect o

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

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

232 bation of any of these processes could cause cleft palate, a common birth defect that significantly a

233 mong individuals with isolated cleft lip and cleft palate, increased risks of intellectual disability

234 enetic etiology of cleft lip with or without cleft palate, relatively little is known about the genet

235 etions of 20p12 are variably associated with cleft palate, short stature, and developmental delay.

236 splays a consistent phenotype of a secondary cleft palate, to test a novel therapeutic.

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

238 in the palatal mesenchyme, exhibit isolated cleft palate.

239 ds to abnormal oral epithelial adhesions and cleft palate.

240 craniosynostosis, mandibular hypoplasia and cleft palate.

241 therapies that can either prevent or correct cleft palates in humans.

242 d for the development of therapies for human cleft palates that arise from single-gene disorders.

243 During cleft pathogenesis, reduced proliferation in the medial

244 r protons in HC feedback but that changes in cleft pH accompanying changes in HC membrane voltage als

245 photoreceptors involves changes in synaptic cleft pH accompanying light-evoked changes in HC membran

246 data support earlier proposals that synaptic cleft pH changes are more likely responsible.

247 so examined mechanisms for changing synaptic cleft pH in response to changes in HC membrane potential

248 eedback from HCs involve changes in synaptic cleft pH that modulate photoreceptor calcium currents.

249 ss of the median cell population, creating a cleft phenotype.

250 ygous mutant embryos exhibit an overt facial clefting phenotype more severe than that observed in eit

251 complexes for miR-17 and miR-18 manifested a clefting phenotype that was distinct from that observed

252 rotease that form the lid over the catalytic cleft play a significant role in substrate specificity a

253 TD), which projects midway into the synaptic cleft, plays a fundamental role in this process.

254 K signaling pathway genes in human orofacial clefting populations.

255 Most UAA alleles have unique residues in the cleft predicting distinct specificity; however, six alle

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

257 ellular trafficking motifs and what specific cleft proteins participate in the process remain to be e

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

259 based inner cleft and a thiourea-based outer cleft, providing perfect sites for step-wise binding of

260 despite initiating trajectories from closed-cleft receptor structures unsuitable for docking.

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

262 f the activation upon binding of the border (cleft) region between the two domains.

263 mbrane-binding surface, and kinase catalytic cleft, respectively.

264 nal domains (ATDs) adopt "closed" and "open" clefts, respectively.

265 uggesting that several loci are modifiers of cleft risk in both isolated and nonisolated forms.

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

267 ients with CLP congenitally lack bone in the cleft site with diminished capacity for bone formation i

268 netic alternations associated with orofacial clefts; so, it is not surprising that CL/P is among the

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

270 Ca(2+) ]i , in the submembrane or junctional cleft space, is not required to maximize [Ca(2+) ]i -dep

271 system, including regulation of the synaptic cleft structure and neuroprotection against injury.

272 y translocate via hydrophobic pore loops and cleft structures called clamps.

273 ross populations, diverse study designs, and cleft subtypes.

274 ere similar between isolated and nonisolated clefts, suggesting that several loci are modifiers of cl

275 Nun interactions inside the RNAP active site cleft suggests that RNAP clamp opening is required for N

276 omain that contains a deep substrate-binding cleft tailored to accommodate the hook-like structure ad

277 the transient acidification of the synaptic cleft that accompanies neurotransmission.

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

279 domain contains a closed nucleotide-binding cleft that in this conformation may deleteriously affect

280 lytic triad located at the bottom of an open cleft that is large enough to accommodate the thiopeptid

281 ains an open, positively charged RNA binding cleft that is primed for productive interaction with RNA

282 ound the centrosome in a specialized nuclear cleft that we identified, assembling the early Bb.

283 een first-trimester passive smoking and oral clefts that was consistent across populations, diverse s

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

285 diA-CT each insert into the CysK active-site cleft to anchor the respective complexes.

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

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

288 No difference was found with regard to cleft type and percentage dft, dt, DFT, and DT in case p

289 We estimated the effects of 17 top loci on cleft types in both isolated and nonisolated cases in th

290 1, which removes glutamate from the synaptic cleft via stoichiometrically coupled Na(+)-K(+)-H(+)-glu

291 To investigate GRHL3 in nonsyndromic clefting, we sequenced its coding region in 576 European

292 with the C-terminal domain of XerD, above a cleft where XerC is thought to bind.

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

294 nding to Zn(2+) in the deep CAII active-site cleft, which precludes simultaneous CB[6] binding.

295 5 only engaged cyt c at its lower and upper clefts while the membrane-free cytb 5 also uses a distal

296 ial edema was used to increase intercellular cleft width in isolated guinea pig heart experiments.

297 that significantly decreasing intercellular cleft widths slows conduction because of reduced sodium

298 wever, six alleles have an unusual conserved cleft with two cysteine residues.

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

300 two terminal hydrides within the bimetallic cleft, with a moderate enthalpic barrier of approximatel