ライフサイエンスコーパス: cleft palate

1 and altered jaw skeletal differentiation and cleft palate.

2 specifically for nonsyndromic cleft lip with cleft palate.

3 ain patterning, hydrocephalus incidence, and cleft palate.

4 respiratory failure, neonatal lethality and cleft palate.

5 niofacial anomalies such as micrognathia and cleft palate.

6 d abnormal oral periderm and 17% developed a cleft palate.

7 ar to that of Tgfbr2 mutant mice, as well as cleft palate.

8 ts in various skeletal deformities including cleft palate.

9 facial processes that leads to cleft lip and cleft palate.

10 tiology of common congenital defects such as cleft palate.

11 h SBBYSS also have thyroid abnormalities and cleft palate.

12 ary and mandibular skeletal deformation, and cleft palate.

13 l interaction and a novel genetic factor for cleft palate.

14 /-);bt/bt mice, which have a fully penetrant cleft palate.

15 letal abnormalities, dysmorphic features and cleft palate.

16 ociation study of cleft lip with and without cleft palate.

17 shortly after birth, most likely because of cleft palate.

18 potential therapeutic approach for rescuing cleft palate.

19 elevation delay with incompletely penetrant cleft palate.

20 n signaling pathway, leads to cleft lip with cleft palate.

21 e processes leads to the congenital anomaly, cleft palate.

22 pear to be associated with increased risk of cleft palate.

23 enesis, and they provide candidate genes for cleft palate.

24 causes craniofacial abnormalities, including cleft palate.

25 , in particular those with cleft lip but not cleft palate.

26 on of the palatal shelves and, subsequently, cleft palate.

27 A single patient had a cleft palate.

28 is associated with human defects, including cleft palate.

29 caused severe craniofacial defects including cleft palate.

30 te fusion during embryogenesis is a cause of cleft palate.

31 o similar patterns were observed for risk of cleft palate.

32 ed or nonsyndromic cleft lip with or without cleft palate.

33 levation of the palatal shelves leading to a cleft palate.

34 lay in palatal shelf elevation, resulting in cleft palate.

35 ent, resulting in the common birth defect of cleft palate.

36 r contributors to cleft lip, with or without cleft palate.

37 of the GABA synthetic enzyme (Gad1) leads to cleft palate.

38 congenital diseases such as spina bifida and cleft palate.

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

40 craniosynostosis, mandibular hypoplasia and cleft palate.

41 n palate development and the pathogenesis of cleft palate.

42 in the palatal mesenchyme, exhibit isolated cleft palate.

43 ds to abnormal oral epithelial adhesions and cleft palate.

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

45 d granular keratinocyte differentiation, and cleft palate.

46 ial malformations such as dental defects and cleft palate.

47 mus hypoplasia, cardiovascular anomalies and cleft palates.

48 e 377 infants with cleft lip with or without cleft palate, 196 with cleft palate only, and 763 contro

49 in midline facial development, ranging from cleft palate (52%) to complete cleft face (44%).

50 ds ratio = 3.2 for cleft lip with or without cleft palate (95% confidence interval: 1.0, 10.2) and od

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

52 ects in any of these processes can result in cleft palate, a common human birth defect.

53 ions in secondary palate fusion will lead to cleft palate, a common human birth defect.

54 tt homozygotes also show facial clefting and cleft palate abnormalities.

55 nt phenotypes: (1) cleft lip with or without cleft palate and (2) cleft palate only.

56 98, there were 1,572 cases of cleft lip with cleft palate and 1,122 cases with cleft lip only.

57 bryos having exencephaly, pericardial edema, cleft palate and abnormal limb development, phenotypes n

58 le homozygous mutant for either gene exhibit cleft palate and an early arrest of tooth formation.

59 X-linked cleft palate and ankyloglossia results from loss-of-func

60 ault, hypertelorism, open-bite malocclusion, cleft palate and arrested tooth development.

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

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

63 generally divided into two groups, isolated cleft palate and cleft lip with or without cleft palate,

64 autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands an

65 ew causes of developmental disorders such as cleft palate and congenital heart disease.

66 terns in most tissues and completely rescued cleft palate and cranial skeletal developmental defects

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

68 chromosome Xq22.1 associates with epilepsy, cleft palate and developmental defects in heterozygous f

69 Deletion of mouse Kir2.1 also causes cleft palate and digital defects.

70 However, despite of formation of cleft palate and ectopic cartilage, forced expression of

71 ester exposure to inhaled beta2-agonists for cleft palate and gastroschisis and found a potential new

72 lications, atresia, fistulas, hypertelorism, cleft palate and hamartoma.

73 are 5-fold more sensitive to dioxin-induced cleft palate and hydronephrosis as compared with embryos

74 he Ahr locus that influence the incidence of cleft palate and hydronephrosis in developing mice expos

75 2,3,7,8-tetrachlorodibenzo-p-dioxin) induces cleft palate and hydronephrosis in mice, when exposed in

76 The incidence of cleft palate and hydronephrosis was not significantly di

77 The incidences of cleft palate and hydronephrosis were assessed and genomi

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

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

80 tion of multiple genes genetically linked to cleft palate and identify AP-2alpha (TFAP2A) as a co-reg

81 aneurysms, hypertelorism, and bifid uvula or cleft palate and is caused by heterozygous mutations in

82 ciated with different malformations, such as cleft palate and limb deformation, resembling the human

83 lead to PNH associated with toe syndactyly, cleft palate and neurodevelopmental delay.

84 lopmental defects in Osr1(-/-) mice and with cleft palate and open eyelids at birth in Osr2(-/-) mice

85 neural crest cells leads to perinatal death, cleft palate and other cranial bone defects, which are a

86 the X-linked human EPHRIN-B1 gene result in cleft palate and other craniofacial anomalies as part of

87 in new approaches to defining the causes of cleft palate and other facial clefts that may result fro

88 f these cells leads to birth defects such as cleft palate and persistent truncus arteriosus (PTA).

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

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

91 vascular defects were also found, along with cleft palates and ectopically located thymi, in Wnt1-Cre

92 ithout cleft palate (CL/P), 99 with isolated cleft palate, and 588 controls from a California populat

93 ognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic "question-mark" ear m

94 dline defects, excencephaly, hyperterlorism, cleft palate, and a striking loss of many NC and paraxia

95 first trimester, mothers of limb deficiency, cleft palate, and cleft lip cases were, respectively, 1.

96 acterized by hypoplasia of the facial bones, cleft palate, and middle and external ear defects.

97 sks were seen in children with microcephaly, cleft palate, and selected eye, cardiac, and renal defec

98 drome in humans, the most common syndrome of cleft palate, and the most common syndrome of conotrunca

99 ities, including anophthalmia, microcephaly, cleft palates, and mandibular malformations.

100 Fallot, coarctation of the aorta, cleft lip, cleft palate, anorectal atresia/stenosis, and limb reduc

101 identified associations with cleft lip with cleft palate (aOR = 1.23) and anorectal atresia/stenosis

102 prises long nose, small mouth, micrognathia, cleft palate, arachnodactyly and intellectual disability

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

104 uman phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disea

105 f epithelial differentiation that results in cleft palate as a consequence of adhesion between the pa

106 7% of the mixed background mutants displayed cleft palate as well as retardation of skull development

107 in Nog mutants that may be relevant to human cleft palate as well.

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

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

110 xial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and str

111 ibution of cleft lip only and cleft lip with cleft palate by covariate.

112 to neurocristopathies such as cleft-lip and cleft-palate, cardiac septal defects, and eye defects.

113 of defects with reduced penetrance, such as cleft palate, choanal atresia, septal defects of the hea

114 ion would decrease cleft lip with or without cleft palate (CL +/- P) risk and that menstrual regulati

115 3 individuals with cleft lip with or without cleft palate (CL/P) and 19 individuals with both orofaci

116 a novel locus for cleft lip with or without cleft palate (CL/P) at 9q22-q33.

117 ed or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a comp

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

119 ork suggested that cleft lip with or without cleft palate (CL/P) is genetically distinct from isolate

120 Cleft lip with or without cleft palate (CL/P) is one of the most common congenital

121 s with the risk of cleft lip with or without cleft palate (CL/P) or cleft palate (CP).

122 ants with isolated cleft lip with or without cleft palate (CL/P), 99 with isolated cleft palate, and

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

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

125 exposure to inhaled steroids were confirmed (cleft palate, cleft lip, anal atresia, and hypospadias).

126 er craniofacial defects, middle-ear defects, cleft palate, cleft lip, limb defects, limb-reduction de

127 Cleft lip and cleft palate (CLP) are common disorders that occur eithe

128 hree common diseases, isolated cleft lip and cleft palate (CLP), hypothyroidism and thyroid cancer al

129 aly, spina bifida, cleft lip with or without cleft palate (CLP), or cleft palate only.

130 ave implications for the pathogenesis of the cleft palate component of Smith-Lemli-Opitz syndrome and

131 Micrognathia, glossoptosis, and cleft palate comprise one of the most common malformatio

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

133 fidget mutations die soon after birth due to cleft palate, consistent with the overlapping expression

134 t lip and palate (CLP) cases than seen among cleft palate (CP) and cleft lip (CL) cases.

135 The cleft palate (CP) appears to be the result of micrognath

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

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

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

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

140 Isolated cleft palate (CP) was also associated, indicating that F

141 IRF6 was also associated with cleft palate (CP) with impaction of permanent teeth (p<1

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

143 t lip with or without cleft palate (CL/P) or cleft palate (CP).

144 missense mutations in patients with X-linked cleft palate (CPX) and ankyloglossia.

145 syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable express

146 n in the palatal epithelium does not cause a cleft palate defect, we conclude from our results that N

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

148 e type of alcohol consumed, particularly for cleft palate (distilled spirits > wine > beer).

149 In zebrafish, untreated pdgfra mutants have cleft palate due to defective neural crest cell migratio

150 e, heterozygosity for the deletion manifests cleft palate, early postnatal lethality, postnatal growt

151 : a failure in midline fusion resulting in a cleft palate, ectopia cordis, and a large omphalocele.

152 to Jeff heterozygotes, Jeff homozygotes show cleft palate, facial clefting and perinatal lethality.

153 Recent data suggest that the risk of cleft palate formation after in-utero glucocorticoid exp

154 cer also leads to a hypoplastic mandible and cleft palate formation in mice.

155 medial edge seam (MES), ultimately causing a cleft palate formation, a phenotype resembling that in T

156 the first trimester may increase the risk of cleft palate formation.

157 Loss of BMP signaling leads to cleft palate formation.

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

159 ngenital anomalies, including heart defects, cleft palate, fusion of the ribs, short limbs, distal co

160 x22, the mouse homolog of the human X-linked cleft palate gene, as a putative downstream target of Mn

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

162 pproximately 6-fold increased sensitivity to cleft palate, hydronephrosis, and lethality.

163 Individuals with isolated cleft palate (ie, without cleft lip) had increased morta

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

165 sforming growth factor alpha (TGFA) gene and cleft palate in an Irish study.

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

167 g protein, SATB2, result in micrognathia and cleft palate in both humans and mice.

168 loinsufficiency led to greater penetrance of cleft palate in bt mice, with a similar defect in palata

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

170 sis is reflected by the common occurrence of cleft palate in humans.

171 IRF6 disrupt orofacial development and cause cleft palate in humans.

172 ads to craniofacial malformations, including cleft palate in mice (Tgfbr2(fl/fl);Wnt1-Cre mice).

173 d Pitx2 loss of function mutations result in cleft palate in mice.

174 mutations are associated with cleft lip and cleft palate in mice; however, the cause of these defect

175 suggest an indirect mechanism for secondary cleft palate in Nog mutants that may be relevant to huma

176 similar exposure of CBA/J (CBA) dams led to cleft palate in only 8% and hydronephrosis in 69% of emb

177 factor in the development of phocomelia and cleft palate in RBS.

178 Additionally, we found that the cleft palate in Rspo2(-/-) mice is not associated with d

179 Cleft palate in Snai1(+/-) Snai2(-/-) embryos is due to

180 Cleft palate in these mice was associated with delay/fai

181 either unilateral or bilateral cleft lip and cleft palate in two male siblings.

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

183 bers cause craniofacial deformities, such as cleft palate, in mice.

184 lead to pharmacological approaches to reduce cleft palate incidence in genetically predisposed humans

185 Cleft palate, including submucous cleft palate, is among

186 Homozygous null mice display cleft palate, incomplete fusion of the ribs at the midli

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

188 severe developmental disorder manifested by cleft palate, intellectual disability, and skeletal abno

189 Cleft palate is a common birth defect caused by disrupti

190 Cleft palate is a common birth defect in humans and is a

191 Cleft palate is a common birth defect in humans.

192 Cleft palate is a common major birth defect for which cu

193 Cleft palate is a common major birth defect resulting fr

194 A possible cause of cleft palate is a delay of proper palatal shelf elevatio

195 Cleft palate is among the most common birth defects in h

196 Cleft palate is among the most common structural birth d

197 of the developing palatal shelves, submucous cleft palate is characterized by defects in palatal bone

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

199 Cleft palate is one of the most common birth defects in

200 Cleft palate is one of the most common birth defects in

201 Cleft palate is one of the most common human birth defec

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

203 rning normal palatogenesis nor the causes of cleft palate is well understood.

204 Cleft palate, including submucous cleft palate, is among the most common birth defects in

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

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

207 have no cranial defects (Lhx6) or show only cleft palate (Lhx7).

208 been identified as genetic risk factors for cleft palate, little is known about the relationship bet

209 y associated with cleft lip with and without cleft palate (MAFB, most significant SNP rs13041247, wit

210 Wnt1-Cre;Erk2(fl/fl) mice exhibited cleft palate, malformed tongue, micrognathia and mandibu

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

212 Although cleft lip with cleft palate may simply represent a more severe form of

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

214 These mutants also show complete secondary cleft palate, most likely due to inhibition of posterior

215 y with an X-linked lethal disorder involving cleft palate, neonatal seizures, contractures, central n

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

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

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

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

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

221 Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenit

222 that nonsyndromic cleft lip with or without cleft palate (NSCL/P) is strongly associated with SNPs i

223 for non-syndromic cleft lip with or without cleft palate (NSCL/P).

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

225 Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect.

226 Non-syndromic cleft lip with or without cleft palate (NSCLP) results from the complex interactio

227 osourea-induced mouse model of non-syndromic cleft palate (NSCP) that is caused by an intronic Prdm16

228 Cleft palate occurred in nearly all mice homozygous for

229 x3 in cranial neural crest cells resulted in cleft palate, ocular defects, malformation of the spheno

230 ave an infant with cleft lip with or without cleft palate (odds ratio = 2.2, 95% confidence interval:

231 ithelial fusion, failure of which results in cleft palate, one of the most common birth defects in hu

232 he consequence of failure in this process is cleft palate, one of the most common birth defects in hu

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

234 nterval: 1.0, 10.2) and odds ratio = 3.0 for cleft palate only (95% confidence interval: 0.7, 13.0).

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

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

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

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

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

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

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

242 2.2, 95% confidence interval: 1.1, 4.2) and cleft palate only (odds ratio = 2.6, 95% confidence inte

243 ith spina bifida, 277 with CLP, and 117 with cleft palate only in addition to 785 controls.

244 t lip with or without cleft palate, 196 with cleft palate only, and 763 controls.

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

246 t lip with or without cleft palate (CLP), or cleft palate only.

247 eft lip with or without cleft palate and (2) cleft palate only.

248 Cleft palate (OR, 1.63; 95% CI, 1.05-2.52) and gastrosch

249 ded to be near to (cleft lip, cleft lip with cleft palate) or to exceed (cleft palate) unity.

250 Cases with a cleft lip, cleft palate, or both and unaffected controls delivered

251 uding hypospadias, cleft lip with or without cleft palate, or hydrocephalus.

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

253 are also found in around 5% of non-syndromic cleft palate patients.

254 expectedly, the birth prevalence of isolated cleft palate per 1,000 livebirths increased linearly wit

255 In addition, we observe a unique cleft palate phenotype at the anterior end of the second

256 n multiple craniofacial defects, including a cleft palate phenotype distinct from that observed in Sn

257 In the present study, the cleft palate phenotype in Tgf-beta3-/- mice was rescued

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

259 expression of the beta3 subunit rescued the cleft palate phenotype, a nonneuronal GABAergic system i

260 ypomorphic alleles (Hand2(LoxP/-)) display a cleft palate phenotype.

261 thelial specific deletion of Hand2 creates a cleft palate phenotype.

262 /fl);Wnt1-Cre mice and previously identified cleft palate phenotypes in genetically engineered mouse

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

264 Humanitarian surgical organisations provide cleft palate repair for patients without access to surgi

265 d cleft palate and cleft lip with or without cleft palate, representing a heterogeneous group of diso

266 Cleft palate represents one of the most common congenita

267 Cleft palate represents one of the most common congenita

268 ty, with the assumption that an accompanying cleft palate represents the more severe form.

269 Cleft palate resulted from a temporally specific delay i

270 skull, hypoplastic maxilla and mandible, and cleft palate resulting from a failure of palatal shelves

271 While overt cleft palate results from defects in growth or fusion of

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

273 es accompanied by intellectual disability, a cleft palate, short stature, and dysmorphic features.

274 t a Tbx22(null) mouse, which has a submucous cleft palate (SMCP) and ankyloglossia, similar to the hu

275 ntify the gene as an important candidate for cleft palate studies in the human population.

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

277 d to the palatal mesenchyme, did not display cleft palate, suggesting that palatal clefting in Wnt1-C

278 normalities apart from a partially penetrant cleft palate syndrome.

279 malies were more prevalent in cleft lip with cleft palate than other cleft types.

280 pathogenesis of the bilateral cleft lip and cleft palate that results from mutation of Tp63, we anal

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

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

283 tives of the pharyngeal apparatus, including cleft palate, thymus gland aplasia and cardiac outflow t

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

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

286 , cleft lip with cleft palate) or to exceed (cleft palate) unity.

287 rmal development of the neural crest such as cleft palate, ventricular septal defect, abnormal develo

288 pregnancy BMI, the adjusted risk of isolated cleft palate was 2.3 times higher (95% confidence interv

289 One locus segregating with dioxin-induced cleft palate was identified (p < 0.01) and designated as

290 Cleft palate was observed in both conditional knockout a

291 The presence of cleft palate was significantly associated with c.8057G>A

292 mutant known to display a 100% incidence of cleft palate, we examined the interaction between TGFbet

293 Problems in nasal development and cleft palate were also observed.

294 bral hemisphere to divide, hydrocephalus and cleft palate which have been observed in a human patient

295 Snai2(-/-) mice exhibit cleft palate, which is completely penetrant on a Snai1 h

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

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

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

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

300 ) mice exhibit VSDs with ~50% penetrance and cleft palate with less than 10% penetrance; and Fz2(-/-)