ライフサイエンスコーパス: craniofacial

1 at 14 programs (10 upper limb, 10 uterus, 5 craniofacial, 1 scalp, 1 abdominal wall, and 1 penile).

2 , immunodeficient, and displayed spontaneous craniofacial abnormalities and delayed lymphomagenesis c

3 he two primary features of Keipert syndrome: craniofacial abnormalities and digital abnormalities.

4 We hypothesized that DS mice recapitulate craniofacial abnormalities and upper airway obstruction

5 nial neural crest cells that would result in craniofacial abnormalities during development.

6 In this study, we investigated the craniofacial abnormalities in a mouse model for Keutel s

7 ely characterize the upper airway as well as craniofacial abnormalities in Dp(16)1Yey (Dp16) mice.

8 ypothesized that we could improve DS-related craniofacial abnormalities in mouse models using a Dyrk1

9 ss of THAP11 in zebrafish embryos results in craniofacial abnormalities including the complete loss o

10 Opa3(L122P) mice displayed craniofacial abnormalities, including undergrowth of the

11 ng degrees of goniodysgenesis and ocular and craniofacial abnormalities, recapitulating some of the f

12 cluding retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurologi

13 yndrome, which is characterised, in part, by craniofacial abnormalities.

14 l crest cell (NCC) development explains RCPS craniofacial abnormalities.

15 Tooth agenesis is a common craniofacial abnormality in humans and represents failur

16 e provides a neural substrate for heightened craniofacial affective pain.

17 y may be an effective way to ameliorate some craniofacial anatomical changes associated with DS.

18 f the cranial vault, but did not correct all craniofacial anatomy.

19 The indispensable role of Nell-1 in normal craniofacial and appendicular skeletal development and g

20 show that MN1 plays a critical role in human craniofacial and brain development, and opens the door t

21 and CP 55,940 caused alcohol-like effects on craniofacial and brain development, phenocopying Shh mut

22 rmal dysplasias, orofacial clefts, and other craniofacial and dental anomalies.

23 Scube3(-/-) mice showed craniofacial and dental defects, reduced body size, and

24 Base 3 now welcomes contributions of data on craniofacial and dental development in humans, model org

25 s investigated through disruption of Tsc2 in craniofacial and limb bud mesenchymal progenitors.

26 LX5 gene have been linked to deficiencies in craniofacial and limb development in higher eukaryotes,

27 disease characterised by defects in kidney, craniofacial and limb development, and by a range of oth

28 recessive condition mainly characterized by craniofacial and limb malformations.

29 Here we investigated the patterns of craniofacial and mandibular variation from Mesolithic hu

30 capzb(-/-) mutants exhibit both craniofacial and muscle defects that recapitulate the ph

31 The mouse B3glct mutants developed craniofacial and skeletal abnormalities comparable to PT

32 highlight IFT80 as a therapeutic target for craniofacial and skeletal abnormalities.

33 tanding of the molecular mechanisms of human craniofacial and tooth development and disease and will

34 Thyroid hormone deficiency causes delayed craniofacial and tooth development, dysplastic facial fe

35 findings involving the Hippo-Yap pathway in craniofacial and tooth development.

36 ng embryonic development, producing numerous craniofacial and trunk skeletal elements, without contri

37 e Andersen-Tawil Syndrome (ATS); the induced craniofacial anomalies (CFAs) are entirely unexplained.

38 al interventions are the only means by which craniofacial anomalies can be corrected so that function

39 When these processes fail, congenital craniofacial anomalies can occur.

40 pression in chondrocytes fully corrected the craniofacial anomalies caused by MGP deficiency, suggest

41 lopment of novel therapies for developmental craniofacial anomalies in humans.

42 e calcification and some forms of congenital craniofacial anomalies in humans.

43 gh Med23 to the etiology and pathogenesis of craniofacial anomalies such as micrognathia and cleft pa

44 ossia and cleft palate are common congenital craniofacial anomalies, and these are regulated by a com

45 Although prenatal alcohol exposure causes craniofacial anomalies, growth retardation, neurological

46 of numerous genes associated with congenital craniofacial anomalies, our understanding of their etiol

47 ine growth restriction, severe microcephaly, craniofacial anomalies, skeletal dysplasia, and neonatal

48 onsyndromic, it can be associated with other craniofacial anomalies, such as malocclusions and delaye

49 is a rare genetic disorder characterized by craniofacial anomalies, variable intellectual and psycho

50 rnal smoking has been linked to incidence of craniofacial anomalies.

51 acterized by short stature, short limbs, and craniofacial anomalies.

52 xample, choanal atresia (CA) is a congenital craniofacial anomaly in which the connection between the

53 duced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies.

54 yndrome (NS) is characterized by distinctive craniofacial appearance, short stature, and congenital h

55 To assess the susceptibility of each craniofacial articulation to close prematurely, we used

56 g applications of genome editing in oral and craniofacial biology.

57 to understanding the evolutionary changes of craniofacial biomechanics and the interaction of food pr

58 alization, and allow manipulation of virtual craniofacial biomodels within the operative field.

59 The etiology and pathogenesis of craniofacial birth defects are multifactorial and includ

60 al clefts (NSOFC), which are the most common craniofacial birth defects in humans.

61 Cleft palate (CP) is one of the most common craniofacial birth defects, impacting about 1 in 800 bir

62 Disruption of such regulations can result in craniofacial birth defects.

63 in NCCs leads to cleft palate and defects in craniofacial bone development.

64 or example, only anterior "cranial" NCC form craniofacial bone, whereas solely posterior "trunk" NCC

65 n this study establish an association of the craniofacial bony structures with vertical patterning, w

66 sanguineous families affected by overlapping craniofacial, cardiac, laterality and neurodevelopmental

67 h relapse has been a long-standing battle in craniofacial care of patients, currently there are no av

68 form shows promise as an adjuvant therapy in craniofacial care of patients.

69 oxin (TCDD) prevents the proper formation of craniofacial cartilage and the heart in developing zebra

70 In zebrafish, ddrgk1 deficiency disrupted craniofacial cartilage development and led to decreased

71 in amniotes and confers the ability to form craniofacial cartilage onto non-cranial neural crest sub

72 del rescued the defects in Schwann cells and craniofacial cartilage.

73 Here, we identified candidate craniofacial cis-regulatory elements across vertebrates

74 tinct functions as the synovial joint of the craniofacial complex and also as the site for endochondr

75 lar joint (TMJ) is the synovial joint of the craniofacial complex and is subject to injury and osteoa

76 for Gli transcriptional activity within the craniofacial complex that is independent of a graded Hh

77 nd other single-gene disorders affecting the craniofacial complex.

78 The craniofacial consequences resulting from gain-of-functio

79 functions for signaling pathways in specific craniofacial contexts, but point mutations, even when co

80 ities of the craniofacial region observed on craniofacial CT examinations obtained during initial eva

81 The abnormal radiological findings on craniofacial CT scans of Mucor and Aspergillus induced A

82 riants, but not wild-type RRAS2 RNAs, showed craniofacial defects and macrocephaly.

83 Finally, we examine craniofacial defects by a known human teratogen, cyclopa

84 chanisms that mediate the self-correction of craniofacial defects in pre-metamorphic X. laevis tadpol

85 e;Ift88fl/flpups died at birth due to severe craniofacial defects including bilateral cleft lip and p

86 s1 null background partially ameliorates the craniofacial defects observed in Gas1 single mutants; a

87 ne of the loss-of-function variants leads to craniofacial defects possibly akin to the dysmorphic fac

88 For craniofacial defects, AFT is less invasive and safer tha

89 or foxc1b (foxc1a+/-;foxc1b-/-) demonstrated craniofacial defects, heart anomalies and scoliosis.

90 oral and dental epithelium results in severe craniofacial defects, including impaired dental stem cel

91 -) mice were affected by a broad spectrum of craniofacial defects, including shorter snout, expansion

92 iants in IRF6 and TWIST1 contribute to human craniofacial defects, this gene-gene interaction may hav

93 this core pre-mRNA splicing factor leads to craniofacial defects.

94 dose overexpression of this variant induced craniofacial defects.

95 vitro models and Xenopus embryos, and cause craniofacial defects.

96 vidual mutations, failed to rescue renal and craniofacial defects.

97 uded cardiac edema, spinal malformation, and craniofacial deformities and there were distinct differe

98 Craniofacial deformities have functional and psychosocia

99 (AFT) applied for traumatic and postsurgical craniofacial deformities.

100 in craniosynostosis, one of the most common craniofacial deformities.

101 cdotal evidence exists for reconstruction of craniofacial deformities.

102 /-) double-mutant mice were born with severe craniofacial deformity not seen in the Six1 (-/-) or Six

103 ) is a rare disease characterized by complex craniofacial, dental, cutaneous, and limb abnormalities

104 ns cause Raine syndrome, exhibiting bone and craniofacial/dental abnormalities.

105 des a systematic framework for research into craniofacial development and malformation.

106 The orchestration of craniofacial development and regulation of suture and sy

107 tracellular matrix components which regulate craniofacial development could be reactivated and play r

108 o not cause CFAs, demonstrating that correct craniofacial development depends on a pattern of bioelec

109 Craniofacial development depends on cell-cell interactio

110 morphogen gradient, genetic analyses suggest craniofacial development does not completely fit this pa

111 There may be differences in craniofacial development due to atypical growth trajecto

112 rated datasets on both normal and disordered craniofacial development in FaceBase, all freely availab

113 e-natal nicotine exposure may directly alter craniofacial development independent of the other effect

114 Craniofacial development is a complex process that invol

115 his process, the role of PDGFRbeta in murine craniofacial development is not well established.

116 Craniofacial development is regulated through dynamic an

117 to study cellular and molecular functions in craniofacial development with respect to UTX.

118 Here, we analyze a role of Tmem107 in craniofacial development with special focus on palate fo

119 efects in (1) cardiac form and function, (2) craniofacial development, (3) ionoregulation and fluid b

120 -functional regulator of HH signaling during craniofacial development, alternately promoting or restr

121 n addition to its putative roles in limb and craniofacial development, and provides a striking exampl

122 Despite the significance for craniofacial development, how genetic programs drive thi

123 ssion of ten different genetic regulators of craniofacial development, including markers of cranial n

124 evaluate the function of IFT88 in regulating craniofacial development, we generated Wnt1-Cre;Ift88fl/

125 tical pathways interact in the regulation of craniofacial development.

126 genes associated with processes involved in craniofacial development.

127 performs multiple essential functions during craniofacial development.

128 cates an essential function of scleraxis for craniofacial development.

129 viously unknown effect of Arhgap29 in murine craniofacial development.

130 GPATCH3 is a new gene involved in ocular and craniofacial development.

131 GAS1, CDON and BOC to HH-dependent mammalian craniofacial development.

132 IST1 are transcription factors necessary for craniofacial development.

133 exposure, even at low levels, can influence craniofacial development.

134 demonstrated a role for HCFC1 in vertebrate craniofacial development.

135 genome and in pathways already implicated in craniofacial development.

136 and osteochondrogenic differentiation during craniofacial development.

137 nd Fgf signaling interact synergistically in craniofacial development.

138 opus and mouse during the earliest stages of craniofacial development.

139 nd DCAF7, a scaffolding protein required for craniofacial development.

140 the comprehensive regulatory mechanisms for craniofacial development.

141 miRNAs), to study their co-regulation during craniofacial development.

142 og (HH) pathway controls multiple aspects of craniofacial development.

143 E10.5 to E14.5) might play crucial roles in craniofacial development.

144 of numerous genes essential for neural crest/craniofacial development.

145 du Cheney syndrome (HCS) is characterized by craniofacial developmental abnormalities, acro-osteolysi

146 characterized by osteoporosis and fractures, craniofacial developmental abnormalities, and acro-osteo

147 ction partly redundantly to control multiple craniofacial developmental processes and play a crucial

148 ults indicate that, departing from important craniofacial differences existing among Neanderthals and

149 surrounding the SOX9 gene result in a human craniofacial disorder called Pierre Robin sequence (PRS)

150 The craniofacial disorder mandibulofacial dysostosis Guion-A

151 Kabuki syndrome (KS) is a congenital craniofacial disorder resulting from mutations in the KM

152 Treacher Collins syndrome (TCS) is a craniofacial disorder that is characterized by the malfo

153 Kabuki syndrome, a congenital craniofacial disorder, manifests from mutations in an X-

154 tor cell population called the neural crest, craniofacial disorders are typically attributed to defec

155 lar etiology of histone-modifying enzymes in craniofacial disorders is unknown.

156 ne-gene interaction may have implications on craniofacial disorders.

157 n each gene have been identified in specific craniofacial disorders.

158 causes RCPS, and provide a paradigm to study craniofacial disorders.

159 city, a distinct phenotype relative to other craniofacial disorders.

160 n by Edn1 and points to novel candidates for craniofacial disorders.

161 arnivora), both of which exhibit substantial craniofacial diversity.

162 n syndrome (22q11DS), have cranial nerve and craniofacial dysfunction as well as disrupted suckling,

163 daptor protein 3BP2, which is mutated in the craniofacial dysmorphia syndrome cherubism.

164 >C, p.S169P) in a child with CHI and CH with craniofacial dysmorphic features, choroidal coloboma and

165 tl4 depletes 6mA and causes sublethality and craniofacial dysmorphism in incross progeny.

166 neural crest (NC) deletion of UTX, including craniofacial dysmorphism, cardiac defects, and postnatal

167 owth retardation, microcephaly, and variable craniofacial dysmorphism.

168 ticipants from nine families presenting with craniofacial dysmorphisms including cleft palate and hyp

169 Two individuals shared craniofacial dysmorphisms, including congenital microcep

170 of intellectual disability with contrasting craniofacial dysmorphisms.

171 odevelopmental disruptions with subtle or no craniofacial dysmorphology in mice.

172 dditionally, some subjects present with mild craniofacial dysmorphology, congenital cardiac anomalies

173 types of WS include cardiovascular problems, craniofacial dysmorphology, deficits in visual-spatial c

174 exibility of the joints, hypertrichosis, and craniofacial dysmorphology.

175 gille syndrome phenotypes in heart, eye, and craniofacial dysmorphology.

176 These mice developed markedly craniofacial dysplasia, scapula dysplasia, long bone len

177 identified noncoding regions are involved in craniofacial embryo development in mammals.

178 otypic matrix statistics to compare rates of craniofacial evolution and estimate evolvability in the

179 enon, and some intrinsic causes connected to craniofacial evolution have been hypothesized.

180 road sample of landbird skulls, we show that craniofacial evolution in Darwin's finches and Hawaiian

181 have similar neurodevelopmental deficits and craniofacial features and harbor deleterious variants; o

182 hrough a series of a maximum of 21 different craniofacial features.

183 The oral and craniofacial field harbors a plethora of diseases and de

184 s function is therefore essential for normal craniofacial form and function and vital for fish develo

185 Irf6 and Twist1 interact genetically during craniofacial formation.

186 re features of short stature, a recognizable craniofacial gestalt, skeletal anomalies, and congenital

187 hanisms by which these key pathways regulate craniofacial growth and maturation are largely unclear,

188 treated subjects develop different Class III craniofacial growth patterns as compared to patients sub

189 ne, and long-term safety regarding potential craniofacial growth restriction.

190 ., treatment group, time-point, gender, jaw, craniofacial growth, gingival biotype, buccal bone dehis

191 favourable growth, in comparison with normal craniofacial growth.

192 ature closure of sutures and preserve normal craniofacial growth.

193 S/ERK pathway genes, and is characterized by craniofacial, growth, cognitive and cardiac defects.

194 Dp16 mice demonstrated craniofacial hypoplasia, especially in the ventral part

195 e included in this analysis of 3-dimensional craniofacial images taken at 12 months of age.

196 y, which frequently includes combinations of craniofacial, limb and brain abnormalities not typical f

197 tribute to distinct phenotypic spectra, from craniofacial malformation and reproductive disorders to

198 acial clefting is the most common congenital craniofacial malformation, appearing in approximately 1

199 ts into the genetic aetiology of this common craniofacial malformation.

200 e and/or lip are among the most common human craniofacial malformations and involve multiple genetic

201 birth defects, congenital heart disease and craniofacial malformations are major causes of mortality

202 tudies of single-gene disorders resulting in craniofacial malformations have identified a number of c

203 mouse models of sonic hedgehog signaling and craniofacial malformations to illustrate both the import

204 phenotypes include congenital heart disease, craniofacial malformations, and neurodevelopmental disea

205 r deletion in chondrocytes, osteoblasts, and craniofacial mesenchyme ( Prx1-cKO) would phenocopy skel

206 uronan synthesis in the neural crest-derived craniofacial mesenchyme during palatogenesis in mice.

207 vide new insights into genetic background of craniofacial microsomia.

208 When the delicate process of craniofacial morphogenesis is disrupted, the result is o

209 tors independently evolved extremely similar craniofacial morphologies, and evidence suggests that th

210 an adaptively improve and normalize abnormal craniofacial morphology caused by numerous developmental

211 hts into the maintenance and manipulation of craniofacial morphology in a vertebrate system.

212 cell mobility in early embryos and abnormal craniofacial morphology in later embryos.

213 We found further evidence of disrupted craniofacial morphology in Vax1 mutants, including trunc

214 hus provides the first glimpse of the entire craniofacial morphology of the earliest known members of

215 bryos, and demonstrates that the specialized craniofacial morphology preceded the postnatal transform

216 complex and multifactorial mechanism shaping craniofacial morphology that should be considered when i

217 role for sclerostin signaling in modulating craniofacial morphology.

218 nvolution of the renal tubules, and abnormal craniofacial morphology.

219 acial pain, temporomandibular disorders, and craniofacial morphometrics.

220 Craniofacial muscle afferents project to a wide area wit

221 her delineation of neural circuits mediating craniofacial muscle hyperalgesia potentially enhances tr

222 Craniofacial muscle pain is highly prevalent in temporom

223 nced understanding of neurobiology unique to craniofacial muscle pain should lead to the development

224 cent studies to summarize neural pathways of craniofacial muscle pain.

225 ents or repeated acid injections also affect craniofacial muscle pain.

226 Nociceptive afferents in craniofacial muscles are predominantly peptidergic affer

227 in trigeminal ganglia, afferents innervating craniofacial muscles interact with surrounding satellite

228 Similarly, enhancers of genes involved in craniofacial nerve development showed convergent selecti

229 neurons would be useful in the study of the craniofacial nervous system and latent alphaherpesvirus

230 eveal large, hollow, osseous nasal crests: a craniofacial novelty for mammals that is remarkably comp

231 Humans often rank craniofacial pain as more severe than body pain.

232 of IGD, highlight the genetic links between craniofacial patterning and GnRH dysfunction and begin t

233 complex tissues, such as limb regeneration, craniofacial patterning and tumorigenesis.

234 g genes, revealing the endogenous control of craniofacial patterning by bioelectric cell states.

235 ng face and disrupts expression of important craniofacial patterning genes, revealing the endogenous

236 of dync1i2a displayed significantly altered craniofacial patterning with concomitant reduction in he

237 ish model exhibits abnormal neurogenesis and craniofacial patterning, and in vivo complementation ass

238 hanges in genes and pathways associated with craniofacial patterning.

239 eton in bptf F0 mutants, indicating abnormal craniofacial patterning.

240 sox9 rescued the zebrafish chondrogenic and craniofacial phenotype generated by ddrgk1 knockdown, th

241 and timing of prenatal alcohol exposure and craniofacial phenotype in 12-month-old children.

242 This study tests the hypothesis that the craniofacial phenotype of severe OI is linked to an over

243 e show that Fat4 and Dchs1 mutants mimic the craniofacial phenotype of the human syndrome and that Dc

244 ticular genotype results in a characteristic craniofacial phenotype.

245 lysis was performed with objective, holistic craniofacial phenotyping using dense surface models of t

246 improved efficiency and outcomes of complex craniofacial reconstruction by enabling virtual surgical

247 transplantation is a highly complex form of craniofacial reconstruction requiring significant planni

248 , the clinical standard of care in pediatric craniofacial reconstruction, with attention paid to volu

249 ely graded radiological abnormalities of the craniofacial region observed on craniofacial CT examinat

250 and genes involved in the development of the craniofacial region.

251 l base is an important growth center for the craniofacial region.

252 nclude that, among stem cells from different craniofacial regions, BMSCs appear more suitable for eng

253 The National Institute of Dental and Craniofacial Research (NIDCR) is the largest NIH support

254 through the National Institute of Dental and Craniofacial Research (NIDCR) was 6.5 times greater than

255 the CRISPR/Cas9 technique, for the oral and craniofacial research community.

256 rch in 2009 as a 'big data' resource for the craniofacial research community.

257 shed by the National Institute of Dental and Craniofacial Research in 2009 as a 'big data' resource f

258 s of Health/National Institute of Dental and Craniofacial Research invested $24 million over a 3-y pe

259 sets contributed by the spokes to facilitate craniofacial research.

260 8.3] days), a consistent association between craniofacial shape and prenatal alcohol exposure was obs

261 natomical differences in global and regional craniofacial shape between children of women who abstain

262 e a tissue-level mechanism for plasticity in craniofacial shape by measuring rates of bone deposition

263 n models included covariates known to affect craniofacial shape.

264 the relationship between this phenotype and craniofacial size remains largely unknown.

265 onstrate the important role of BMP2 in human craniofacial, skeletal, and cardiac development and conf

266 y vertebrate-specific features including the craniofacial skeleton and peripheral nervous system.

267 specification of peripheral neurons and the craniofacial skeleton as previously reported.

268 tial increase of the ceratohyal angle of the craniofacial skeleton in bptf F0 mutants, indicating abn

269 e cranial neural crest can contribute to the craniofacial skeleton in vivo.

270 The craniofacial skeleton is derived from both neural crest

271 The development of the craniofacial skeleton relies on complex temporospatial o

272 ne the extent to which the size and shape of craniofacial skeleton were altered.

273 or aplasia of multiple organs, including the craniofacial skeleton, ear, branchial arches, heart, lun

274 s expressed by the connective tissues of the craniofacial skeleton, namely, bone and dentin with high

275 st the effects of these factors on the avian craniofacial skeleton, we conducted morphometric analyse

276 velopment of adjacent regions, including the craniofacial skeleton.

277 ndously variable ectopic bone in their hyoid craniofacial skeleton.

278 mouse models of DS, may significantly affect craniofacial structure.

279 developmentally and functionally integrated craniofacial structures in these species.

280 g in significant improvements to a subset of craniofacial structures.

281 n = 79) were prospectively enrolled from the Craniofacial Surgery clinic including patients with cran

282 ghly promising technology for use in complex craniofacial surgery.

283 is study was to evaluate a novel holographic craniofacial surgical planning application and its imple

284 tologic analyses were consistent with patent craniofacial sutures.

285 sruptions have been associated with distinct craniofacial syndromes, with mutations in SIX1 associate

286 Craniofacial thylacine-wolf accelerated regions were enr

287 response to new biomaterial formulations for craniofacial tissue engineering applications.

288 eural crest cells (hNCC) and mouse embryonic craniofacial tissue.

289 Thus, investigating how malformed craniofacial tissues are naturally corrected in X. laevi

290 trols cell differentiation in ectodermal and craniofacial tissues by regulating expression of target

291 pproach to biomarker discovery in dental and craniofacial tissues which is highly relevant given that

292 f-function DNMs in genes highly expressed in craniofacial tissues, as well as genes associated with k

293 r activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple si

294 us laevis tadpoles to self-correct malformed craniofacial tissues.

295 ishing the identities and boundaries between craniofacial tissues.

296 Optogenetic activation of this monosynaptic craniofacial-to-PBL projection induced robust escape and

297 d this migration is accompanied by extensive craniofacial transformations and simultaneous developmen

298 over a 3-y period to create dental oral and craniofacial translational resource centers to facilitat

299 nvestigate how to improve the forecasting of craniofacial unbalance risk during growth among patients

300 We show that craniofacial variation is not the result of a single mec