ライフサイエンスコーパス: craniofacial

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

2 l subjects; (4) although there were no major craniofacial abnormalities in most of the adolescents wi

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

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

5 The specific nature of the craniofacial abnormalities suggests that crude oil may t

6 , we have traced the origin of DS-associated craniofacial abnormalities to deficiencies in neural cre

7 Further, the hcfc1b-mediated craniofacial abnormalities were rescued by expression of

8 ) and Ets1(+/-)Fli1(+/-) mice also displayed craniofacial abnormalities, including a small middle ear

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

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

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

12 was sufficient to create severe cardiac and craniofacial abnormalities.

13 d by multiple congenital anomalies including 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 Its craniofacial anatomy reveals that it was herbivorous, la

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

20 , but larval mahi did not exhibit downstream craniofacial and body axis abnormalities.

21 es suggests that crude oil may target common craniofacial and cardiac precursor cells either directly

22 of immune function is preserved), as well as craniofacial and dermal abnormalities and the absence of

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

24 /2 activation, affecting axis elongation and craniofacial and limb development and providing a bioche

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

26 recessive condition mainly characterized by craniofacial and limb malformations.

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

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

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

30 n the embryonic mouse ectoderm triggers both craniofacial and skin defects, including hyperproliferat

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

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

33 hypotonia, SNHL, retinopathy, and skeletal, craniofacial, and liver abnormalities.

34 y promising for bone regeneration in dental, craniofacial, and orthopedic applications.

35 hreatening progressive expansion of the jaw, craniofacial, and other intramembranous bones caused by

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

37 of Andersen-Tawil Syndrome (ATS)-associated craniofacial anomalies (CFAs) because (1) Kcnj2 is expre

38 Craniofacial anomalies account for approximately one-thi

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

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

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

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

43 ameliorates or prevents the pathogenesis of craniofacial anomalies in Tcof1(+/-) mice.

44 ly p16Ink4a deficiency, markedly reduced the craniofacial anomalies of TASP1-deficent mice.

45 ible unless they met the exclusion criteria: craniofacial anomalies, chromosomal disorders, hemolytic

46 ith a novel recessive syndrome consisting of craniofacial anomalies, intellectual disability and neur

47 , including skeletal dysplasia, polydactyly, craniofacial anomalies, kidney cysts and eye defects.

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

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

50 ed skeletal precursor cells and consequently craniofacial anomalies.

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

52 No midline craniofacial anomaly was seen.

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

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

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

56 growth and fusion, is one of the most common craniofacial birth defects.

57 stem cell isolation, reconstruction of large craniofacial bone defects remains highly challenging.

58 s of great interest to restore lost teeth or craniofacial bone defects using stem cell-mediated thera

59 collagen secretion into broader programs of craniofacial bone formation.

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

61 e concerning the various types of tooth- and craniofacial bone-related stem cells and discuss their i

62 enetic disorder encompassing hyperostosis of craniofacial bones and metaphyseal widening of tubular b

63 HSCs in craniofacial bones have functional implications in homeo

64 utation associated with AFND may lead to the craniofacial, brain and limb malformations through the d

65 stetric fistula, neurosurgery, urology, ENT, craniofacial, burn, and general surgery) totalled revenu

66 This study evaluated associations between craniofacial candidate genes and skeletal variation in p

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 ), resulted in cardiac hypoplasia, deficient craniofacial cartilage deposition and impaired branchial

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

72 in neural crest specification, migration and craniofacial cartilage formation.

73 ckdown of tapt1b in zebrafish induces severe craniofacial cartilage malformations and delayed ossific

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

75 mbryo development including the formation of craniofacial cartilage.

76 Craniofacial characteristics are highly informative for

77 ly and quantitatively annotate divergence of craniofacial cis-regulatory landscapes.

78 te the role of DSPP on the developing dental-craniofacial complex, we evaluated phenotypic changes in

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

80 elopment and pituitary oral ectoderm exhibit craniofacial defects and pituitary gland dysmorphology,

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

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

83 n of both genes in mice resulted in profound craniofacial defects including cleft secondary palate.

84 Congenital brain and craniofacial defects often occur together as a consequen

85 ction and morphogenesis, characterized novel craniofacial defects, and examined the expression of gen

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

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

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

89 ing potential targets underlying cardiac and craniofacial defects.

90 lformations, heart outflow tract defects and craniofacial defects.

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

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

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

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

95 cher Collins syndrome (TCS) is a disorder of craniofacial development and although TCS arises primari

96 inct human HCFC1 mutations for their role in craniofacial development and demonstrated variable effec

97 f roles for translational machinery in human craniofacial development and disease.

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

99 es our understanding of the genetic basis of craniofacial development and might ultimately lead to im

100 d regulation of EDNRA signaling during human craniofacial development and suggest that modification o

101 and are characterized by defects in limb and craniofacial development as well as mental retardation.

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

103 Craniofacial development depends on cell-cell interactio

104 e effects on MMACHC expression in humans and craniofacial development in zebrafish.

105 Craniofacial development is a complex morphogenetic proc

106 Craniofacial development is a complex process that invol

107 Xenopus laevis craniofacial development is a good system for the study

108 Craniofacial development is an intricate process of patt

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

110 hat encodes a transcription factor affecting craniofacial development is strongly associated with bea

111 sible for many BPES cases, how FOXL2 affects craniofacial development remain to be understood.

112 of MAPRE2 mutations in a zebrafish model of craniofacial development shows that the variants most li

113 proliferation of dental progenitor cells and craniofacial development through miR-96-5p and PITX2.

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

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

116 ns and targets are outlined in neurogenesis, craniofacial development, and germ cell differentiation.

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

118 f and Pdgfra mutants interact genetically in craniofacial development, but Srf and Fgfr1 mutants do n

119 led to defects in mid- and hindbrain and in craniofacial development, but was insufficient to cause

120 risk loci and suggest new genes involved in craniofacial development, confirming the highly heteroge

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

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

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

124 the mechanisms underlying RTK specificity in craniofacial development, we performed RNA-seq to deline

125 nd Fgf signaling interact synergistically in craniofacial development.

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

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

128 em induced late in neurulation do not affect craniofacial development.

129 viously unknown effect of Arhgap29 in murine craniofacial development.

130 otolith defects and abnormal renal, head and craniofacial development.

131 ng of the molecular regulatory mechanisms of craniofacial development.

132 helping to increase understanding of normal craniofacial development.

133 esent a gene expression atlas of early mouse craniofacial development.

134 r providing the master genetic blueprint for craniofacial development.

135 of hcfc1b specifically results in defects in craniofacial development.

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

137 IST1 are transcription factors necessary for craniofacial development.

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

139 demonstrated a role for HCFC1 in vertebrate craniofacial development.

140 genome and in pathways already implicated in craniofacial development.

141 and osteochondrogenic differentiation during craniofacial development.

142 , is designed to accelerate understanding of craniofacial developmental biology by generating compreh

143 m genes, highlighting combined impact on the craniofacial developmental network and the general metab

144 m to establish its role in odontogenesis and craniofacial developmental.

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

146 article, we report a clinically recognizable craniofacial disorder characterized by facial dysmorphis

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

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

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

150 outh has significant ramifications, and many craniofacial disorders have been associated with defects

151 e review recent studies in which modeling of craniofacial disorders in primary patient cells, patient

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

153 have been made in the clinical management of craniofacial disorders, but currently very few treatment

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

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

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

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

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

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

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

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

162 tic disorder characterized by short stature, craniofacial dysmorphism, and congenital heart defects.

163 l delay including profound speech delay, and craniofacial dysmorphism, as well as more varied feature

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

165 ns included failure to thrive, microcephaly, craniofacial dysmorphism, progressive psychomotor disabi

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

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

168 ht into a variety of previously understudied craniofacial dysostoses and result in significantly impr

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

170 Furthermore, we confirmed multiple novel craniofacial enhancers near the genes implicated in huma

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

172 In the presence of craniofacial FD during CT or MRI imaging of the head, a

173 dness, appearance, and sex of the cases with craniofacial FD.

174 sive spasticity of lower limbs, and abnormal craniofacial features in adults.

175 The resultant craniofacial features in all individuals with Ts21 may s

176 lopment is important for establishing normal craniofacial features including development of the brain

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

178 n this retrospective review of patients with craniofacial fibrous dysplasia (FD), the clinical and ra

179 Irf6 and Twist1 interact genetically during craniofacial formation.

180 single-nucleotide polymorphisms (SNPs) in 71 craniofacial genes and loci.

181 We present recent findings in craniofacial genetics and discuss how this information t

182 es functionally salient natural variation in craniofacial geometry.

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

184 defective formation of salivary, mammary and craniofacial glands.

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

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

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

188 In addition to craniofacial, intellectual, and cardiac defects, KS is a

189 nd intrathecal prophylaxis in extralymphatic craniofacial involvement (ECFI) of aggressive B-cell lym

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

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

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

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

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

195 The 7-year-old boy had short stature and craniofacial malformations including macrocephaly, midfa

196 In humans, syndromic craniofacial malformations often accompany jaw anomalies

197 o-facial syndrome), whose phenotypes include craniofacial malformations such as dental defects and cl

198 Craniofacial malformations that occur because of abnorma

199 , loss of TASP1 function led to catastrophic craniofacial malformations that were associated with ina

200 to multiple congenital anomalies, including craniofacial malformations, neurological dysfunction and

201 erized by small palpebral fissures and other craniofacial malformations, often with (type I) but coul

202 ic misregulation of these processes leads to craniofacial malformations, which comprise over one-thir

203 n this review, we focus on dental, oral, and craniofacial manifestations of rare bone diseases.

204 transgenic mice to inactivate Fam20C in the craniofacial mesenchymal cells that form dentin and alve

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

206 tion between PDGFRalpha and PDGFRbeta in the craniofacial mesenchyme and demonstrate that the recepto

207 FRalpha and PDGFRbeta are coexpressed in the craniofacial mesenchyme of mid-gestation mouse embryos a

208 n factor expressed in the developing lateral craniofacial mesenchyme, retina and sensory ganglia.

209 Craniofacial microsomia (CFM) is a rare congenital anoma

210 vide new insights into genetic background of craniofacial microsomia.

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

212 To understand the role of SPECC1L in craniofacial morphogenesis, we generated a mouse model o

213 evel of BMP signaling is required for proper craniofacial morphogenesis.

214 principal TASP1 substrate that orchestrates craniofacial morphogenesis.

215 the study of ion-dependent signalling during craniofacial morphogenesis; (3) as in humans, expression

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

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

218 between CNCCs and muscle progenitors during craniofacial muscle development is largely unknown.

219 iferation and differentiation defects in the craniofacial muscles of Alk5 mutant mice in vitro.

220 The development of the craniofacial muscles requires reciprocal interactions wi

221 late the development of the tongue and other craniofacial muscles using Wnt1-Cre; Alk5(fl/fl) mice, i

222 hat CNCCs play critical roles in controlling craniofacial myogenic proliferation and differentiation

223 multiple tissues including eye, heart, ear, craniofacial nerves and skeleton and genital organs.

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

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

226 ons in tissues and organs other than neural, craniofacial, oocytes, and germ cells is largely unexplo

227 elated clinical conditions generally without craniofacial or multi-system malformations include Kallm

228 nce professions), and clinical approaches to craniofacial-oral-dental health care?

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

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

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

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

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

234 hanges in genes and pathways associated with craniofacial patterning.

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

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

237 mutations and displays a largely overlapping craniofacial phenotype, but it is not characterized by g

238 ore, prenatal EGCG treatment normalized some craniofacial phenotypes, including cranial vault in adul

239 ain abnormalities, kdm6a morphants exhibited craniofacial phenotypes, whereas kdm6al morphants had pr

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

241 s to deficiencies in neural crest cell (NCC) craniofacial precursors early in development.

242 Trisomy 21 (Ts21) affects craniofacial precursors in individuals with Down syndrom

243 The necessity to develop new approaches for craniofacial reconstruction arises from the fact that tr

244 Craniofacial reconstructive surgery requires a bioactive

245 , their clinical use could be considered for craniofacial regenerative therapies.

246 In the craniofacial region, various stem cell populations have

247 he postmigratory neural crest populating the craniofacial region, we studied two mouse models: Wnt1-C

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

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

250 nded by the National Institute of Dental and Craniofacial Research, National Institutes of Health, is

251 sets contributed by the spokes to facilitate craniofacial research.

252 8.3] days), a consistent association between craniofacial shape and prenatal alcohol exposure was obs

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

254 n models included covariates known to affect craniofacial shape.

255 tanding of the mechanisms that fine-tune the craniofacial skeletal complex during adaptation to new f

256 MYO1H, TWIST1, and PAX7 are associated with craniofacial skeletal variation among patients with malo

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

258 ple roles of Noggin in different domains for craniofacial skeletogenesis, and suggest an indirect mec

259 urther elucidation of the stem cell-mediated craniofacial skeletogenesis, leading to revealing the co

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

261 40-5p is shown to exert a dramatic impact on craniofacial skeleton formation.

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

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

264 The craniofacial skeleton is derived from both neural crest

265 he BMP antagonist Noggin in formation of the craniofacial skeleton remain unclear, in part because of

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

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

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

269 for both form and function of the mammalian craniofacial skeleton, which consists of more than twent

270 ndously variable ectopic bone in their hyoid craniofacial skeleton.

271 in morphological defects to the pouches and craniofacial skeleton.

272 tribute to the peripheral nervous system and craniofacial skeleton.

273 cents with OSAS, the ratio of soft tissue to craniofacial space surrounding the airway was increased;

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

275 e thought to have facilitated development of craniofacial structures and the peripheral nervous syste

276 in turn leads to alterations of cerebral and craniofacial structures in vivo.

277 cellular interactions naturally occurring in craniofacial structures represents one of the greatest c

278 e affected in individuals with KS, including craniofacial structures, heart and brain.

279 ural crest migration and proper formation of craniofacial structures, pigment cells, and the outflow

280 issues such as the eye, kidney, skeleton and craniofacial structures.

281 oprinting technology for the regeneration of craniofacial structures.

282 ing for researchers coming into the field of craniofacial studies.

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

284 bias was assessed regarding individuals with craniofacial syndromes, prior extraction of permanent te

285 loss and is a common feature of a number of craniofacial syndromes, such as 22q11.2 Deletion Syndrom

286 We determined that the zebrafish craniofacial tendon and ligament progenitors are neural

287 3D biomanufacturing of scaffolds, as well as craniofacial tissue analogs.

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

289 ategies that will promote the translation of craniofacial tissue engineering from the laboratory benc

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

291 Craniofacial tissues are organized with complex 3-dimens

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

293 in both the maintenance and healing of these craniofacial tissues is summarized, and the therapeutic

294 situ hybridization measurements in embryonic craniofacial tissues showed that the orthologous region

295 res reciprocal interactions with surrounding craniofacial tissues that originate from cranial neural

296 molecular maps of Wnt responsiveness in the craniofacial tissues, and these patterns of Wnt signalin

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

298 nd over-expression mice, consistent with the craniofacial/tooth defects associated with TBX1 deletion

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

300 slation with PBM therapy with an emphasis on craniofacial wound healing.