ライフサイエンスコーパス: craniosynostosis

1 s cause premature fusion of the skull bones (craniosynostosis).

2 A4, rescues the suture boundary and inhibits craniosynostosis.

3 r-reviewed articles related to strabismus in craniosynostosis.

4 d horizontal strabismus similar to syndromic craniosynostosis.

5 echanism underlying calvarial development in craniosynostosis.

6 shown to cause syndactyly in the absence of craniosynostosis.

7 as well as skeletal abnormalities including craniosynostosis.

8 alition, conductive deafness, scoliosis, and craniosynostosis.

9 fgfr) are associated with syndromic forms of craniosynostosis.

10 logical ligand for mutant FGFRs in mediating craniosynostosis.

11 invasive treatment options for children with craniosynostosis.

12 individuals from 12 families with MGS and/or craniosynostosis.

13 been found in patients with various types of craniosynostosis.

14 Rs), another gene family implicated in human craniosynostosis.

15 (P148H) in humans affected with Boston-type craniosynostosis.

16 nt cause of apparently non-syndromic coronal craniosynostosis.

17 been reported in the Saethre-Chotzen form of craniosynostosis.

18 pressed in the developing skull also exhibit craniosynostosis.

19 ominant condition primarily characterized by craniosynostosis.

20 formations including midfacial anomalies and craniosynostosis.

21 347 samples from unrelated individuals with craniosynostosis.

22 conditions, such as acanthosis nigricans or craniosynostosis.

23 oles for dura mater or skull base changes in craniosynostosis.

24 ient mouse (Gli3(Xt-J/Xt-J)) and resulted in craniosynostosis.

25 Wnt signaling in the SAG suture phenocopies craniosynostosis.

26 rowth centers for the skull vault, result in craniosynostosis.

27 y, dysregulation of this pathway may lead to craniosynostosis.

28 which inhibits chondrogenesis, have sagittal craniosynostosis.

29 that dysregulated PDGFRalpha activity causes craniosynostosis.

30 in the neural crest compartment, results in craniosynostosis.

31 in Twist1 and EphA4 mutants is the cause of craniosynostosis.

32 suture fusion in a relevant genetic model of craniosynostosis.

33 activation of ERK1/2, significantly inhibits craniosynostosis.

34 with regard to the genetics of single-suture craniosynostosis.

35 apes caused by environmental deformation and craniosynostosis.

36 y to differentiate positional deformity from craniosynostosis.

37 ciated with significantly increased risks of craniosynostosis (115 subjects, 2 exposed to SSRIs; odds

38 uman TWIST mutations have been implicated in craniosynostosis, a cohort of 59 patients with craniosyn

39 tebrate homologs of msh, are associated with craniosynostosis, a disease affecting cranial developmen

40 Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is trea

41 craniosynostosis is the most common form of craniosynostosis, affecting approximately one in 5,000 n

42 aracteristically have frontonasal dysplasia, craniosynostosis and additional minor malformations, but

43 I between patients with successfully treated craniosynostosis and control subjects.

44 the dental and maxillofacial implications of craniosynostosis and discusses clinically relevant anima

45 mal recessively inherited neonatal diabetes, craniosynostosis and dominantly inherited renal dysplasi

46 elopment (including cleft lip and/or palate, craniosynostosis and facial dysostoses), comprise over o

47 s defines the most frequent cause of midline craniosynostosis and has implications for the genetic ba

48 tnatal lethality, skeletal dwarfism, coronal craniosynostosis and hearing loss; phenotypes that are a

49 me, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for m

50 the mouse, we found that loss of Irf6 causes craniosynostosis and mandibular hypoplasia.

51 ern of systemic malformation that associates craniosynostosis and neurodevelopmental abnormalities wi

52 ling can produce premature suture closure or craniosynostosis and other craniofacial deformities.

53 for Jacobsen syndrome, a syndrome including craniosynostosis and other developmental abnormalities.

54 mation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and fee

55 d by cutis gyrata, acanthosis nigricans, and craniosynostosis and provides a useful model for investi

56 clinically relevant animal models related to craniosynostosis and resynostosis.

57 dysmorphic syndrome characterized by coronal craniosynostosis and severe midface hypoplasia, body and

58 tinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and

59 elated autosomal dominant forms of syndromic craniosynostosis and short limb dwarfism.

60 s to address the developmental mechanisms of craniosynostosis and skull morphogenesis.

61 the genetic causes of isolated single-suture craniosynostosis and syndromic forms is discussed.

62 tiple, highly localized phenotypes including craniosynostosis and synpolydactyly.

63 describe venous malformations in humans with craniosynostosis and TWIST1 mutations that are recapitul

64 the potential role of new candidate genes in craniosynostosis and, potentially, for devising pharmaco

65 d oromotor difficulties, microcephaly and/or craniosynostosis, and cardiac defects in combination wit

66 ne formation, including shortened forelimbs, craniosynostosis, and clinodactyly.

67 umans can cause Alagille syndrome, which has craniosynostosis as a feature.

68 cts such as BMPs, our group has identified a craniosynostosis-associated secreted molecule, NELL-1, w

69 of cases of apparently non-syndromic coronal craniosynostosis attributable to this mutation.

70 framework for classifying genetic causes of craniosynostosis based on current understanding of crani

71 In contrast, Axin2-deficient mice develop craniosynostosis because of high beta-catenin activity.

72 Craniosynostosis, Boston type is an autosomal dominant d

73 ociated with the autosomal dominant disorder craniosynostosis, Boston type.

74 causes a Pfeiffer syndrome variant with mild craniosynostosis, broad thumbs and big toes, fixed exten

75 We studied 26 patients with coronal craniosynostosis but no syndromic diagnosis, who were re

76 than 100 known mutations may cause syndromic craniosynostosis, but the majority of cases are nonsyndr

77 If left untreated, craniosynostosis can cause numerous complications as rel

78 ported to cause midfacial hypoplasia in some craniosynostosis cases, but most studies focus on crania

79 d by a mutation in the FGFR3 gene, featuring craniosynostosis, characteristic facial features, and at

80 g in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, cong

81 mean (SD) age was 34.6 (45.2) months in the craniosynostosis cohort (33% female), 48.9 (83.8) months

82 tions that are associated with non-syndromic craniosynostosis conditions have statistically significa

83 order of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anom

84 ture cranial suture closure in patients with craniosynostosis (CS), one of the most common congenital

85 Activating mutations of FGFRs1-3 cause craniosynostosis (CS), the premature fusion of cranial b

86 distinct genetic condition characterized by craniosynostosis, delayed closure of the fontanel, crani

87 Indeed, many human craniosynostosis disorders have been linked to activatin

88 ver, many patients with familial or sporadic craniosynostosis do not have the classical findings of t

89 ia and premature closure of cranial sutures (craniosynostosis) due to abnormal cell proliferation and

90 BMPR1A) in cranial neural crest cells causes craniosynostosis during postnatal development.

91 zed by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal t

92 MP2 that is strongly associated with midline craniosynostosis explained nearly all the phenotypic var

93 underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level.

94 Patients with nonsyndromic craniosynostosis have an increased incidence of signific

95 several human craniofacial disorders (e.g., craniosynostosis, hemifacial microsomia), and may be rel

96 human disease syndromes, including dwarfism, craniosynostosis, heritable cancer susceptibility, venou

97 nalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome.

98 most common autosomal dominant disorders of craniosynostosis in humans and is characterized by crani

99 Overexpression of NELL-1 results in craniosynostosis in humans and mice, whereas lack of Nel

100 Erf haploinsufficiency causes craniosynostosis in humans and mice, while its absence i

101 at an important early event in MSX2-mediated craniosynostosis in humans is a transient retardation of

102 ces skeletal defects, a phenotype resembling craniosynostosis in humans.

103 of skull structures, a phenotype resembling craniosynostosis in humans.

104 n results in a gain of function and produces craniosynostosis in humans.

105 ight provide an attractive way of preventing craniosynostosis in patients.

106 That both mutant and wild-type Msx2 elicit craniosynostosis in transgenic mice and that the Boston

107 ow that inhibition of FGF signaling prevents craniosynostosis in Twist1(+/-) mice, demonstrating that

108 usion of one or more of the cranial sutures (craniosynostosis) in humans causes over 100 skeletal dis

109 ent of a murine model system of Crouzon-like craniosynostosis induced by a dominant mutation in Fgfr2

110 However, the relevance of lineage mixing in craniosynostosis induced by activating FGFR mutations is

111 Given the prenatal onset of most craniosynostosis, investigation of mechanisms requires m

112 , diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and in

113 Craniosynostosis is a common human birth defect that res

114 Craniosynostosis is a congenital disorder of premature o

115 Craniosynostosis is a prevalent human birth defect chara

116 Syndromic craniosynostosis is caused by a variety of genetic lesio

117 iogenesis--an unexpected finding, given that craniosynostosis is not usually associated with mutation

118 that the major determinant of Fgfr2-induced craniosynostosis is the failure to respond to signals th

119 Sagittal craniosynostosis is the most common form of craniosynost

120 which premature fusion of calvarial suture (craniosynostosis) is an infrequent but important feature

121 for the FGFR2 splice variant associated with craniosynostosis, is locally abundant; immunohistochemic

122 facial dysmorphism, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb

123 To study the effect of craniosynostosis-linked mutations in osteoblasts, we int

124 Similarly, mutations in TWIST1 cause craniosynostosis, mandibular hypoplasia and cleft palate

125 we propose that the functional signaling of craniosynostosis mutant, autoactive receptors is limited

126 acial Surgery clinic including patients with craniosynostosis (n = 40).

127 Gli3(Xt-J/Xt-J) Runx2(+/-) mice have neither craniosynostosis nor additional ossification centers in

128 Non-syndromic craniosynostosis (NSC) is a frequent congenital malforma

129 Craniosynostosis occurs in approximately 1 in 2,000 chil

130 that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and d

131 t there are significantly increased risks of craniosynostosis, omphalocele, or heart defects associat

132 two gene variants that rarely cause midline craniosynostosis on their own make the development of th

133 causes suture dysmorphogenesis resulting in craniosynostosis, one of the most common craniofacial de

134 ention could be applied for the treatment of craniosynostosis or other severe bone disorders caused b

135 matically grouped under the rubric Marfanoid-craniosynostosis or Shprintzen-Goldberg syndrome (SGS).

136 n children with subacute conditions, such as craniosynostosis or tumor, may enable timely interventio

137 Craniosynostosis, or premature cranial suture fusion, re

138 reviously linked to azole antifungal agents: craniosynostosis, other craniofacial defects, middle-ear

139 it a substantial increase in the severity of craniosynostosis over individual heterozygotes.

140 th factor receptor type 2 (FGFR2) gene cause craniosynostosis, particularly affecting the coronal sut

141 The craniosynostosis patient was chromosomally XY, but prese

142 with Saethre-Chotzen syndrome and in 2 of 43 craniosynostosis patients with no clear diagnosis.

143 trabismus is necessary to preserve vision in craniosynostosis patients.

144 be explored in order to improve outcomes for craniosynostosis patients.

145 ature bone formation in calvarial sutures of craniosynostosis patients.

146 or tissue engineering of cranial sutures for craniosynostosis patients.

147 ng that Runx2 haploinsufficiency rescued the craniosynostosis phenotype of Axin2(-/-) mice.

148 Msx2 function and thus leads to the dominant craniosynostosis phenotype.

149 ance, the cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac d

150 Apert syndrome (AS) is characterized by craniosynostosis (premature fusion of cranial sutures) a

151 whose mutations cause different syndromes of craniosynostosis (premature fusion of cranial sutures) h

152 2,3,4,5,6,7), causes complex craniosynostosis (premature fusion of the cranial suture

153 rt syndrome, one of the most severe forms of craniosynostosis, primarily caused by missense mutations

154 Indeed, patients with OD present with craniosynostosis, prominent supraorbital ridge, and depr

155 isorders of premature cranial suture fusion (craniosynostosis) provide one route to the identificatio

156 Most cases of craniosynostosis require complex cranial vault reconstru

157 skull development and suggests that PFM and craniosynostosis result, respectively, from loss and gai

158 rate a pathogenic role for ERK activation in craniosynostosis resulting from FGFR2 with the S252W sub

159 association study for nonsyndromic sagittal craniosynostosis (sNSC) using 130 non-Hispanic case-pare

160 ho have a distinct phenotype in which severe craniosynostosis, specifically involving the coronal sut

161 -Chotzen syndrome (typically associated with craniosynostosis), substitutions uniquely affecting the

162 effect of the FGFR2C278F mutation of Crouzon craniosynostosis syndrome on receptor trafficking, ubiqu

163 Kusick MIM 101,600) is an autosomal dominant craniosynostosis syndrome with characteristic craniofaci

164 Craniosynostosis syndrome-linked FGFR mutations have bee

165 e aromatase excess syndrome and the sagittal craniosynostosis syndrome-or a variant of the Antley-Bix

166 mations resembling facial dysmorphologies in craniosynostosis syndrome.

167 pert syndrome (AS) is one of the most severe craniosynostosis syndromes and is associated with severe

168 Craniosynostosis syndromes are autosomal dominant human

169 owth factor receptor 2 (FGFR2) cause several craniosynostosis syndromes by affecting the proliferatio

170 wth factor receptors (FGFRs) cause the major craniosynostosis syndromes implicates FGF-mediated signa

171 r 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS)

172 ations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffe

173 The identification in craniosynostosis syndromes of mutations in genes belongi

174 aniosynostosis, a cohort of 59 patients with craniosynostosis syndromes were screened for SNAIL mutat

175 ve been linked to a series of syndromes (the craniosynostosis syndromes) whose primary phenotype invo

176 GF) receptors result in chondrodysplasia and craniosynostosis syndromes, highlighting the critical ro

177 result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectively.

178 Human craniosynostosis syndromes, resulting from activating or

179 variety of short-limbed bone dysplasias and craniosynostosis syndromes.

180 r (FGF) receptors cause chondrodysplasia and craniosynostosis syndromes.

181 (FGFR2) gene have been implicated in various craniosynostosis syndromes.

182 stinguishable on a clinical basis from other craniosynostosis syndromes.

183 r 2 (FGFR2) gene have been described in five craniosynostosis syndromes.

184 do not have the classical findings of those craniosynostosis syndromes.

185 hromosome 4p, in ten unrelated families with craniosynostosis syndromes.

186 Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine

187 omeodomain mutation (P148H), associated with craniosynostosis, that binds with enhanced affinity to t

188 Craniosynostosis, the fusion of one or more of the sutur

189 Craniosynostosis, the premature fusion of cranial bones,

190 Craniosynostosis, the premature fusion of one or more ca

191 Craniosynostosis, the premature fusion of one or more cr

192 Craniosynostosis, the premature fusion of the calvarial

193 Craniosynostosis, the premature fusion of the cranial su

194 nial sutures in both human and mouse induces craniosynostosis, the premature fusion of the growing cr

195 ted individuals range from syndromic coronal craniosynostosis to severe growth restriction, fulfillin

196 lopment and figure in the pathophysiology of craniosynostosis was suggested by the demonstration that

197 to the etiology of Axin2 deficiency-induced craniosynostosis, we generated Axin2(-/-):Runx2(+/-) mic

198 non-syndromic midline (sagittal and metopic) craniosynostosis, we performed exome sequencing of 132 p

199 To elucidate the mechanism of craniosynostosis, we studied intramembranous ossificatio

200 t FGFR2c binding to multiple FGFs results in craniosynostosis, whereas binding of mutant FGFR2c to FG

201 R2 cause the majority of syndromes involving craniosynostosis, whereas the dwarfing syndromes are lar

202 aethre-Chotzen Syndrome and is manifested by craniosynostosis, which is the premature closure of the

203 m alone is necessary and sufficient to cause craniosynostosis, while mutation of the neural crest is

204 anium, we found a midline sutural defect and craniosynostosis with abnormal osteoblastic proliferatio

205 ler US can be used to identify patients with craniosynostosis with decreased intracranial compliance,

206 rtained in a boy with mild Crouzon syndrome (craniosynostosis with normal limbs) is also present in t

207 gest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or

208 fer syndrome family in which two members had craniosynostosis without limb anomalies.