ライフサイエンスコーパス: microphthalmia

1 fying the various causes of anophthalmia and microphthalmia.

2 f axial length in individuals with posterior microphthalmia.

3 ions in these genes play in anophthalmia and microphthalmia.

4 urn lead to congenital ocular colobomata and microphthalmia.

5 cycle exit is compromised, which results in microphthalmia.

6 tion, leading ultimately to a small lens and microphthalmia.

7 dorsally expressed gene implicated in human microphthalmia.

8 single Fgfr1 allele developed cataracts and microphthalmia.

9 cause severe head and eye defects, including microphthalmia.

10 epithelium of the eye, causing the observed microphthalmia.

11 n eye development and showed anophthalmia or microphthalmia.

12 in lens fiber development along with severe microphthalmia.

13 yo demonstrates defective lens formation and microphthalmia.

14 Gas1 mutant mice have microphthalmia.

15 in the homozygous state causes cataract and microphthalmia.

16 d vessels, defective retinal vasculature and microphthalmia.

17 with unilateral or bilateral anophthalmia or microphthalmia.

18 ing in severe orofacial clefting and extreme microphthalmia.

19 e RPE results in RPE apoptosis, aniridia and microphthalmia.

20 anencephaly with absence of the head (6.6%), microphthalmia (4.9%), and micrognathia (1.6%).

21 with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the i

22 Microphthalmia, a bHLH-zip transcription factor associat

23 dation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic ner

24 demonstrated by lack of detectable levels of microphthalmia, a transcription factor that is a marker

25 pmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD)

26 ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous disorders with fr

27 The unique features, including unilateral microphthalmia and anterior segment dysgenesis, were unl

28 he RPE rescues the RPE morphology, aniridia, microphthalmia and anterior vasoproliferation, but does

29 bp deletion in YAP1 in a boy with bilateral microphthalmia and bilateral chorioretinal coloboma.

30 in that mice were smaller and they developed microphthalmia and cardiac disease.

31 ardiac and ophthalmologic anomalies, such as microphthalmia and cataract.

32 the targeted deletion of Sox1 in mice causes microphthalmia and cataract.

33 rior and posterior segment disorders such as microphthalmia and coloboma.

34 ental eye disorders, including anophthalmia, microphthalmia and coloboma.

35 nesis/hypoplasia (positive) and anophthalmia/microphthalmia and gastroschisis (negative).

36 Cx50-null mice exhibited microphthalmia and nuclear cataracts.

37 iously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo mis

38 t:Mash1 transgenic founders exhibit variable microphthalmia and patchy coat color hypopigmentation.

39 ural tube, and null Mitf mutations result in microphthalmia and pigmentation defects.

40 re homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment.

41 defects in retinoblast proliferation lead to microphthalmia and to an absence of nearly all different

42 mozygous for the transgene, developed severe microphthalmia and were significantly smaller than the c

43 Coloboma is often associated with microphthalmia and/or contralateral anophthalmia.

44 toreceptor defects, oculocutaneous albinism, microphthalmia, and colobomas.

45 unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibro

46 g cystic kidney, craniofacial malformations, microphthalmia, and preaxial polydactyly of the right hi

47 e absence of choriocapillaris, occurrence of microphthalmia, and the loss of visual function.

48 cy of either SOX2 or PAX6 is associated with microphthalmia, anophthalmia or aniridia.

49 disorders, including the group classified as microphthalmia, anophthalmia, and coloboma (MAC) and inh

50 Included in the study were 141 patients with microphthalmia, anophthalmia, and coloboma disease witho

51 Microphthalmia, anophthalmia, and coloboma form an inter

52 Three microphthalmia/anophthalmia loci have been identified, a

53 Isolated human microphthalmia/anophthalmia, a cause of congenital blind

54 inant, male-lethal syndrome characterized by microphthalmia, aplastic skin and agenesis of the corpus

55 Anophthalmia and microphthalmia are among the most common ocular birth de

56 ations of a dysplastic disc and colobomatous microphthalmia are rarely reported in patients with Kabu

57 Microphthalmias are rare disorders whose genetic bases a

58 expression to <40% of normal causes variable microphthalmia as a result of aberrant neural progenitor

59 We identified Microphthalmia as the affected, downregulated transcript

60 irection to the nucleus to interact with the microphthalmia associated transcription factor (MITF).

61 ytes via activation of melanocyte-restricted microphthalmia-associated transcription factor (M-MITF)

62 Microphthalmia-associated transcription factor (MITF) ac

63 xpression in the RPE of transgenic mice, and microphthalmia-associated transcription factor (MITF) an

64 The transcription factors microphthalmia-associated transcription factor (Mitf) an

65 gulation of two important signaling factors, microphthalmia-associated transcription factor (MITF) an

66 Among them, microphthalmia-associated transcription factor (MITF) an

67 ility to potently downregulate expression of microphthalmia-associated transcription factor (MITF) an

68 ific expression in the eye, and we suggested microphthalmia-associated transcription factor (MITF) as

69 expression of the lineage survival oncogene microphthalmia-associated transcription factor (MITF) co

70 Increased expression of the Microphthalmia-associated transcription factor (MITF) co

71 g mediator of cell death (BIM) induction and microphthalmia-associated transcription factor (MITF) do

72 Interestingly, 3BP2 silencing decreased microphthalmia-associated transcription factor (MITF) ex

73 ntly a candidate approach was used to select microphthalmia-associated transcription factor (MITF) fo

74 e Type 2 is caused by mutations in the human Microphthalmia-associated transcription factor (MITF) ge

75 otic gene 3 (PAX3) is a key regulator of the microphthalmia-associated transcription factor (Mitf) in

76 The microphthalmia-associated transcription factor (MITF) is

77 Microphthalmia-associated transcription factor (MITF) is

78 Microphthalmia-associated transcription factor (MITF) is

79 Microphthalmia-associated transcription factor (MiTF) is

80 , we show that the lineage survival oncogene microphthalmia-associated transcription factor (MITF) is

81 The microphthalmia-associated transcription factor (MITF) is

82 The Microphthalmia-associated transcription factor (Mitf) is

83 Microphthalmia-associated transcription factor (MITF) is

84 Here, we show that the microphthalmia-associated transcription factor (Mitf) is

85 The transcription factor Microphthalmia-associated transcription factor (MITF) is

86 The microphthalmia-associated transcription factor (Mitf) is

87 Microphthalmia-associated transcription factor (MITF) is

88 Microphthalmia-associated transcription factor (MITF) is

89 The microphthalmia-associated transcription factor (MITF) is

90 The microphthalmia-associated transcription factor (MITF) is

91 The microphthalmia-associated transcription factor (MITF) is

92 Microphthalmia-associated transcription factor (MITF) is

93 Microphthalmia-associated transcription factor (MITF) is

94 The microphthalmia-associated transcription factor (MITF) is

95 ), developmental and oncogenic roles for the microphthalmia-associated transcription factor (MITF) pa

96 Microphthalmia-associated transcription factor (MITF) pl

97 The microphthalmia-associated transcription factor (MITF) pr

98 reveals that the melanocyte master regulator microphthalmia-associated transcription factor (MITF) pr

99 Microphthalmia-associated transcription factor (MITF) re

100 Microphthalmia-associated transcription factor (Mitf) re

101 s overexpressing the teneurin-1 ICD, several microphthalmia-associated transcription factor (MITF) ta

102 PROM1); ribosomal protein L13A (RPL13A); and microphthalmia-associated transcription factor (MITF) we

103 tfa gene encodes a zebrafish ortholog of the microphthalmia-associated transcription factor (Mitf) wh

104 the nucleus, thereby reducing expression of microphthalmia-associated transcription factor (MITF), a

105 munohistochemical stains for MART-1, HMB-45, microphthalmia-associated transcription factor (MiTF), a

106 at results in a decrease in beta-catenin and microphthalmia-associated transcription factor (MITF), a

107 fenib resistance correlated with the loss of microphthalmia-associated transcription factor (MITF), a

108 ding a key regulator of RPE gene expression, microphthalmia-associated transcription factor (MITF), c

109 Microphthalmia-associated transcription factor (Mitf), d

110 We found that the transcription factor, microphthalmia-associated transcription factor (MITF), i

111 phosphorylation of p38 MAPK, which activates microphthalmia-associated transcription factor (MITF), k

112 n is associated with increased expression of microphthalmia-associated transcription factor (Mitf), w

113 6) in the melanoma-lineage-specific oncogene microphthalmia-associated transcription factor (MITF).

114 tive stress results in reduced expression of microphthalmia-associated transcription factor (MITF).

115 reas via the suppression of beta-catenin and microphthalmia-associated transcription factor (MITF).

116 oximately 6 microm) with their substrate the microphthalmia-associated transcription factor (MITF).

117 sed invasion and, often, decreased levels of microphthalmia-associated transcription factor (MITF).

118 -211, a known target of the master regulator microphthalmia-associated transcription factor (MITF).

119 nin formation in melanocytes by inducing the microphthalmia-associated transcription factor (MITF).

120 ssion of mast cell-specifying genes Hes1 and microphthalmia-associated transcription factor (Mitf).

121 for the expression of the RPE key regulator microphthalmia-associated transcription factor (Mitf); h

122 blue) and immunohistochemical probes (S-100, microphthalmia-associated transcription factor [MiTF], H

123 through beta-catenin-mediated regulation of microphthalmia-associated transcription factor activity,

124 Regulation of TPH via microphthalmia-associated transcription factor and L-typ

125 Among the SKI targets were microphthalmia-associated transcription factor and Nr-CA

126 c acid, lipoic acid, and resveratrol reduced microphthalmia-associated transcription factor and tyros

127 ss the protein and mRNA expression levels of microphthalmia-associated transcription factor and tyros

128 e supporting the concept that the effects on microphthalmia-associated transcription factor are depen

129 ETV1 overexpression elevated microphthalmia-associated transcription factor expressio

130 functions by initially stimulating levels of microphthalmia-associated transcription factor expressio

131 Changes in endogenous microphthalmia-associated transcription factor expressio

132 Our findings suggest that modulation of microphthalmia-associated transcription factor expressio

133 Silencing of tyrosinase or microphthalmia-associated transcription factor further d

134 cultures, cAMP-induced transcription of the microphthalmia-associated transcription factor gene (Mit

135 in traditional Chinese medicine, upregulated microphthalmia-associated transcription factor gene expr

136 tion and further confirm the central role of microphthalmia-associated transcription factor in melano

137 The microphthalmia-associated transcription factor is implic

138 Microphthalmia-associated transcription factor is though

139 noma and inversely correlates with FOXO3 and microphthalmia-associated transcription factor levels.

140 duced by a DGK inhibitor, but tyrosinase and microphthalmia-associated transcription factor messenger

141 The microphthalmia-associated transcription factor Mitf has

142 ced tanning response, we show that while the microphthalmia-associated transcription factor Mitf regu

143 h tooth shape; one region contained the gene microphthalmia-associated transcription factor Mitf that

144 promoter, we identified agents that modulate microphthalmia-associated transcription factor promoter

145 luciferase reporter construct driven by the microphthalmia-associated transcription factor promoter,

146 Incubation with 8MOP stimulated microphthalmia-associated transcription factor protein a

147 sphodiesterase 4D3 inhibitors, T-oligos, and microphthalmia-associated transcription factor regulator

148 Overexpressed microphthalmia-associated transcription factor was capab

149 he essential osteoclast transcription factor microphthalmia-associated transcription factor were incr

150 Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because

151 Mutations in MITF (microphthalmia-associated transcription factor) and PAX3

152 ompanied by increased transcription of MITF (microphthalmia-associated transcription factor) and tyro

153 tified the melanocyte master regulator MITF (microphthalmia-associated transcription factor) as the t

154 MITF (microphthalmia-associated transcription factor) encodes

155 0, controls the expression of another, MITF (microphthalmia-associated transcription factor), which i

156 in copper status affected the expression of microphthalmia-associated transcription factor, a transc

157 in and immunohistochemical markers (melan-A, microphthalmia-associated transcription factor, and SRY-

158 ult and neonatal melanocytes, SOX9 regulates microphthalmia-associated transcription factor, dopachro

159 ression of the melanocyte determining factor microphthalmia-associated transcription factor, elevated

160 In vivo Brn-2 represses expression of the microphthalmia-associated transcription factor, MITF, to

161 virus (SFFV) proviral integration 1 (PU.1), microphthalmia-associated transcription factor, NF-kappa

162 ag GTPases bound and regulated activation of microphthalmia-associated transcription factor, suggesti

163 on of the master regulator of melanogenesis, microphthalmia-associated transcription factor, thus sti

164 se that co-expressed SOX2 and either CK20 or microphthalmia-associated transcription factor, which ar

165 pment from the neural crest, SOX10 regulates microphthalmia-associated transcription factor, which co

166 se element-binding protein and expression of microphthalmia-associated transcription factor, which en

167 igration and survival by directly repressing microphthalmia-associated transcription factor-M and FOX

168 FOXO3, whereas enhanced expression of either microphthalmia-associated transcription factor-M or FOXO

169 nd is not dependent on the central regulator microphthalmia-associated transcription factor.

170 AMP response element-binding protein and the microphthalmia-associated transcription factor.

171 developing retina led to varying degrees of microphthalmia at birth, presumably because of elevated

172 that Fz5(-/-) mice exhibit mild coloboma and microphthalmia at ~50% penetrance.

173 The Microphthalmia basic-Helix-Loop-Helix-Leucine Zipper (bH

174 oter region of Mlsn1 contains four potential microphthalmia binding sites including an M box, a trans

175 lecular characterization of the semidominant Microphthalmia(brwnish) (Mi(b)) mutation.

176 s (cataract, anterior segment dysgenesis and microphthalmia) co-segregated with a translocation, t(5;

177 Microphthalmia, coloboma and persistent fetal vasculatur

178 ve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corne

179 n with presumed male lethality and comprises microphthalmia, congenital cataracts, radiculomegaly, an

180 ed male-lethal disorder also known as MIDAS (microphthalmia, dermal aplasia, and sclerocornea).

181 ) mouse mutant is characterized by bilateral microphthalmia due to a failure of lens morphogenesis.

182 Adult CREB-2-/- mice displayed microphthalmia due to the complete absence of a lens.

183 major defects in eye development, including microphthalmia, failed lens differentiation, and hyperpl

184 The mice had microphthalmia; fibrovascular, retrolental tissue contai

185 ened 75 individuals with anophthalmia and/or microphthalmia for mutations in the human RAX gene.

186 o interrogate patients with anophthalmia and microphthalmia for new causative genes.

187 elanocytes; mice deficient for a functional (Microphthalmia) gene product lack all pigment cells.

188 th autosomal-dominant bilateral colobomatous microphthalmia in a large multiplex family.

189 ations in the related human CHX10 gene cause microphthalmia in a subset of families, and, therefore,

190 sx2 gene resulted in optic nerve aplasia and microphthalmia in all transgenic animals.

191 ly, thalidomide-induced limb deformities and microphthalmia in chicken embryos could be rescued by a

192 anterior polar cataract in heterozygotes and microphthalmia in homozygotes.

193 ions in MITF have never been associated with microphthalmia in humans.

194 lity to identify a cause of anophthalmia and microphthalmia in many individuals.

195 arallels between transcription regulation by Microphthalmia in melanocytes and MyoD in muscle cells a

196 partment resulted in bilateral cataracts and microphthalmia in mice by 2 weeks of age.

197 st for all individuals with anophthalmia and microphthalmia in order to provide appropriate managemen

198 in renal cells and with pronephric cysts and microphthalmia in zebrafish embryos.

199 resultant mutant protein caused coloboma and microphthalmia in zebrafish, and disruption of the apica

200 birth defects, such as limb truncations and microphthalmia, in humans.

201 lly phenocopies the rx3 mutation, leading to microphthalmia, incomplete eye maturation, and dramatic

202 of RPE-specific markers (cytokeratin, CD68, microphthalmia-inducing transcription factor [MITF]) wer

203 anterior segment dysgenesis (ASD), including microphthalmia, iris hypoplasia, irdiocorneal angle malf

204 Microphthalmia is a relatively common ocular malformatio

205 The etiology of anophthalmia and microphthalmia is diverse, with multiple genetic mutatio

206 Furthermore, these findings show that microphthalmia is downregulated not only by experimental

207 Lenz microphthalmia is inherited in an X-linked recessive pat

208 lite markers distributed around the CNA2 and microphthalmia loci (arCMIC, adCMIC, NNO1, and CHX10) us

209 We report here the mapping of a human microphthalmia locus on chromosome 14q24.3, the cloning

210 D, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness.

211 ch the autosomal dominant form of congenital microphthalmia may arise.

212 an X-linked recessive pattern and comprises microphthalmia, mental retardation, and skeletal and oth

213 To determine a role for microphthalmia (mi) during eye development, the effects

214 Microphthalmia (Mi) is a basic helix-loop-helix-leucine

215 Microphthalmia (Mi) is a bHLHZip transcription factor th

216 The mouse microphthalmia (mi) locus encodes a basic helix-loop-hel

217 arget of the melanocyte transcription factor Microphthalmia (Mi), a factor for which deficiency in hu

218 d protein kinase-mediated phosphorylation of Microphthalmia (Mi), a lineage-restricted transcription

219 ns at loci encoding the transcription factor Microphthalmia (Mi), the cytokine receptor c-Kit, or its

220 In this family, microphthalmia, microcephaly, intellectual disability, a

221 mutations in two families with non-syndromic microphthalmia (MIM 251600), cataracts and severe abnorm

222 ucine zipper transcription factor related to microphthalmia (Mitf), a gene known to be required for d

223 port of rescue of retinal proliferation in a microphthalmia model by deletion of a cell cycle regulat

224 t amount of the proliferation defect in this microphthalmia model system.

225 pment results in congenital defects, such as microphthalmia or anophthalmia, or a change of cell fate

226 days 1-4, including severe cryptophthalmos, microphthalmia or anophthalmia, retinal dysplasia, kerat

227 dline, cleft lip, extensive exencephaly, and microphthalmia or anophthalmia.

228 ed by ocular abnormalities such as coloboma, microphthalmia, or even anophthalmia.

229 These include microphthalmia, perinatal lethality, and epithelial canc

230 Caspase-3-deficient animals display marginal microphthalmia, peripapillary retinal dysplasia, delayed

231 with ocular retardation (the or-J allele), a microphthalmia phenotype, have a null mutation in the re

232 a multicopy YAC transgenic line results in a microphthalmia phenotype.

233 ssess the DNA consensus site for binding the Microphthalmia protein, this transcription factor also c

234 tionally mutant mice, which exhibited severe microphthalmia, reduced pupillary openings, disrupted fi

235 ed the phosphorylation and expression of the microphthalmia-related transcription factor.

236 synthetic pathways: pigmentation defects and microphthalmia result from deficiencies in a GTP synthes

237 hypoplasia, body and facial hypertrichosis, microphthalmia, short stature, and short distal phalange

238 /6 background) display reduced body size and microphthalmia, similar to ATF4-null animals.

239 ans with anophthalmia (absent eye) or severe microphthalmia (small eye) show haploid insufficiency du

240 e and humans causes congenital blindness and microphthalmia (small eyes).

241 Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and

242 The microphthalmia transcription factor (Mitf) activates mel

243 ne contains two potential E-box elements for microphthalmia transcription factor (MITF) and three put

244 Microphthalmia transcription factor (MITF) is a basic he

245 Microphthalmia transcription factor (Mitf) is a melanocy

246 ted HINT1) in regulating the activity of the microphthalmia transcription factor (MITF) is of great i

247 The microphthalmia transcription factor (MITF) is required f

248 Microphthalmia transcription factor (MITF) regulates the

249 These stimuli also provoked microphthalmia transcription factor (MITF) translocation

250 cells and expressed cytokeratin, RPE65, and microphthalmia transcription factor (MITF) when cocultur

251 The microphthalmia transcription factor (MITF), a basic-heli

252 he master melanocyte differentiation factor, microphthalmia transcription factor (MITF), regulates ce

253 of mast cells by inducing the expression of microphthalmia transcription factor (Mitf).

254 rectly or synergistically by Pax3, Sox10 and microphthalmia transcription factor (MITF).

255 tabilization, and increased transcription of microphthalmia transcription factor and its target genes

256 stochemistry for phospho-ERK, cyclin D1, and microphthalmia transcription factor expression in 17 Spi

257 of cyclin D1 expression and lower levels of microphthalmia transcription factor expression suggestin

258 ti signal protein and enhanced expression of microphthalmia transcription factor in the midphase of t

259 metalloproteinase (MMP2/MMP9) expression and microphthalmia transcription factor upregulation.

260 thesis by increasing the expression of MITF (microphthalmia transcription factor) and TYR (tyrosinase

261 Mutations in MITF (microphthalmia transcription factor) cause Waardenburg s

262 (bHLH-Zip) transcription factor called MITF (microphthalmia transcription factor).

263 n and activation of the transcription factor Microphthalmia transcription factor, acting at E-box ele

264 Microphthalmia transcription factor, an MiT transcriptio

265 aused by overexpression of NFATc1, PU.1, and microphthalmia transcription factor, downstream targets

266 d maturation by inhibiting the expression of Microphthalmia transcription factor.

267 E3, homologues of TFEB belonging to the same microphthalmia/transcription factor E (MiT/TFE) family,

268 gree in which cornea plana cosegregated with microphthalmia was investigated by linkage analysis and

269 proposed that OFCD and MAA2-associated Lenz microphthalmia were allelic, and we found different fram

270 PHPV and microphthalmia were found in 100% of Ski-/- fetuses.

271 Two loci associated with this syndrome, MAA (microphthalmia with associated anomalies) and MAA2, are

272 mice, and a characteristic eye phenotype of microphthalmia with cataracts in all mice carrying the t

273 fication causes severe defects, resulting in microphthalmia with coloboma, disturbed lamination, and

274 Transgenic F1 mice exhibit microphthalmia with complete coat color dilution.

275 s of development, this treatment resulted in microphthalmia with concomitant disruption of the develo

276 he zebrafish results in shortened body axis, microphthalmia with disorganized lens, microcephaly, red

277 mutant develops severe retinal coloboma and microphthalmia with full penetrance.

278 Microphthalmia with linear skin defects (MLS) is an X-li

279 Microphthalmia with linear skin defects (MLS) is an X-li

280 Microphthalmia with linear skin defects (MLS) syndrome i

281 Girls with MLS syndrome have microphthalmia with linear skin defects of face and neck

282 Microphthalmia with linear skin defects syndrome (MLS) i

283 Microphthalmia with linear skin defects syndrome (MLS) i

284 osed for Rett syndrome, Aicardi syndrome and microphthalmia with linear skin defects, but in these sp

285 Deletion of connexin (Cx)50 produces microphthalmia with nuclear cataracts.

286 e show that Gja8tm1 (alpha8-/-) mice develop microphthalmia with small lenses and nuclear cataracts,