ライフサイエンスコーパス: developmental defect

1 ac, are linked to a rare autosomal recessive developmental defect.

2 letion of the Mycs leads to an unsustainable developmental defect.

3 thin 24 hours of birth, from a severe kidney developmental defect.

4 hrough temporary TGFbeta inhibition leads to developmental defects.

5 xpression of OsPIP5K1 partially rescues dwt1 developmental defects.

6 and auxin levels manifest the specific root developmental defects.

7 unction contributes to disease pathology and developmental defects.

8 sive disorder characterized by eye and other developmental defects.

9 ular keratinocytes, leading to hair follicle developmental defects.

10 afish where knockouts of Kat6a/kat6a lead to developmental defects.

11 eregulation with tissue-specific cancers and developmental defects.

12 OX2, associated with organogenesis and human developmental defects.

13 al lung diseases, smoking, and congenital or developmental defects.

14 ristics of the patterning outcome and causes developmental defects.

15 and depletion of LSD1 family members causes developmental defects.

16 ignaling mutant bri1-301 rescues many of its developmental defects.

17 an result in genomic instability, cancer and developmental defects.

18 which are the underlying cause of the severe developmental defects.

19 e neural development resulted in no apparent developmental defects.

20 entral nervous system (CNS) leads to various developmental defects.

21 n lines, correlating with various growth and developmental defects.

22 ons, severe genomic instability and dramatic developmental defects.

23 from growing plants without causing serious developmental defects.

24 signaling can result in dwarfism as well as developmental defects.

25 deletion of meningeal Bmp7 also have dentate developmental defects.

26 g bone marrow failure, immunodeficiency, and developmental defects.

27 ryos died in utero because of cardiovascular developmental defects.

28 ciliary proteins are associated with severe developmental defects.

29 ways associated with both metal exposure and developmental defects.

30 craniofacial deformities and cardiovascular developmental defects.

31 e during pregnancy have an increased risk of developmental defects.

32 cases of mental retardation associated with developmental defects.

33 , a protein whose mutation leads to multiple developmental defects.

34 spleen at birth in individuals with no other developmental defects.

35 correct the patterning errors that underlie developmental defects.

36 s in defective neural tube closure and other developmental defects.

37 nhibition of the identified pathway prevents developmental defects.

38 ple pre- and post-beta-selection intrathymic developmental defects.

39 development and abrogated several extrarenal developmental defects.

40 tenin signaling, which may account for these developmental defects.

41 are viable and did not exhibit any apparent developmental defects.

42 anogenesis results in severe tissue-specific developmental defects.

43 or differentiation, and exhibited downstream developmental defects.

44 d found overlapping but distinct patterns of developmental defects.

45 (Tsc2-hGFAP) model of TSC would rescue brain developmental defects.

46 creas, but surprisingly, did not observe any developmental defects.

47 therwise buffered genetic lesions leading to developmental defects.

48 ell wall-derived L-Ara and exhibiting severe developmental defects.

49 for more detailed analysis of the underlying developmental defects.

50 enic plants were fertile and without obvious developmental defects.

51 terminally truncated NKAP demonstrate severe developmental defects.

52 can ultimately cause growth retardation and developmental defects.

53 oter contacts, aberrant gene expression, and developmental defects.

54 ish revealed compromised ciliary beating and developmental defects.

55 w birth weight, fetal growth retardation and developmental defects.

56 cobalamin (vitamin B12) metabolism and other developmental defects.

57 mbers are viable and fertile with no obvious developmental defects.

58 prolong anaphase and this may contribute to developmental defects.

59 s leads to failure of myofibril assembly and developmental defects.

60 properties of RCS lymphoid cells but also to developmental defects.

61 Barre syndrome, microcephaly and other fetal developmental defects(1,2).

62 DNA-repair pathway (Fancd2 knockout) display developmental defects, a predisposition to leukaemia, an

63 Developmental defects affecting the heart and aortic arc

64 lso demonstrate that BALOs recapitulate lung developmental defects after knockdown of a critical regu

65 th a T-cell, B-cell, and natural killer cell developmental defect and hypogammaglobulinemia that is a

66 ed acetylation machinery are associated with developmental defects and a familial form of spastic par

67 UTase inhibition in Zebrafish embryos causes developmental defects and aberrant Hox expression.

68 apeutic approaches to correct early lymphoid developmental defects and aberrant lymphocyte function.

69 reminiscent of atprmt3, showing pleiotropic developmental defects and aberrant pre-rRNA processing.

70 WSS1A defective lines exhibit developmental defects and are hypersensitive to camptoth

71 i anemia leads to severe symptoms, including developmental defects and breakdown of the hematopoietic

72 yltransferase and/or demethylases results in developmental defects and cancer progression.

73 a (FA) patients exhibit bone marrow failure, developmental defects and cancer.

74 utation and dysregulation of PcG genes cause developmental defects and cancer.

75 re important for preventing neurological and developmental defects and cancer.

76 ow misregulation of this complex may lead to developmental defects and disease.

77 deficiency in Prg and Larg leads to complex developmental defects and early embryonic lethality.

78 t2 double-knockout mice are characterized by developmental defects and epigenetic instability, sugges

79 Munc18-1 heterozygous mutations cause developmental defects and epileptic phenotypes, includin

80 L proteins such as lamin and emerin leads to developmental defects and human diseases.

81 ouble-strand breaks has been associated with developmental defects and human diseases.

82 of both A20 and CYLD did not exacerbate the developmental defects and hyperresponsive activity of A2

83 during a neonatal window prevents cerebellar developmental defects and improves long-term motor perfo

84 ificantly reduced its activity, resulting in developmental defects and increased pathogen susceptibil

85 Aneuploidy causes severe developmental defects and is a near universal feature of

86 e min7/ben1 mutant phenocopied the mild root developmental defects and latrunculin B hypersensitivity

87 al cues were found to contribute to lymphoid developmental defects and myeloid hyperplasia in Pofut1-

88 in O-GlcNAcylation have been associated with developmental defects and neurodegeneration.

89 y phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmen

90 fish and chicken embryo models to assess for developmental defects and potential teratogenic effects.

91 ond-Blackfan anemia (DBA) is associated with developmental defects and profound anemia.

92 sis ATRX mutant alleles are viable, but show developmental defects and reduced fertility.

93 t hypomorphic mutants are viable but display developmental defects and reduced plant fertility.

94 -) embryos into wild-type mothers suppresses developmental defects and rescues embryonic lethality.

95 n1 function in mice results in severe thymic developmental defects and the hairless (nude) phenotype.

96 error-prone process that opens up the fly to developmental defects and the potential of tumor formati

97 or inactivation of BMP signaling can lead to developmental defects and various human disorders.

98 ted with several diseases, including cancer, developmental defects, and neurodegeneration.

99 ressive decline in hematopoietic stem cells, developmental defects, and predisposition to cancer.

100 changes provide explanation for the observed developmental defects, and suggest that Pttg1 is a tumor

101 embryo caused aberrant nuclear divisions and developmental defects, and these were enhanced by decrea

102 The clinical features of cytopenia, developmental defects, and tumor predisposition are simi

103 hese sleep phenotypes were not the result of developmental defects, and were correlated with changes

104 esults in Sox2 downregulation and causes the developmental defects anophthalmia or microphthalmia, si

105 However, the underlying mechanisms for these developmental defects are not well understood.

106 Strikingly, these NF1-associated developmental defects are rescued by transient treatment

107 Lack of prominent developmental defects arising from loss of many individu

108 s have the same homeotic gene expression and developmental defects as mutations in the enzyme that tr

109 Plants lacking NAA50 display severe developmental defects as well as induced stress response

110 induction appears to be responsible for the developmental defects, as Rpl22 deficiency causes increa

111 wn of got2a in zebrafish resulted in a brain developmental defect associated with seizure-like electr

112 ization of AtMBP-1 in vivo and abolished the developmental defects associated with AtMBP-1 over-expre

113 deficient in Six1 recapitulated most of the developmental defects associated with BOS3, mice lacking

114 However, loss of p53 did not rescue the developmental defects associated with loss of zebrafish

115 NMNAT2 in primary cultures, can also correct developmental defects associated with NMNAT2 deficiency.

116 us shha and shha target gene mRNA levels and developmental defects associated with null shha mutation

117 w mouse model to characterize the underlying developmental defects associated with pancreatic agenesi

118 Trp53 and provide a proof of principle that developmental defects associated with reduced dosage of

119 also discuss examples of human diseases and developmental defects associated with the failure of RNA

120 Embryos and placentas were assessed for developmental defects at embryonic day 10.5 (E10.5).

121 cell-targeted deletion of GPS2, resulting in developmental defects at multiple stages of B cell diffe

122 d edm2 mutant plants display a wide range of developmental defects, but little is known about which d

123 l fate, deregulation of which contributes to developmental defects, cancer, and aging.

124 Damage to the ENS or developmental defects cause vomiting, abdominal pain, co

125 The majority of developmental defects caused by BCKDH deficiency may thu

126 l overexpression is sufficient to rescue the developmental defects caused by blocking the Hh and Notc

127 me this, we performed an enhancer screen for developmental defects caused by compromising both global

128 aturation, KIS is able to suppress the spine developmental defects caused by CPEB3 overexpression.

129 previously been described in Drosophila, but developmental defects caused by insertion of P-elements

130 of dysmorphology and severity of ciliopathy developmental defects caused by mks3 knockdown.

131 it was recognized that human ribosomopathies-developmental defects caused by mutations in ribosome bi

132 eported role of increased ARF8 expression in developmental defects caused by P1/HC-Pro.

133 deletion of mcrA did not fully suppress the developmental defects caused by the lack of the regulato

134 We analyzed developmental defects caused by tissue-specific inactiva

135 BIR1 overexpression leads to severe developmental defects, cell death and premature death, w

136 was, with the exception of a residual T cell developmental defect, completely rescued in irradiated w

137 ino phenotype, and NSC668394 caused a unique developmental defect consistent with reduced cell motili

138 e range of localization phenotypes, and that developmental defects due to changes in PleC localizatio

139 le exocytosis components in the gland caused developmental defects due to deficiency of ecdysone.

140 thaliana) cause embryo stage arrest or major developmental defects due to perturbation of the dynamic

141 onclude that loss of Lsp function results in developmental defects due to the loss of all lipoprotein

142 r1 D170E/M473L-Myc transgene exhibit diverse developmental defects during plant growth and display an

143 o 50 mug mL(-1) whereas PS-NH2 caused severe developmental defects (EC50 3.85 mug mL(-1) 24 hpf and E

144 To separate developmental defects from alterations in the physiology

145 ponse pathway result in genomic instability, developmental defects, hematopoietic failure, cancer pre

146 tumors and in individuals with congenital or developmental defects, highlighting the impact of chromo

147 nactivation of TET enzymes causes multistage developmental defects, impaired cell reprogramming, and

148 pomorphic dsp1-1 mutation causes pleiotropic developmental defects, impairs the 3' end processing of

149 tic biology and are consistent with an early developmental defect in beta-III(-)/(-) mice, with abnor

150 irst miRNA mutations to be associated with a developmental defect in humans.

151 that the aberrant spine phenotype could be a developmental defect in LD.

152 cantly, Bnip-h knockdown in zebrafish causes developmental defect in motor neurons through impaired c

153 he genetic lack of oxytocin does not cause a developmental defect in muscle but instead leads to prem

154 ants are genetically undefined and harbour a developmental defect in sclerotial production.

155 an inhibit the function of miR-430 and cause developmental defect in the brain, notochord, heart, and

156 dness in children worldwide and is caused by developmental defects in 2 aqueous humor outflow structu

157 f selective BCR-ABL inhibitors in humans and developmental defects in Abl1 knockout mice, suggest tha

158 rturbations of the C-terminal region lead to developmental defects in both humans and zebrafish.

159 seizure sensitivity despite previously known developmental defects in brain morphology.

160 ipotent but were depleted of 5hmC and caused developmental defects in chimeric embryos.

161 OR OF DRY2 DEFECTS1 (SUD1) gene recover most developmental defects in dry2 through changes in HMGR ac

162 hibit a spectrum of features that range from developmental defects in eye and/or pituitary developmen

163 d TSB using the CRISPR/Cas9 system result in developmental defects in flies.

164 1 associates with epilepsy, cleft palate and developmental defects in heterozygous female patients.

165 s lifelong infections in most of us, causing developmental defects in human embryos and life-threaten

166 , but not of only one of them, rescued tooth developmental defects in K14Cre;pNog mice, in which Wnt

167 gene causes alveolar capillary dysplasia and developmental defects in lung, intestinal, and gall blad

168 Aneuploidy leads to severe developmental defects in mammals and is also a hallmark

169 though deletions of CHD2 have been linked to developmental defects in mice and epileptic disorders in

170 1 C terminus, produces a limited spectrum of developmental defects in mice as well as deregulation of

171 ed genome editing, we generated and analyzed developmental defects in mice carrying additional Golgb1

172 mic instability (GIN), leading to cancer and developmental defects in mice.

173 Npc1(nmf164) mice, suggesting that profound developmental defects in microglia and synaptic connecti

174 heir failure to develop was secondary to the developmental defects in motoneurons.

175 ranscriptional regulation, leading to severe developmental defects in multicellular organisms.

176 Knockdown in zebrafish resulted in developmental defects in multiple organs, which suggeste

177 This mis-expression underlies epidermal developmental defects in mutants of the conserved tumor

178 synthesis often results in severe growth and developmental defects in plants, which imposes practical

179 iled to erase imprints in PGCs and displayed developmental defects in progeny.

180 to B3GLCT inactivation and suggest that the developmental defects in PTRPLS result from disruption o

181 cient mice, indicating that there are B cell-developmental defects in the absence of IRF8.

182 genous auxin was sufficient to rescue the LR developmental defects in the ark2-1/pub9-1 lines, indica

183 lly, Zika virus (ZIKV) infection can lead to developmental defects in the cortex of the fetal brain.

184 rmalities, alterations in motor behavior, or developmental defects in the dopaminergic system.

185 dial defects but do not sufficiently explain developmental defects in the endocardial-derived cardiac

186 Histological analysis also showed developmental defects in the formation of the fore-, mid

187 fy which cell type is driving the glomerular developmental defects in the global EBF1 knockout mice,

188 signaling by the K14Ptch(FVB) transgene, as developmental defects in the highest expressing transgen

189 rus (ZIKV) during pregnancy may cause severe developmental defects in the human brain via unknown mec

190 ic health due to its ability to cause severe developmental defects in the human brain, such as microc

191 he dendritic spine abnormalities are primary developmental defects in the LD model and these defects

192 loss of Wnt2 and Wnt7b leads to more severe developmental defects in the lung than loss of Wnt2 or W

193 e both vacuole trafficking and auxin-related developmental defects in the rpl4d mutant.

194 FA deficiency is largely responsible for the developmental defects in the worm and conceivably might

195 indings are confounded by the complex T cell developmental defects in these mice.

196 The key piece of evidence was that the developmental defects in transgenic Arabidopsis (Arabido

197 This contributes to subsequent developmental defects in treated embryos.

198 and serine synergistically rescued embryonic developmental defects in zebrafish got2a morphants.

199 Glucose-specific developmental defects included reduced (> 90%) conidiati

200 al region of hnRNPR and who have multisystem developmental defects including abnormalities of the bra

201 Developmental defects including delayed bolting and redu

202 n cortical progenitor cells and neurons have developmental defects, including displaced progenitor ce

203 ncreases in genomic instability and specific developmental defects, including dwarfism, craniofacial

204 opr7 opr8 displayed strong developmental defects, including formation of a feminize

205 atally, and E18.5 embryos exhibited striking developmental defects, including hypoplasia of the mandi

206 ents in their pathways often leads to severe developmental defects, including lethality and sterility

207 n from E10.5 onwards results in a variety of developmental defects, including loss of hair follicles

208 lysis displayed a spectrum of cardiovascular developmental defects, including persistent truncus arte

209 re associated with a range of nervous system developmental defects, including perturbation of neurona

210 es and find that a majority induced specific developmental defects, including phenocopies of mutants

211 Mutations of SMC5/6 components cause developmental defects, including primary microcephaly.

212 resulted in severe kidney and urinary tract developmental defects, including renal/ureteral duplicat

213 sion of VUP1 caused dramatic and pleiotropic developmental defects, including severe dwarfism, dark g

214 eous families diagnosed with multiple ocular developmental defects, including severe vitreoretinal dy

215 experiments in zebrafish resulted in general developmental defects, including shortening of the intes

216 lterations of cilia function lead to various developmental defects, including supernumerary or missin

217 on pathway result in infantile-onset, severe developmental defects involving skeleton muscle, brain a

218 th 6q24 abnormalities had specific features: developmental defects involving the heart, kidneys, or u

219 e levels of PLZF, but deficient for YY1, had developmental defects, lost their characteristic "prefor

220 a premature aging disorder characterized by developmental defects, multisystem progressive degenerat

221 Phf8 deficient mice neither display obvious developmental defects nor signs of cognitive impairment.

222 osomal dominant disorder associating various developmental defects, notably cardiopathies, dysmorphis

223 coloboma, recapitulating the most consistent developmental defect observed in affected individuals.

224 27me3-mediated imprinting contributes to the developmental defects observed in cloned embryos.

225 es displayed in Ndst1ECKO mice resembled the developmental defects observed in slit homolog 3 (Slit3)

226 not primarily responsible for the thymocyte developmental defects observed in the Smarca5 mutants.

227 by providing an underlying mechanism for the developmental defects observed in these cases.

228 endent splicing programs between phyla, most developmental defects observed in vertebrate mutants are

229 t of pdx1.1 that is responsible for the root developmental defects observed therein.

230 The developmental defect of CH in cDKO first became evident

231 Molecular studies demonstrated that the developmental defect of DCs from common myeloid progenit

232 Hypospadias, a developmental defect of the penis, is one of the most co

233 in vivo function, we have characterized the developmental defects of a null mutation in Drosophila A

234 c suppressor of atprmt3-2, which rescues the developmental defects of atprmt3-2 while produces a puta

235 Birth cohort studies of developmental defects of enamel (DDE) and early childhoo

236 R dysfunction ameliorates the functional and developmental defects of flies lacking the single Mfn mi

237 ion of SHH signaling, resulting in recessive developmental defects of the CNS and limbs which share f

238 x alters neuronal polarity and causes strong developmental defects of the nervous system leading to s

239 Constitutive expression of HSFA2 rescued the developmental defects of the QK mutant and promoted call

240 the noncoding del10 mutation in Hgf leads to developmental defects of the SV and consequently dysfunc

241 al hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-

242 Finally, we established that the developmental defects of TRAF6- and integrin alpha3-null

243 oncurrent loss of p53 completely rescued the developmental defects of YY1-deficient thymocytes.

244 n early ablation or overexpression can cause developmental defects or embryonic lethality.

245 Excessive HDAC1 activity, due to developmental defects or other factors, is associated wi

246 s of TSPO in the CNS did not result in overt developmental defects or phenotypes.

247 airment and loss of dental enamel, caused by developmental defects or tooth decay (caries), affect he

248 can develop hepatobiliary diseases caused by developmental defects or toxin- or ethanol-induced injur

249 ng biallelic truncating variants in GLI1 and developmental defects overlapping with Ellis-van Creveld

250 polQ mutant plants show growth and developmental defects, perhaps explaining previous unsuc

251 to study the localization of miR-430 and any developmental defects possibly caused by the molecular b

252 Our results suggest that despite the severe developmental defects, protein import into Tic56-deficie

253 kdown display reduced heart rate and cardiac developmental defects, recapitulating the observed patho

254 rescued by decreased Pc expression, display developmental defects resembling hyperactivation of Pc.

255 genital diaphragmatic hernia (CDH) is a rare developmental defect resulting in variable degrees of lu

256 mutations are common in cancer, or result in developmental defects, revealing the importance of RNA s

257 atures of neuropsychological dysfunction and developmental defects should be tested for in adults wit

258 consequences of p63DBD mutations that cause developmental defects show that, although some mutations

259 ed by endoplasmic reticulum (ER) stress, and developmental defects similar to ATF4 mutants.

260 nt viral suppressors of RNA silencing induce developmental defects similar to those caused by mutatio

261 ctivation of Crkl in the mouse model induced developmental defects similar to those observed in patie

262 iguingly, although shr had sugar content and developmental defects similar to those of scr, it was mu

263 onucleases MUS81 and SEND1 results in severe developmental defects, spontaneous cell death, and genom

264 ined immunodeficiency associated with severe developmental defects-subsequently known as Roifman-Chit

265 mutant mice displayed multiple NS-associated developmental defects such as growth delay, craniofacial

266 Developmental defects such as impaired neuronal migratio

267 naive T cell deficiency due to an intrinsic developmental defect that begins to manifest in the thym

268 educes cell proliferation, resulting in lens developmental defect that finally progresses into aphaki

269 Thus, Ts21 iPSCs and neurons display unique developmental defects that are consistent with cognitive

270 ated with neuropsychological dysfunction and developmental defects that are specific to the underlyin

271 treptomyces coelicolor results in growth and developmental defects that cannot be restored by reintro

272 rest in elo3 mutants, but not the later leaf developmental defects that have been linked to the loss

273 thin the developing brain and the subsequent developmental defects that occurred after the loss of th

274 CK2 inactivation results in developmental defects that phenocopy loss of miRISC cofa

275 ial field harbors a plethora of diseases and developmental defects that require genetic models that c

276 n of this phosphoserine interaction produces developmental defects that resemble full loss-of-functio

277 still largely unknown as a result of severe developmental defects that result from whole-body knocko

278 icient male mice undergo a complex series of developmental defects that result in the inability to ma

279 ngly, substitutions in the TTSS motif caused developmental defects that varied between biological rep

280 nd mutants in zebrafish embryos caused heart developmental defects that varied in severity.

281 IKV) causes neurological, immunological, and developmental defects through incompletely understood me

282 lving excessive stress-granule formation, or developmental defects, through mechanisms that are not k

283 cient mice die perinatally and exhibit gross developmental defects throughout the second half of deve

284 gation - essential to prevent miscarriage or developmental defects - thus occur through atypical mech

285 ensue when such mechanisms fail, from fetal developmental defects to establishment of chronic infect

286 of Arabidopsis LEC1 promoter caused several developmental defects to leaf somatic embryos, including

287 ort has attributed viral suppressor-mediated developmental defects to up-regulation of AUXIN RESPONSE

288 was demonstrated by the strong and specific developmental defects triggered by STTMs targeting three

289 double mutant plants display slow growth and developmental defects under non-damaging conditions.

290 ardiomyocyte differentiation, severe cardiac developmental defects, upregulation of Tbx5 target genes

291 he role of ARF8 in viral suppressor-mediated developmental defects, using two independent arf8 mutati

292 s and gain insight into the origin of PTRPLS developmental defects, we developed and characterized tw

293 ts are not secondary responses to anosmia or developmental defects, we generated a conditional AC3 fl

294 efine molecular mechanisms for these diverse developmental defects, we studied transcriptional and ep

295 Among chimeric partner "losers," severe developmental defects were observed in asexually propaga

296 Msx1 heterozygosity enhanced maxillary molar developmental defects whereas Osr2 heterozygosity partia

297 Fkbp1a did not give rise to the ventricular developmental defect, whereas endothelial cell-restricte

298 Mice with Lin28b deletion exhibit no developmental defects, whereas we have previously report

299 Larvae exposed to Nano-PS did not exhibit developmental defects, while larvae exposed to ERSE (2-5

300 and its paralog Esrp2 results in widespread developmental defects with broad implications to human d