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 ish revealed compromised ciliary beating and developmental defects.

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

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

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

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

8 e neural development resulted in no apparent developmental defects.

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

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

11 ons, severe genomic instability and dramatic developmental defects.

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

13 prolong anaphase and this may contribute to developmental defects.

14 from growing plants without causing serious developmental defects.

15 deletion of meningeal Bmp7 also have dentate developmental defects.

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

17 ryos died in utero because of cardiovascular developmental defects.

18 ciliary proteins are associated with severe developmental defects.

19 ways associated with both metal exposure and developmental defects.

20 craniofacial deformities and cardiovascular developmental defects.

21 cases of mental retardation associated with developmental defects.

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

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

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

25 nhibition of the identified pathway prevents developmental defects.

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

27 development and abrogated several extrarenal developmental defects.

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

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

30 anogenesis results in severe tissue-specific developmental defects.

31 or differentiation, and exhibited downstream developmental defects.

32 d found overlapping but distinct patterns of developmental defects.

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

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

35 therwise buffered genetic lesions leading to developmental defects.

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

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

38 for more detailed analysis of the underlying developmental defects.

39 cilia have been associated with disease and developmental defects.

40 ved regions of two zebrafish lincRNAs caused developmental defects.

41 results in a reduced growth rate as well as developmental defects.

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

43 In vivo, depletion of Nibbler by RNAi causes developmental defects.

44 Kbeta and Ras activities also result in iNKT developmental defects.

45 vessels, mediates diabetes-induced vascular developmental defects.

46 apoptosis pathway show only relatively minor developmental defects.

47 abnormal patterning of the embryo and severe developmental defects.

48 ugs that alter this activity could result in developmental defects.

49 egans peroxidasin pxn-1 does not cause overt developmental defects.

50 ries of Fpn1 mutations that result in graded developmental defects.

51 hrough temporary TGFbeta inhibition leads to developmental defects.

52 and auxin levels manifest the specific root developmental defects.

53 unction contributes to disease pathology and developmental defects.

54 sive disorder characterized by eye and other developmental defects.

55 ular keratinocytes, leading to hair follicle developmental defects.

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

57 eregulation with tissue-specific cancers and developmental defects.

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

59 ristics of the patterning outcome and causes developmental defects.

60 and depletion of LSD1 family members causes developmental defects.

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

62 ha and Dicer in the embryo led to consistent developmental defects, a failure to gastrulate, and embr

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

64 The pex5-10 (PEX5(454)) plants still had developmental defects, although restoring PTS2 import re

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

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

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

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

69 and abnormal Hh signaling is associated with developmental defects and cancer.

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

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

72 s strongly reduced in o5(-) mutants, causing developmental defects and changes in starch production s

73 , and their incorrect deployment can lead to developmental defects and disease states.

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

75 us deletion of Hic1 in mice results in major developmental defects and embryonic lethality.

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

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

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

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

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

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

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

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

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

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

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

87 ant mice are not viable and have both neural developmental defects and polydactyly, phenotypes typica

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

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

90 ants, the ukl1 ukl2 double mutant has severe developmental defects and reduced biomass accumulation,

91 sh Dhx34 and Nbas proteins results in severe developmental defects and reduced embryonic viability.

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 1 gene resulted in the rapid onset of severe developmental defects and sterility.

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

97 To bypass these early developmental defects and to provide a genetic tool for

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

99 processes is known to result in significant developmental defects and/or predisposition to cancer.

100 ly modest V(D)J recombination and lymphocyte developmental defects, and H2AX deficiency does not have

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

121 ers of chromosomes, has been associated with developmental defects, cancer and adaptive evolution in

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

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

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

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

126 nd npy1, mimic all of the well-characterized developmental defects caused by combining yuc mutants wi

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 we screened for mutations that suppress the developmental defects caused by overexpression of mir-84

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

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

135 hanced IBA resistance, diverse auxin-related developmental defects, decreased auxin-responsive report

136 ient mice that were viable and without major developmental defects demonstrated decreased ceramide an

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

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

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

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

141 ant exhibits delayed larval growth and major developmental defects during metamorphosis, including im

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 e first evidence that RasGRP3 contributes to developmental defects found in embryos that develop in a

145 To separate developmental defects from alterations in the physiology

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

147 tion of one copy of p53 failed to rescue the developmental defects; however, it synergistically induc

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

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

150 experiments with wild type mice, excluding a developmental defect in Acta2 null pups.

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

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

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

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

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

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

157 gely unknown, but are thought to be due to a developmental defect in the migration of gonadotropin-re

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

159 Here we identified early-stage developmental defects in a severe model of SMA.

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

161 ly impairs RdDM, but also causes pleiotropic developmental defects in Arabidopsis.

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

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

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

165 There were no evident developmental defects in either conditional knockout str

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

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

168 1 associates with epilepsy, cleft palate and developmental defects in heterozygous female patients.

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

170 These developmental defects in imp-beta11 mutants could be ove

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

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

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

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

175 1 C terminus, produces a limited spectrum of developmental defects in mice as well as deregulation of

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

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

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

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

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

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

182 -miR-451 restored miRNA function and rescued developmental defects in MZdicer mutants, indicating tha

183 ponses to antigen has been obscured by other developmental defects in NIK-deficient mice.

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

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

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

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

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

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

193 by Emx2 and that polarity is compromised by developmental defects in the sensory precursor populatio

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 bryonically lethal in mice and causes severe developmental defects in zebrafish.

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

200 SMT2 in the cvp1 mutant results in moderate developmental defects, including aberrant cotyledon vein

201 laminin alpha5 gene results in a variety of developmental defects, including defects in kidney struc

202 fecting both isoforms, sr45-1, shows several developmental defects, including defects in petal develo

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

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

205 FUT1-deficient mice exhibit developmental defects, including fewer and smaller glome

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

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

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

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

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

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

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

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

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

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

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

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

218 Defects in PCP are associated with developmental defects involving directional cell growth,

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

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

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

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

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

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

225 The developmental defects observed in these diseases indicat

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

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

228 The developmental defect of CH in cDKO first became evident

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

230 Conversely, the developmental defect of Rip1(-/-) lymphocytes was partia

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

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

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

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

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

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

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

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

239 MZ B cells are absent due to either genetic developmental defects or following transient migration o

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

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

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

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

244 hogenesis of several diseases and in several developmental defects, particularly those in neural cres

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

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

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

248 The most common defect is a developmental defect referred to as hypoplastic left hea

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

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

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

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

253 t dysregulation of Wnt signaling can lead to developmental defects similar to human cortical malforma

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

255 nt morpholinos resulted in embryos which had developmental defects similar to those observed in human

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

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

258 e embryos lacking both Hic1 alleles manifest developmental defects spatially associated with the mise

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

260 The retinal developmental defect still occurs in knockout mice that

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

262 ations in 'ciliome' genes have largely shown developmental defects such as abnormal body axis and bra

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

264 Developmental defects such as impaired neuronal migratio

265 ality was attributed to diverse cellular and developmental defects, such as organ formation and patte

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

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

268 nd Puma triple-knockout mice showed the same developmental defects that are associated with deficienc

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 expression in zebrafish results in multiple developmental defects that have been previously associat

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

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

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

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

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

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

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

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

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

285 syndromes, all of which are characterized by developmental defects, tumor propensity, and genetic ins

286 nd responsiveness, along with the associated developmental defects, uncover previously unappreciated

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

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

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

290 To bypass this developmental defect, we developed a conditional knock-i

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

292 iabetic mothers showed that diabetes-induced developmental defects were dramatically attenuated in em

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

294 riately stabilized during S phase and causes developmental defects when ectopically expressed.

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

296 sive PKD, caused by mutations in PKHD1, is a developmental defect, whereas dominant PKD, caused by mu

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

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

299 Loss of P1-driven expression causes developmental defects with cleidocranial dysplasia-like

300 n which missense mutations in TGFBR1 lead to developmental defects with vascular involvement but no r