ライフサイエンスコーパス: microcephaly

1 simultaneous increase in reports of neonatal microcephaly.

2 d mutations affecting either can cause human microcephaly.

3 ), which includes cortical malformations and microcephaly.

4 ant role in the pathogenesis of ZIKV-related microcephaly.

5 ncluding intrauterine growth restriction and microcephaly.

6 e larvicide pyriproxyfen was associated with microcephaly.

7 nal death, neurodevelopmental disruption and microcephaly.

8 eat because of its unexpected causal link to microcephaly.

9 med that Zika virus (ZIKV) causes congenital microcephaly.

10 ated with an increased incidence of neonatal microcephaly.

11 standing of mechanisms attributed to primary microcephaly.

12 reased neuronal cell-layer volume resembling microcephaly.

13 elae ranging from Guillain Barre syndrome to microcephaly.

14 % of newborns would be categorized as having microcephaly.

15 and has been causally associated with fetal microcephaly.

16 ing multiple embryonic phenotypes, including microcephaly.

17 d with increased reports of babies born with microcephaly.

18 icates a strong causal link between Zika and microcephaly.

19 e of cytokinesis in the pathology of primary microcephaly.

20 iate progenitors and neurons, and results in microcephaly.

21 ations underlie brain size disorders such as microcephaly.

22 nge of mild to severe pathologies, including microcephaly.

23 encoding subunits of these complexes, cause microcephaly.

24 g findings or both, including 4 infants with microcephaly.

25 e linked to a variety of diseases, including microcephaly.

26 n implicated in the pathogenicity of primary microcephaly.

27 ds to postnatal growth restriction including microcephaly.

28 reduction in organoid volume reminiscent of microcephaly.

29 nd prevent ZIKV-associated outcomes, such as microcephaly.

30 including lissencephaly, polymicrogyria and microcephaly.

31 tantial increases in fetal abnormalities and microcephaly.

32 hypomyelinating leukodystrophy type 10 with microcephaly.

33 rowth restriction, spontaneous abortion, and microcephaly.

34 osis induction in neurons and progenitors to microcephaly.

35 followed by seizures, dystonia and acquired microcephaly.

36 ficiency of DYRK1A is associated with severe microcephaly.

37 ring pregnancy is associated with congenital microcephaly.

38 derate to severe intellectual disability and microcephaly.

39 ogenitor cells (NPCs) and leads to embryonic microcephaly.

40 cause or contribute to primary or secondary microcephaly.

41 cause severe fetal abnormalities, including microcephaly.

42 Cep152 mutations lead to the development of microcephaly.

43 ith an apparent increased risk of congenital microcephaly.

44 alth concern because of its ability to cause microcephaly.

45 ing supporting a link between Zika virus and microcephaly.

46 ge genome stability and parallels with human microcephaly.

47 ypes of obesity/underweight and macrocephaly/microcephaly.

48 ain have been employed to model ZIKV-induced microcephaly.

49 individuals with autosomal recessive primary microcephaly.

50 ttention to links between Zika infection and microcephaly.

51 f ZIKV-positive pregnant women with neonatal microcephaly.

52 gly, Kif14 knockout mice also showed primary microcephaly.

53 for interpreting observed trends in reported microcephaly.

54 opmental defects in the human brain, such as microcephaly.

55 of brain proliferating cells and concomitant microcephaly.

56 ead of ZIKV within the Americas has unveiled microcephaly (1) and Guillain-Barre syndrome(2,3) as ZIK

57 Infants with microcephaly (18/442) represent 4% of completed pregnanc

58 ity (10/10), speech delay (10/10), postnatal microcephaly (7/9), and dysmorphic features (9/10).

59 gical impairments were identified, including microcephaly, a reduction in cerebral volume, ventriculo

60 features include global developmental delay, microcephaly, absent speech, hypotonia, growth retardati

61 tations in WD repeat domain 62 (WDR62) cause microcephaly and a wide spectrum of severe brain malform

62 in mice causes neonatal death accompanied by microcephaly and apoptosis in specific neurons, further

63 haly, prevention of all infectious causes of microcephaly and appropriately managing its consequences

64 IDD, all affected individuals show postnatal microcephaly and approximately 80% of those followed ove

65 cephaly and no reported neuroimaging, 14 had microcephaly and brain abnormalities, and 4 had brain ab

66 n brain development abnormalities (including microcephaly and brain calcifications), retinal manifest

67 fold increase in reported incidence of fetal microcephaly and brain malformations.

68 sted blood from 42 mothers and neonates with microcephaly and collected cerebrospinal fluid (CSF) spe

69 , one fatal adult case, and one newborn with microcephaly and congenital malformations.

70 INTERPRETATION: The association between microcephaly and congenital Zika virus infection was con

71 eport suggested a strong association between microcephaly and congenital Zika virus infection.

72 hese mice had mesial-temporal lobe epilepsy, microcephaly and corpus callosum deficiency, and by post

73 eration, providing a potential mechanism for microcephaly and dwarfism phenotypes.

74 y when Zika virus might increase the risk of microcephaly and estimate the associated risk.

75 ika virus in Brazil and its association with microcephaly and Guillain-Barre syndrome led to accelera

76 the Americas and its likely association with microcephaly and Guillain-Barre syndrome make Zika an ur

77 id spread of Zika virus (ZIKV), which causes microcephaly and Guillain-Barre syndrome, signals an urg

78 mericas since 2015 accompanied by congenital microcephaly and Guillain-Barre syndrome.

79 y, causing serious human diseases, including microcephaly and Guillain-Barre syndrome.

80 Zika virus (ZIKV) infection causes microcephaly and has been linked to other brain abnormal

81 on defects that parallel the severity of the microcephaly and increased ectopic basal progenitors, su

82 individuals with a syndrome of growth delay, microcephaly and intellectual disability.

83 al of fetal transmission with risk of latent microcephaly and malformations.

84 Microcephaly and medulloblastoma may both result from mu

85 riants in CIT as the genetic basis of severe microcephaly and neonatal death.

86 S) is an inherited disorder characterized by microcephaly and nephrosis resulting from mutations in t

87 Of the 26 affected fetuses or infants, 4 had microcephaly and no reported neuroimaging, 14 had microc

88 capitulate the patients' cerebellar defects, microcephaly and oedema.

89 The Zika virus (ZIKV) might cause microcephaly and ophthalmoscopic findings in infants of

90 ) infection during human pregnancy and fetal microcephaly and other anomalies suggests that ZIKV may

91 ber 2016) and the most cases associated with microcephaly and other birth defects (2,366 confirmed by

92 Defects in these mechanisms can cause microcephaly and other brain malformations, and understa

93 isorder Guillain-Barre syndrome (GBS) and of microcephaly and other congenital brain abnormalities ba

94 KV) in the Americas has been associated with microcephaly and other congenital malformations in infan

95 ociated with adverse fetal outcomes, such as microcephaly and other congenital malformations.

96 serious sequelae in fetuses, inducing fetal microcephaly and other neurodevelopment defects.

97 e Zika virus (ZIKV) outbreak and its link to microcephaly and other neurological conditions, we perfo

98 a serious threat to pregnant women, causing microcephaly and other neuropathies in developing fetuse

99 These findings suggest mechanisms for microcephaly and other pathologic features of infants wi

100 inked to congenital malformations, including microcephaly and other severe neurological diseases, suc

101 s DENV infection on the risk and severity of microcephaly and other ZIKV complications.

102 on of fetal tissue and brain tissue, causing microcephaly and potentially severe debilitation of the

103 which the cardinal features include primary microcephaly and profound global developmental delay.

104 recapitulated the human phenotype of primary microcephaly and resulted in early lethality.

105 rauterine Zika virus infection is a cause of microcephaly and serious brain anomalies, but the full s

106 f global concern due to its association with microcephaly and serious neurological disorders.

107 ive cases, including two newborn babies with microcephaly and severe arthrogryposis who died shortly

108 on during pregnancy is a cause of congenital microcephaly and severe fetal brain defects, and it has

109 ent presenting with a severe form of primary microcephaly and short stature, we identified compound h

110 ing features, including facial dysmorphisms, microcephaly and short stature.

111 ight potential issues with classification of microcephaly and show how some infants affected by conge

112 ds ratio was 73.1 (95% CI 13.0-infinity) for microcephaly and Zika virus infection after adjustments.

113 study investigating the association between microcephaly and Zika virus infection during pregnancy.

114 ression to determine the association between microcephaly and Zika virus infection.

115 phthalmoscopic findings in infants born with microcephaly and ZIKV intrauterine infection.

116 irus is only one of the infectious causes of microcephaly and, although the contexts in which they oc

117 of congenital brain abnormalities including microcephaly, and (b) the most likely explanation of ava

118 (41.7%) with eye abnormalities did not have microcephaly, and 8 (33.3%) did not have any central ner

119 f major congenital infections that can cause microcephaly, and describe the epidemiology, transmissio

120 inked to Guillain-Barre syndrome, congenital microcephaly, and devastating ophthalmologic and neurolo

121 s (profound developmental delay, progressive microcephaly, and failure to thrive).

122 extreme sensitivity for ionizing radiation, microcephaly, and growth retardation comparable to mutat

123 anisms in the development of ZIKV-associated microcephaly, and may provide insights into the design a

124 y, severe intellectual disability, postnatal microcephaly, and movement disorders.

125 elated with central nervous system findings, microcephaly, and the timing of maternal infection.

126 the fetus along with fetal death, congenital microcephaly, and/or Central Nervous System (CNS) malfor

127 Although the microcephaly- and primordial dwarfism-linked centrosomal

128 of 9 to 16 cases (median, 12) of congenital microcephaly are expected in Puerto Rico per year.

129 cerning links to Guillain-Barre syndrome and microcephaly are incompletely understood.

130 cently proposed mechanistic explanations for microcephaly are supported by molecular level changes th

131 tral nervous system malformations, including microcephaly as well as arthrogryposis and spontaneous a

132 sis in the etiology of primary and syndromic microcephaly, as has been proposed by recent findings on

133 evaluate the ocular findings in infants with microcephaly associated with presumed intrauterine ZIKV

134 CI 0-8) per 10,000 neonates, and the risk of microcephaly associated with Zika virus infection was 95

135 dal neurons, a cell type implicated in human microcephaly associated with ZIKV infection, are an exam

136 We show that Aspm (abnormal spindle-like, microcephaly-associated) and Wdr62 (WD repeat-containing

137 urodevelopmental disorders including primary microcephaly, autism spectrum disorder, intellectual dis

138 ecife, Brazil, that included 40 infants with microcephaly born in Pernambuco state, Brazil, between M

139 ve a substantial effect on reducing cases of microcephaly but risks exacerbating the Zika virus outbr

140 ZIKV causes microcephaly by crossing the placental barrier, however,

141 lular mechanisms that cause TUBB5-associated microcephaly by exploiting two new mouse models: a condi

142 , a value lower than the limit to consider a microcephaly case.

143 In 2016, WHO declared the recent cluster of microcephaly cases and other neurological disorders repo

144 the first trimester and provide estimates of microcephaly cases assuming different levels of risk as

145 Similar clusters of microcephaly cases were also observed retrospectively in

146 ollowed by a striking increase in congenital microcephaly cases, triggering a declaration of an inter

147 ulative incidence of prenatal infections and microcephaly cases.

148 Rico and the number of associated congenital microcephaly cases.

149 e and uncertainty in the estimated number of microcephaly cases.

150 nfection has led to descriptions of neonatal microcephaly cases.

151 chers and physicians reported an increase in microcephaly cases.

152 ng antibodies in 28 mothers of children with microcephaly (cases) and 122 controls from northeastern

153 ed hypogammaglobulinemia, short stature with microcephaly, cataract, and inner retinal dysfunction wi

154 outcomes, ranging from mental retardation to microcephaly, caused by congenital HCMV infection can be

155 nd designated the viral outbreak and related microcephaly clusters as a long-term program of work.

156 With severe disease manifestations including microcephaly, congenital malformation, and Guillain-Barr

157 de causing serious human diseases, including microcephaly, congenital malformations, and Guillain-Bar

158 ern Hemisphere is associated with reports of microcephaly, congenital malformations, and Guillain-Bar

159 rol study evaluating the potential causes of microcephaly: congenital Zika virus infection, vaccines,

160 use serious neurological problems, including microcephaly, cortical thinning, and blindness during ea

161 uses intrauterine growth restriction, severe microcephaly, craniofacial anomalies, skeletal dysplasia

162 PYCR2 mutations included failure to thrive, microcephaly, craniofacial dysmorphism, progressive psyc

163 nction zebrafish CRISPR/Cas9 model exhibited microcephaly, decreased convolution of the renal tubules

164 Twenty-nine infants with microcephaly (defined by a cephalic circumference of </=

165 Cases were neonates born with microcephaly, defined as a head circumference of 2 SD be

166 Severe microcephaly, defined as head circumference 3 SD below t

167 The affected individuals showed progressive microcephaly, delayed developmental milestones, intellec

168 Constitutional mosaic aneuploidies, microcephaly, developmental delay and seizures, which ar

169 These mice present with profound microcephaly due to a loss of upper-layer neurons that c

170 o 270 infants (median, 180) may be born with microcephaly due to congenital ZIKV infection from mid-2

171 e TSEN complex can cause PCH and progressive microcephaly, emphasizing the importance of its function

172 Our data suggest that the microcephaly epidemic is a result of congenital Zika vir

173 The microcephaly epidemic, which started in Brazil in 2015,

174 t congenital foetal abnormalities, including microcephaly, following ZIKV infection of pregnant women

175 Concurrently, we investigated reports of microcephaly for evidence of congenital ZVD.

176 We could not rule out an increased risk of microcephaly from infection in other trimesters, but mod

177 hed medical records to identify all cases of microcephaly from September, 2013, to July, 2015.

178 tive incidence of ZIKV infection and risk of microcephaly given maternal infection in the first trime

179 CI, 5%-24%) of cases of congenital Zika with microcephaly had anterior segment abnormalities and 88%

180 l relationship between Zika virus (ZIKV) and microcephaly has been established, it remains unclear wh

181 Microcephaly has genetic causes, some associated with ma

182 me and fetal neurological defects, including microcephaly, has prompted intense efforts aimed at the

183 e reported in two unrelated individuals with microcephaly, hearing loss, and overlapping dysmorphic f

184 s are strikingly similar: severe disability, microcephaly, hearing loss, spasticity, and characterist

185 mal cysts, intracerebral calcifications, and microcephaly; however, the Zika virus is intensely neuro

186 gnificant associations with vision problems, microcephaly, hyperactivity, a tendency to obesity, and

187 impaired Tcf4 function results in consistent microcephaly, hyperactivity, reduced anxiety, and defici

188 and a severe neuropathology characterized by microcephaly, hypomyelination, calcification and neurona

189 re associated with decreased somatic growth, microcephaly, hypotonia, developmental delay, thinning o

190 ilure as an additional disease mechanism for microcephaly, implicating mitotic chromosome condensatio

191 e recently studied two children with primary microcephaly in an otherwise unaffected family.

192 We reasoned that by elucidating the basis of microcephaly in AS, a highly penetrant syndromic feature

193 a considerable increase in the incidence of microcephaly in Brazil raised alarms worldwide.

194 startled the world with reports of increased microcephaly in Brazil.

195 ifestations of congenital Zika syndrome with microcephaly in Colombia and Venezuela.

196 lain-Barre syndrome in adults and congenital microcephaly in developing fetuses and infants.

197 ovide a quantitative estimate of the risk of microcephaly in fetuses and neonates whose mothers are i

198 me concern regarding diagnostic criteria for microcephaly in fetuses and newborns exposed to the viru

199 ction is the apparent increased incidence of microcephaly in fetuses born to mothers infected with ZI

200 and severe clinical manifestations including microcephaly in fetuses of infected pregnant women and G

201 ka virus (ZIKV) infection is associated with microcephaly in fetuses, but the pathogenesis of ZIKV-re

202 or causing human neural disorders, including microcephaly in infants and Guillain-Barre syndrome.

203 n nervous system, that is, the occurrence of microcephaly in neonates and Guillain-Barre syndrome in

204 A recent increase in the prevalence of microcephaly in newborn infants and vision-threatening f

205 ant women has been established as a cause of microcephaly in newborns.

206 s been directly linked to increased cases of microcephaly in newborns.

207 s contributing to the increased incidence of microcephaly in recent ZIKV epidemics.

208 female maternal Ube3a-null mice reveals that microcephaly in the AS mouse model is primarily driven b

209 factor underlying impaired brain growth and microcephaly in the disorder.

210 ogenitor cells (NPCs) and led to more severe microcephaly in the mouse fetus, as well as higher morta

211 orne viruses because of its ability to cause microcephaly in utero and Guillain-Barre syndrome in adu

212 erine growth restriction, including signs of microcephaly, in mice.

213 a) congenital brain abnormalities, including microcephaly, in the foetuses and offspring of pregnant

214 range of congenital abnormalities, including microcephaly, in the infant, a condition now collectivel

215 velopmental delays, intellectual disability, microcephaly, intractable seizures, and progressive brai

216 It was characterized by ID, ASD, microcephaly, intrauterine growth retardation, febrile s

217 Among the cases of microcephaly investigated from January 2016 through Apri

218 Primary microcephaly is a congenital brain malformation characte

219 Microcephaly is a cortical malformation disorder charact

220 Although microcephaly is a feature of Fetal Alcohol Syndrome, it

221 Microcephaly is an important sign of neurological malfor

222 virus (ZIKV), a re-emerging flavivirus, and microcephaly is an urgent global health concern.

223 cellular pathology driving TUBB5-associated microcephaly is cell death.

224 me is preferable to refer to these cases, as microcephaly is just one of the clinical signs of this c

225 hough epidemiological evidence suggests that microcephaly is not associated with the original, Africa

226 nism by which the Zika virus can cause fetal microcephaly is not known.

227 etuses, but the pathogenesis of ZIKV-related microcephaly is not well understood.

228 eaks of Zika virus infection and clusters of microcephaly is that Zika virus infection during pregnan

229 Although microcephaly is the hallmark of this disease, the ocular

230 brain tissue of infected fetus with neonatal microcephaly, is located at the dimer interface.

231 and 3 of 4 pregnancies had adverse outcomes (microcephaly, major fetal neurologic abnormalities, and

232 ak of Zika virus (ZIKV) and associated fetal microcephaly mandates efforts to understand the molecula

233 Two controls (neonates without microcephaly), matched by expected date of delivery and

234 Autosomal-recessive primary microcephaly (MCPH) is a neurodevelopmental disorder cha

235 Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by

236 covery framework for a unique human disease, microcephaly-micromelia syndrome (MMS).

237 he embryonic brain of the ZIKV-induced mouse microcephaly model.

238 IQR of 110 to 290 total cases of congenital microcephaly, mostly attributable to ZIKV infection, cou

239 r pattern of severe intellectual deficiency, microcephaly, movement disorders, and/or early-onset int

240 irus in 2014 and subsequent association with microcephaly, much work has focused on the development o

241 ociated: brain abnormalities with or without microcephaly, neural tube defects and other early brain

242 flexes, epilepsy, acquired hydrocephalus and microcephaly, neurodevelopmental delay, gastrointestinal

243 erences between groups regarding the rate of microcephaly, neuroimaging abnormalities, neurological s

244 In the absence of Zika virus, microcephaly occurs in approximately 7 per 10000 live bi

245 rmalities were statistically associated with microcephaly (odds ratio [OR], 19.1; 95% CI, 6.0-61.0),

246 onance imaging (MRI) without the presence of microcephaly or intracranial calcifications.

247 screening eye examinations for infants with microcephaly or laboratory-confirmed Zika virus infectio

248 We sequenced 136 microcephaly or macrocephaly (Mic-Mac)-related genes and

249 Description of eye findings, presence of microcephaly or other central nervous system abnormaliti

250 Americas and the links between infection and microcephaly, other serious neurologic conditions, and f

251 ed the role of this gene in neurogenesis and microcephaly over a decade ago.

252 find a potential Zika-related, low risk for microcephaly per pregnancy, but with significant public

253 are likely yielding to the worsening of the microcephaly phenotype postnatally.

254 ction, including Guillain-Barre syndrome and microcephaly, potential interactions between ZIKV and de

255 detected in Brazil in May 2015, and cases of microcephaly potentially associated with ZIKV infection

256 e spread of Zika virus (ZIKV) and associated microcephaly present an urgent need for sensitive and sp

257 the attention of the world to the problem of microcephaly, prevention of all infectious causes of mic

258 neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intel

259 localization, and both proteins, as well as microcephaly protein Cep63, required to localize CENPJ/C

260 ons and cerebellum, affected individuals had microcephaly, psychomotor delay, and ataxia.

261 forebrains of other mouse models, including microcephaly, reduced neurogenesis, and abnormal cell pr

262 n as dominant-negative alleles and result in microcephaly, reduced neuronal proliferation, and cerebe

263 axis, microphthalmia with disorganized lens, microcephaly, reduced touch-evoked motility, and highly

264 MCPH1 gene, mutated in primary microcephaly, regulates cell progression into mitosis.

265 ities, and 4 had brain abnormalities without microcephaly; reported brain abnormalities included intr

266 link between Zika virus (ZIKV) infection and microcephaly requires in vivo models of ZIKV infection i

267 Recent studies have revealed severe cases of microcephaly resulting from human mutations in the NDE1

268 reveal that the severity of NDE1-associated microcephaly results not from defects in mitosis, but ra

269 rol and Prevention (CDC) recommendation that microcephaly should be defined as an occipitofrontal cir

270 nting at ages 2 to 4 months with progressive microcephaly, spastic quadriparesis, and global developm

271 sults of limited testing for other causes of microcephaly, such as genetic disorders and viral and ba

272 humans result in intellectual disability and microcephaly suggest that KATNAL1 may play a prominent r

273 Co-injected embryos exhibited an increased microcephaly, suggesting the presence of genetic interac

274 In primary microcephaly the genetic determinants frequently involve

275 allosum deficiency, and by postnatal Day 21, microcephaly; the mice died at an early age.

276 cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, developmental delay,

277 7 showed lethality, extensive fiber defects, microcephaly, thinner cortices, and sensory motor gating

278 ed the suspected link between Zika virus and microcephaly to be a Public Health Emergency of Internat

279 Three male infants were born with microcephaly to mothers who had a viral syndrome during

280 ause the neurodevelopmental disorder primary microcephaly type 1.

281 Disruption of the mouse ortholog results in microcephaly underlain by reduced proliferation of neoco

282 severe clinical birth defects, particularly microcephaly, warranting urgent study of the molecular m

283 In November, 2015, an epidemic of microcephaly was reported in Brazil, which was later att

284 In this model, the baseline prevalence of microcephaly was two cases (95% CI 0-8) per 10,000 neona

285 Including baseline cases of microcephaly, we estimated that an IQR of 110 to 290 tot

286 or congenital brain abnormalities, including microcephaly, we included 72 items; for eight of ten cau

287 he mechanism of Zika virus (ZIKV)-associated microcephaly, we performed immunolabeling on brain tissu

288 To investigate how ZIKV infection leads to microcephaly, we used human embryonic stem cell-derived

289 Two controls without microcephaly were matched to each case by expected date

290 problems, musculoskeletal abnormalities, and microcephaly were present in the majority of cases.

291 h defects, primarily brain abnormalities and microcephaly, whereas among women with first-trimester Z

292 can cause congenital malformations including microcephaly, which has focused global attention on this

293 IKV) infection during pregnancy is linked to microcephaly, which is attributed to infection of develo

294 se Control and Prevention) to cause neonatal microcephaly, which posed a significant public health em

295 Consequences of vertical infection include microcephaly with brain and eye anomalies, and consequen

296 of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies.

297 performed at 29 weeks of gestation revealed microcephaly with calcifications in the fetal brain and

298 ataxia with oculomotor apraxia 4 (AOA4) and microcephaly with early-onset seizures and developmental

299 vascular development, resulting in postnatal microcephaly with extensive brain damage.

300 congenital Zika virus infection: (1) severe microcephaly with partially collapsed skull; (2) thin ce