ライフサイエンスコーパス: dysgenesis

1 leaving behind a dysplastic pole ("segmental dysgenesis").

2 ated with human sex reversal (46, XY gonadal dysgenesis).

3 ed less-severe coagulopathy without vascular dysgenesis.

4 asia, encephalocele, polydactyly and biliary dysgenesis.

5 nction, resulting in part from photoreceptor dysgenesis.

6 elements in their ability to repress hybrid dysgenesis.

7 emale germ line and for repression of hybrid dysgenesis.

8 maternal piRNA inheritance underlies hybrid dysgenesis.

9 ith leaky SCID, Omenn syndrome, or reticular dysgenesis.

10 sterile progeny, a phenomenon called hybrid dysgenesis.

11 strongly represses P-element-induced hybrid dysgenesis.

12 , microcornea, coloboma and anterior segment dysgenesis.

13 expressing the HSPG agrin have severe ocular dysgenesis.

14 ts including deafness and semicircular canal dysgenesis.

15 ts, but have little or no ability to repress dysgenesis.

16 ll1 gene results in renal agenesis or severe dysgenesis.

17 hotoreceptors in RP patients, albeit with OS dysgenesis.

18 on, epilepsy, growth delay and cranio-facial dysgenesis.

19 been associated with anterior segment ocular dysgenesis.

20 h Tyr deficiency increasing the magnitude of dysgenesis.

21 reatening glomerular nephropathy and gonadal dysgenesis.

22 and iris hypoplasia, and trabecular meshwork dysgenesis.

23 genesis and genome instability during hybrid dysgenesis.

24 f glaucomas associated with anterior segment dysgenesis.

25 , cognitive impairment and gonadal and renal dysgenesis.

26 gion of cortical volume loss adjacent to the dysgenesis.

27 GC) than DBP-FW treatment; DBP-LW induces no dysgenesis.

28 ing pattern of sarcomere disorganization and dysgenesis.

29 I in patients with apparently focal cerebral dysgenesis.

30 not seem to confer increased risk for organ dysgenesis.

31 ve a 46,XY karyotype with partial testicular dysgenesis.

32 This causes a phenomenon known as I-R hybrid dysgenesis.

33 ressed in heart and brain may cause cerebral dysgenesis.

34 nd speak to the possible cause of XX ovarian dysgenesis.

35 hypoplasia correlates with mandibular artery dysgenesis.

36 ghts into microcephaly associated with brain dysgenesis.

37 ance of these cues results in CC agenesis or dysgenesis.

38 he inheritance patterns of TEs during hybrid dysgenesis.

39 ere nonprogressive microcephaly and cerebral dysgenesis.

40 the developing eye leads to anterior segment dysgenesis.

41 a disorder characterized by anterior segment dysgenesis.

42 within the MPW, is strongly related to focal dysgenesis.

43 e diarrhea secondary to enteroendocrine cell dysgenesis.

44 duals affected by syndromal anterior segment dysgenesis.

45 tochondrial translation in mammalian gonadal dysgenesis.

46 hybrid sterility syndrome termed P-M hybrid dysgenesis.

47 is associated with TGCTs in cases of gonadal dysgenesis.

48 %), limbal dermoid (21.9%), anterior segment dysgenesis (15.2%), and keratoconus (14.3%).

49 to the fibrosis that often accompanies lens dysgenesis, a consideration for understanding organ syst

50 profound hematopoietic defects of reticular dysgenesis, a disease associated with mutations of the A

51 antisense constructs also repressed gonadal dysgenesis, a manifestation of P activity in the female

52 f the P-element transposon during P-M hybrid dysgenesis, a syndrome that affects germline development

53 We show that P-M hybrid dysgenesis activates both P elements and resident transp

54 n associated predominant pattern of cortical dysgenesis allowing some phenotype-genotype correlation.

55 d deletion of the GDNF gene results in renal dysgenesis and abnormal development of the enteric nervo

56 equently experience development of sarcomere dysgenesis and altered cardiac geometry, and the heart f

57 associated with unilateral anterior segment dysgenesis and bilateral cleft of the soft and hard pala

58 range of defects including anterior segment dysgenesis and cataracts.

59 ied in a family with anterior segment ocular dysgenesis and cataracts.

60 gene was found to underlie anterior segment dysgenesis and cataracts.

61 und that mutant mice show kidney agenesis or dysgenesis and defective enteric innervation.

62 e play a role in the pathogenesis of nephron dysgenesis and dysfunction.

63 hanism, targeted by DBP that determines both dysgenesis and early (during the MPW) fetal Leydig cell

64 Eyes of nee mice exhibit anterior segment dysgenesis and early-onset glaucoma.

65 ems including nephropathy, blastoma, gonadal dysgenesis and genital discordance.

66 lomeric P elements repress P-induced gonadal dysgenesis and germ-line hypermutability in both sexes.

67 omolog FREAC3 is a candidate gene for ocular dysgenesis and glaucoma mapping to chromosome 6p25-pter,

68 icient testis lay the foundation for gonadal dysgenesis and infertility in adult mice and, potentiall

69 dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver

70 t-cortical dimple complex and focal cortical dysgenesis and its contribution to diagnosis.

71 gh number of premature infants with alveolar dysgenesis and lung dysplasia, and the accumulating evid

72 a marker for subtle cases of focal cortical dysgenesis and may be due to maldevelopment.

73 al abnormalities (cataract, anterior segment dysgenesis and microphthalmia) co-segregated with a tran

74 r sex-reversed XY females, each with gonadal dysgenesis and other variable malformations, and with te

75 trong repressors of pupal lethality, gonadal dysgenesis and P-element-mediated mutability; however, i

76 gnaling, in Sertoli cells led to testis cord dysgenesis and proliferative defects similar to those of

77 recessive disorder characterized by ovarian dysgenesis and sensorineural hearing loss.

78 Mutations in SRY cause XY gonadal dysgenesis and somatic sex reversal.

79 ort the mechanistic basis of the hippocampal dysgenesis and the loss of pheromone responses, and show

80 ant risk groups include syndromes of gonadal dysgenesis and Ullrich-Turner syndrome.

81 umber of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that this reg

82 aling, which results in optic disc and nerve dysgenesis and, ultimately, ocular coloboma.

83 athy, ischemic/thrombotic injuries, vascular dysgenesis, and blood-brain barrier (BBB) disruption wit

84 megaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, su

85 sia, irdiocorneal angle malformation, cornea dysgenesis, and cataract.

86 convoluted anterior neuroepithelium, caudal dysgenesis, and failure of chorioallantoic fusion.

87 well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring.

88 velop severe motor-sensory defects, cortical dysgenesis, and microcephaly.

89 ing leaky SCID, Omenn syndrome, or reticular dysgenesis; and 3% had a history of enzyme replacement o

90 Tregs) and development of autoimmune ovarian dysgenesis (AOD) and autoimmune dacryoadenitis (ADA) in

91 d linkage of D3Tx-induced autoimmune ovarian dysgenesis (AOD) and its intermediate phenotypes, antiov

92 ls and the development of autoimmune ovarian dysgenesis (AOD) in A/J and (C57BL/6J x A/J)F(1) (B6AF(1

93 onatal thymectomy-induced autoimmune ovarian dysgenesis (AOD) is characterized by the development of

94 Elevated IOP and anterior segment dysgenesis are two known risk factors for glaucoma.

95 sing human sex reversal (46, XY pure gonadal dysgenesis) are clustered in this domain.

96 Anterior segment dysgenesis (ASD) disorders encompass a spectrum of devel

97 lmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence o

98 Ocular anterior segment dysgenesis (ASD) is a complex and poorly understood grou

99 ost common causes of ocular anterior segment dysgenesis (ASD), and confer a high risk for secondary g

100 8 causes a wide spectrum of anterior segment dysgenesis (ASD), including microphthalmia, iris hypopla

101 involvement in anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts in humans.

102 e 2 years progressing to atrophy and ovarian dysgenesis at puberty.

103 ts is intact during early stages of vascular dysgenesis before hemorrhage.

104 genital cataract and ocular anterior segment dysgenesis both demonstrate extensive genetic and phenot

105 organs (e.g. penile hypospadias and prostate dysgenesis but normal testis), pointing to a role for Fk

106 rovide the first evidence for how testicular dysgenesis can result after normal testis differentiatio

107 Cerebral dysgenesis (CD) is associated with disruption of the nor

108 for the following features of focal cortical dysgenesis: cortical thickening, indistinct junction bet

109 loss of the anterior epithelium, fiber cell dysgenesis, denucleation defects, and cataracts.

110 Anterior segment dysgenesis describes a group of heterogeneous developmen

111 normally until E9.5 to E10.5, when placental dysgenesis developed.

112 mutation present in a patient of XX ovarian dysgenesis, diminish the association and functional syne

113 Clinically observed dysgenesis does not correlate with IOP, however, and the

114 experienced a time-specific and time-limited dysgenesis during this time.

115 Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range f

116 past puberty have been reported, and ovarian dysgenesis has not previously been associated with this

117 ibit profound defects, including hippocampal dysgenesis, hydrocephalus, chronic infections and inflam

118 n 46,XY DSD with partial or complete gonadal dysgenesis implicate this pathway in normal human sex de

119 r and hippocampal atrophy in 1, and cortical dysgenesis in 1.

120 versing 9p deletion, suggesting that gonadal dysgenesis in 9p-deleted individuals might be due to com

121 These findings demonstrate that caudal dysgenesis in acd embryos is secondary to p53-dependent

122 Testicular dysgenesis in activin betaA and Smad4 conditional knocko

123 In many cases of callosal dysgenesis in both human patients and mouse models, misg

124 astroglial migration underlies the callosal dysgenesis in conditional Fgfr1 knockout mice, suggestin

125 The more severe testis dysgenesis in DBP-MPW animals may result from the presen

126 Hybrid dysgenesis in Drosophila is a syndrome of gonadal atroph

127 Known examples of hybrid dysgenesis in Drosophila melanogaster result from mobili

128 An example of hybrid dysgenesis in Drosophila virilis is unique in that multi

129 The severe dysgenesis in eyes lacking both CYP1B1 and TYR was allev

130 d for repression of P-strain-induced gonadal dysgenesis in females and for repression of transposase-

131 recessive disorder characterized by ovarian dysgenesis in females, sensorineural deafness in both ma

132 th normal spine development as well as spine dysgenesis in FXS, highlighting the importance of super-

133 each cause adrenal insufficiency and gonadal dysgenesis in humans, although the pathological features

134 nt cataract and anterior segment mesenchymal dysgenesis in humans.

135 se activation underlies the anterior segment dysgenesis in lama1 mutants.

136 d as a potential cause of age-related tissue dysgenesis in mammals.

137 ated XY(DMY-) mutants to investigate gonadal dysgenesis in medaka.

138 Tyr also modified the drainage structure dysgenesis in mice with a mutant Foxc1 gene, which is al

139 urofibromatosis type 1 syndrome, causes lens dysgenesis in mouse.

140 ping murine hippocampus and that hippocampal dysgenesis in nor-1-/- mice may be an underlying cause o

141 ant that is useful for investigating gonadal dysgenesis in phenotypic female patients with the 46, XY

142 tion that represses P-element-induced hybrid dysgenesis in the Drosophila germ line.

143 iner/Tc1 elements can be mobilized in hybrid dysgenesis; in particular, certain dysgenic crosses in D

144 Seventy-one patients had cortical dysgenesis, including 27 with cellular proliferation abn

145 anomalies in humans, including 46,XY gonadal dysgenesis, indicating that WT1 plays a critical role in

146 tory of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT and a

147 e that anomalous brain circuitry of callosal dysgenesis is determined by long-distance plasticity, a

148 How antiquitin dysfunction leads to cerebral dysgenesis is unknown.

149 fetal taurine deprivation can cause cortical dysgenesis, it is possible that taurine influences neoco

150 Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swyer syndr

151 easure was related to objectively quantified dysgenesis (Leydig cell aggregation) at e21.5 in male fe

152 However, DBP-induced focal testicular dysgenesis (Leydig cell aggregation, ectopic Sertoli cel

153 tomical marker for autism, nor is cerebellar dysgenesis likely to be solely responsible for clinical

154 halmia, aniridia, albinism, anterior segment dysgenesis, Marfan syndrome, ectopia lentis, neurofibrom

155 e hippocampal injury and that focal cortical dysgenesis may play a role in the etiology of febrile co

156 Muscular dysgenesis (mdg/mdg), a mutation of the skeletal muscle

157 amma(1), we examined the channel in muscular dysgenesis mice.

158 In both P- and I-element-mediated hybrid dysgenesis models, daughters show a markedly different c

159 nd provide a molecular basis for the gonadal dysgenesis observed in ataxia telangiectasia, the human

160 In families where anterior segment dysgenesis occurs together with cerebral hemorrhages, ge

161 r pigmented neuroectodermal disorganization, dysgenesis of angle structures, and a hypoplastic or dis

162 subset of HPE patients exhibits preferential dysgenesis of forebrain dorsal midline structures with u

163 e FGF superfamily, caused agenesis or severe dysgenesis of kidney, lung, specific cutaneous structure

164 me) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (includi

165 s is consistent with widespread agenesis and dysgenesis of organs observed in Fgf10-/- mice.

166 Dysgenesis of the anterior segment of the eye delineates

167 Complete lack of type VIII collagen leads to dysgenesis of the anterior segment of the eye: a globoid

168 uptions and coarctations of the aortic arch, dysgenesis of the aortic and pulmonary valves, ventricul

169 Axon pathfinding defects included dysgenesis of the corpus callosum and hippocampal commis

170 ormalities including absent olfactory bulbs, dysgenesis of the corpus callosum, absent septum pelluci

171 ncluding hypoplasia of oculomotor nerves and dysgenesis of the corpus callosum, anterior commissure,

172 iring mechanical ventilation, brain atrophy, dysgenesis of the corpus callosum, cerebellar vermis hyp

173 e identified agenesis of the superior olive, dysgenesis of the facial nucleus, reduced numbers of Pur

174 plexus and are subject to agenesis or severe dysgenesis of the kidneys.

175 is appears to be attributable to agenesis or dysgenesis of the majority of RHT-projecting retinal gan

176 strated myriad malformations associated with dysgenesis of the pars inferior of the otocyst.

177 owth factor receptor are involved in biliary dysgenesis of the PCK rat, with the mechanisms of cyst p

178 signalling pathway that is characterized by dysgenesis of the retinal and hyaloid vasculature.

179 h (from cardiac and respiratory arrest) with dysgenesis of the testes in males [Online Mendelian Inhe

180 monogenic disease (sudden infant death with dysgenesis of the testes syndrome), a rare complex disea

181 Encountering a patient with lacrimal dysgenesis or agenesis is not an uncommon occurrence in

182 inflammatory mediators that cause keratocyte dysgenesis or apoptosis.

183 er to detect than other features of cortical dysgenesis or contributed directly to the MR imaging dia

184 FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women,

185 direct evidence has been produced that links dysgenesis per se to somatic cell dysfunction, in partic

186 nvestigated mechanisms leading to the caudal dysgenesis phenotype of acd mutant embryos.

187 ound to worsen the drainage structure/ocular dysgenesis phenotype of Cyp1b1-/- mice, suggesting that

188 of highly penetrant, ocular anterior segment dysgenesis phenotypes.

189 rk reveals a genetic link between testicular dysgenesis, pluripotency regulation, and teratoma suscep

190 insufficiency, and in the liver with biliary dysgenesis, portal tract fibrosis, and portal hypertensi

191 s been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significan

192 ermembrane space and is mutated in reticular dysgenesis (RD), a rare form of severe combined immunode

193 rmalities included anterior segment and lens dysgenesis, retinal folds, chorioretinal coloboma, and P

194 of neonatal neutropenia, including reticular dysgenesis, Schwachman-Diamond syndrome, Kostmann syndro

195 letal abnormalities, including pelvic girdle dysgenesis, skull bone fusions and polydactyly.

196 The testicular dysgenesis syndrome (TDS) hypothesis proposes that malde

197 pting chemicals may contribute to testicular dysgenesis syndrome (TDS), a proposed constellation of i

198 and is used as a model for human testicular dysgenesis syndrome (TDS).

199 lar cancer, they can constitute a testicular dysgenesis syndrome (TDS).

200 ine disruption and the associated testicular dysgenesis syndrome (TDS).

201 ession might be responsible for the observed dysgenesis syndrome and the simultaneous mobilization of

202 ght also be associated with other testicular dysgenesis syndrome disorders, namely cryptorchidism and

203 A hybrid dysgenesis syndrome occurs in Drosophila virilis when ma

204 single Hox gene, HOXA1 (Athabascan Brainstem Dysgenesis Syndrome, Bosley-Salih-Alorainy Syndrome), ca

205 of primitive gonad and results in testicular dysgenesis syndrome, which may result in infertility and

206 normalities, neural tube defects, and caudal dysgenesis syndromes.

207 tal abnormalities otherwise known as thyroid dysgenesis (TD).

208 trate a novel pathogenic mechanism for renal dysgenesis that may explain how putative activating muta

209 Patterns of brain dysgenesis that resemble those in the Zellweger syndrome

210 renia suggest that the more severe the brain dysgenesis, the earlier the onset of psychotic symptoms.

211 In all known examples of hybrid dysgenesis, the paternal germ line transmits the TEs in

212 ents may also transmit an ability to repress dysgenesis to their offspring independently of the telom

213 zzle, we investigated patients with callosal dysgenesis using structural and functional neuroimaging,

214 Dysgenesis was also negatively correlated (R(2) = -0.5)

215 Dysgenesis was found only in animals exposed to DBP duri

216 Complete ventricular dysgenesis was observed in Nkx2.5(-/-)dHAND(-/-) mutants

217 Cortical dysgenesis was seen in the form of deep laminar cell los

218 terogenous presentations of anterior segment dysgenesis was seen.

219 ITX2, and FOXC1) related to anterior segment dysgenesis were downregulated.

220 i sensitizing C57BL/6J mice to agrin-induced dysgenesis were identified.

221 ilateral microphthalmia and anterior segment dysgenesis, were unlikely to be caused by the microdelet

222 sp/CP) transgenes are able to induce gonadal dysgenesis when the transposase they encode has P-elemen

223 nosis of Frasier syndrome with 46,XY gonadal dysgenesis, whereas her sister has progressive glomerulo

224 over two generations with iridocorneal angle dysgenesis, which can be regarded as a MCOR endophenotyp

225 with XY chromosomal sex but complete gonadal dysgenesis, which is classified as 78, XY disorder of se

226 Dax1 in mice also reveals primary testicular dysgenesis, which is manifest by obstruction of the rete

227 association of Zellweger syndrome-like brain dysgenesis with a defect of a single peroxisomal enzyme

228 rare entity, characterized by sacrococcygeal dysgenesis with an abrupt termination of a blunt-ending

229 Mutations in SRY cause 46 XY gonadal dysgenesis with female somatic phenotype (Swyer syndrome

230 Mutations in SRY cause gonadal dysgenesis with female somatic phenotype.

231 XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous