ライフサイエンスコーパス: coloboma

1 but fail to close the optic fissure (retinal coloboma).

2 l microphthalmia and bilateral chorioretinal coloboma.

3 , including anophthalmia, microphthalmia and coloboma.

4 segment disorders such as microphthalmia and coloboma.

5 deleted in the one family segregating ocular coloboma.

6 enes have been found in few individuals with coloboma.

7 clinical observations in patients with uveal coloboma.

8 n family with cataract, microcornea and iris coloboma.

9 family with autosomal dominant non-syndromic coloboma.

10 the human optic fissure and pathogenesis of coloboma.

11 chorioretinal atrophy and congenital retinal coloboma.

12 ts lack a subset of RPE cells and/or exhibit coloboma.

13 ventral fissure fails to close resulting in coloboma.

14 egregate with autosomal dominantly inherited coloboma.

15 to be related to the extent of the choroidal coloboma.

16 pithelium at the edge of the retinochoroidal coloboma.

17 rior tumor associated with a retinochoroidal coloboma.

18 and nerve dysgenesis and, ultimately, ocular coloboma.

19 -Ras-ERK signaling axis in preventing ocular coloboma.

20 ave microphthalmic eyes with a large ventral coloboma.

21 se gives rise to an ocular disorder known as coloboma.

22 h closely resembles that seen in human uveal coloboma.

23 oculocutaneous albinism, microphthalmia, and colobomas.

24 results in enhanced Hh pathway activity and colobomas.

25 e limbal dermoids (2 cases), lateral canthal coloboma (3 cases), and facial nerve palsy (1 case).

26 lack of choroid fissure closure (known as a coloboma), a loss of optic nerve astrocytes, and anomalo

27 the eye, Pax2 deficiency is associated with coloboma, a loss of astrocytes in the optic nerve and re

28 entral optic cup results in the formation of colobomas, a condition typically associated with a loss

29 is characterized by the presence of retinal colobomas, a paucity of retinal ganglion cells, and axon

30 Uveal coloboma affected only the anterior segment in 8 patient

31 Anophthalmos, microphthalmos, and typical coloboma (AMC) form an interrelated spectrum of congenit

32 stage and eye defects including optic nerve coloboma and absence of ocular muscles.

33 at include congenital cataract, microcornea, coloboma and anterior segment dysgenesis.

34 enidate increased locomotor activity in both coloboma and control mice.

35 craniofacial dysmorphic features, choroidal coloboma and endoderm-derived organ malformations in liv

36 1) the optic disks fail to close, leading to coloboma and loss of the eye-nerve boundary; (2) optic n

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

38 ssion of the resultant mutant protein caused coloboma and microphthalmia in zebrafish, and disruption

39 he triallelic mutant develops severe retinal coloboma and microphthalmia with full penetrance.

40 Microphthalmia, coloboma and persistent fetal vasculature within the vit

41 sence of an open fetal fissure, showing that coloboma and retinal folding represent distinct VAD-depe

42 In contrast to the differences between coloboma and wild-type mice, there was no significant di

43 d in the dentate gyrus of SNAP-25 transgenic coloboma and wild-type mice.

44 wout mutants develop unilateral or bilateral colobomas and as a result, the retina and retinal pigmen

45 terized by kidney abnormalities, optic nerve colobomas and mild sensorineural deafness.

46 included a saucer-shaped optic cup, ventral coloboma, and a deficiency of periocular mesenchyme.

47 Exencephaly, coloboma, and abnormal proliferation in humdy embryos ar

48 pectively for demographic profile, extent of coloboma, and associated lenticular changes.

49 types (curved body shape, retinal dystrophy, coloboma, and decreased cilia) in a CRISPR/Cas9-engineer

50 conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CH

51 ens dysgenesis, retinal folds, chorioretinal coloboma, and Peters anomaly.

52 in morning glory syndrome (MGS), optic disc colobomas, and optic disc pits, and to explore possible

53 While most cases of coloboma are sporadic, autosomal dominant, autosomal rec

54 osis of congenital iridolenticular choroidal coloboma between January 2011 and December 2012 were rev

55 A distinct type of cataract, called "coloboma cataract" (characterized by linear opacity in t

56 distinct description with the nomenclature "coloboma cataract" to be considered in the clinical grad

57 teristic associated anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distin

58 s were located at the temporal margin of the coloboma closest to the macula.

59 al margin of retinochoroidal and optic nerve colobomas closest to the fovea has not been established

60 o mouse chromosome 2, in the vicinity of the Coloboma ( Cm ) deletion.

61 EEG analysis of Coloboma (Cm/+), an autosomal dominant mutant mouse lack

62 The mouse mutant coloboma (Cml+) exhibits profound spontaneous locomotor

63 tic fissure, causing exencephaly and retinal coloboma, common birth defects.

64 l kinks), craniofacial and ocular anomalies (colobomas, corneal opacities).

65 ging from delayed RPE pigmentation to severe coloboma, depending on the combination of Otx factors th

66 ients with microphthalmia, anophthalmia, and coloboma disease without a recognized syndromic etiology

67 re defects, resulting in microphthalmia with coloboma, disturbed lamination, and mislocalization of a

68 Microphthalmia, anophthalmia, and coloboma form an interrelated spectrum of congenital eye

69 molecules and cellular mechanisms underlying coloboma formation.

70 with CNV and retinochoroidal and optic nerve coloboma from 1995-2015 who underwent OCT imaging using

71 Although some patients with coloboma had evidence of extraocular abnormalities, the

72 le anomaly condition characterized by ocular coloboma, heart defects, atresia of the choanae, retarde

73 ple anomaly disorder characterized by ocular Coloboma, Heart defects, Atresia of the choanae, Retarde

74 so named for its cardinal features of ocular coloboma, heart defects, choanal atresia, growth retarda

75 identified in patients with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growt

76 th a variety of phenotypes, including ocular coloboma, heart defects, choanal atresia, retarded growt

77 Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation

78 CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, ment

79 enetic alterations have been associated with coloboma; however, molecular mechanisms leading to colob

80 ilies with autosomal-dominant inheritance of coloboma identified two different cosegregating heterozy

81 ormalities in 8 eyes (47.1%), bilateral iris coloboma in 1 patient (2 eyes [11.8%]), and lens subluxa

82 and combined optic nerve and retinochoroidal coloboma in 6 eyes.

83 ively active Ras signaling can rescue ocular coloboma in the FGF signaling mutants.

84 iency is likely to be responsible for ocular coloboma in this family.

85 Moreover, colobomas in blowout could be suppressed by pharmacologi

86 ng the Hh pathway with cyclopamine prevented colobomas in ptch2(uta1) mutant embryos.

87 characteristic of CHARGE syndrome, including coloboma, inner and outer ear malformations, heart outfl

88 Ocular coloboma is a common eye malformation resulting from inc

89 Coloboma is a complex disorder with a variable prognosis

90 The mouse mutation coloboma is a contiguous gene defect that leads to elect

91 edges of the fissure.SIGNIFICANCE STATEMENT Coloboma is an ocular disorder that may result in a loss

92 Congenital iridolenticular choroidal coloboma is associated with early cataractous changes.

93 dominant human disorder in which optic disc coloboma is associated with kidney abnormalities.

94 Coloboma is often associated with microphthalmia and/or

95 frequently observed defect is an optic stalk coloboma leading to the misdifferentiation of the optic

96 Bilateral coloboma-like atrophic macular lesions were observed in

97 ssified as microphthalmia, anophthalmia, and coloboma (MAC) and inherited retinal dystrophies, collec

98 Coloboma mice also exhibit increased recurrent inhibitio

99 , markedly reduced the locomotor activity in coloboma mice but increased the activity of control mice

100 nt of SNAP-25 in the hyperactive behavior of coloboma mice, which can be ameliorated by the indirect

101 e but increased inhibition in non-transgenic coloboma mice.

102 Here we report on five individuals with coloboma, microcephaly, developmental delay, short statu

103 accompanied by ocular abnormalities such as coloboma, microphthalmia, or even anophthalmia.

104 ormations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation wi

105 ical coloboma, optic pit (and other atypical colobomas), morning glory anomaly, and extrapapillary ca

106 optic nerve anomalies, including optic nerve coloboma, morning glory disc, and peripapillary staphylo

107 results refine the observations made in the coloboma mouse mutant, a proposed mouse model of ADHD, a

108 pal synaptic circuitry of SNAP-25 transgenic coloboma mutant mice.

109 Analysis of one such coloboma mutant, uta(1), identified a splice-acceptor mu

110 tments were used to clone and characterize a coloboma mutant.

111 gmatogenous retinal detachment (n = 18; 3%), coloboma (n = 17; 3%), astrocytic hamartoma (n = 15; 2%)

112 , 46%), lens subluxation (n = 11, 27%), lens coloboma (n = 8, 20%), retrolental neoplastic cyclitic m

113 al degeneration) and in two models of ocular coloboma (noi(tu29a) and gup(m189); congenital optic fis

114 ases in which human patients have optic disc coloboma not associated with renal dysplasia.

115 42 in the mutation-negative group; P=.014), coloboma of the eye (55 of 62 in the mutation-positive g

116 CHD7, a causal locus in the CHARGE syndrome (coloboma of the eye, heart anomaly, atresia of the choan

117 of the CHD7 gene associated with the CHARGE (coloboma of the eye, heart defects, atresia of the choan

118 by a complex constellation of birth defects (Coloboma of the eye, Heart defects, Atresia of the choan

119 trabismus, cataracts, juvenile glaucoma, and coloboma of the eyelid, iris, and lens.

120 by microcornea with increased axial length, coloboma of the iris and of the optic disc, and severe m

121 in this patient, included ptosis, esotropia, coloboma of the iris, retina, choroid and optic disc, an

122 rophthalmic OFCD, 32 (23%) nonmicrophthalmic coloboma (OFCD), 9 (6%) anophthalmic, and 5 (4%) were un

123 omalies of the optic disc, including typical coloboma, optic pit (and other atypical colobomas), morn

124 e affected by AMC, of which 153 had isolated coloboma or coloboma with microphthalmos.

125 h a concurrent anatomic abnormality, such as coloboma or microcornea, or a known family history of fa

126 ndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, a

127 tages, however, noggin overexpression caused colobomas, pecten agenesis, replacement of the ventral R

128 show a substantial rescue of the Foxg1(-/-) coloboma phenotype, which correlates with a rescue in mo

129 wout that presents with a variably penetrant coloboma phenotype.

130 ected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as pro

131 condition of retinal dystrophy and bilateral coloboma, present in varying degrees in a large, five-ge

132 h drugs were found to reduce the size of the coloboma, providing molecular evidence that cell death i

133 ma; however, molecular mechanisms leading to coloboma remain largely unknown.

134 Colobomas result from defects in optic stalk morphogenes

135 Ninety-nine patients with uveal coloboma seen at the National Eye Institute.

136 In addition, ocular coloboma segregated with disease in one family (oculo-ot

137 llectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial fea

138 rom the systemic evaluation of patients with coloboma should be interpreted with caution and in view

139 Coloboma shows extensive locus heterogeneity associated

140 transgene encoding SNAP-25 was bred into the coloboma strain to complement the Snap deletion, the hyp

141 Two families have been reported with renal-coloboma syndrome and mutations of the PAX2 gene.

142 Renal-coloboma syndrome is a recently described autosomal domi

143 mans, mutations in the PAX2 gene cause renal coloboma syndrome that is characterized by kidney abnorm

144 Renal-coloboma syndrome, also known as papillorenal syndrome,

145 Renal-coloboma syndrome, resulting from mutations in Pax2, is

146 d in the five reports of patients with renal-coloboma syndrome, to date, but PAX2 expression patterns

147 PAX2, mutations of which cause VUR in renal-coloboma syndrome.

148 viously described in two siblings with renal-coloboma syndrome.

149 malities may be additional features of renal-coloboma syndrome.

150 In particular, we observed coloboma, transdifferentiation of the dorsal and ventral

151 ociated with retinochoroidal and optic nerve coloboma using optical coherence tomography (OCT) and th

152 -corrected visual acuity (BCVA) of eyes with coloboma was >/=20/40 in 45% of eyes; 23% of eyes had BC

153 The third tumor associated with a coloboma was CRX(-) and NeuN(-).

154 An optic nerve coloboma was present in 2 eyes and combined optic nerve

155 rized by linear opacity in the region of the coloboma), was observed in 29% of cases.

156 Optic disc colobomas were found in 5 eyes, and the characteristic f

157 issolution of the basal lamina, and prevents coloboma, whereas supplementation at E13.5 does not.

158 y AMC, of which 153 had isolated coloboma or coloboma with microphthalmos.