ライフサイエンスコーパス: Leber congenital amaurosis

1 xon 2 donor splice site in two siblings with Leber congenital amaurosis.

2 mechanisms and potential therapies for human Leber congenital amaurosis.

3 in rpe65-/- knockout mice and in humans with Leber congenital amaurosis.

4 e cause a blinding disease of infancy called Leber congenital amaurosis.

5 Mutations in RPGRIP1 cause Leber congenital amaurosis.

6 diseases including retinitis pigmentosa and Leber congenital amaurosis.

7 the eye disorders, retinitis pigmentosa and Leber congenital amaurosis.

8 l phenotypes, while those in RPGRIP1 lead to Leber congenital amaurosis.

9 were found to lead to the retinal dystrophy, Leber congenital amaurosis.

10 nsecutive patients carrying the diagnosis of Leber congenital amaurosis.

11 cessive human retinal degenerations known as Leber congenital amaurosis.

12 otypes, mainly in the diagnostic category of Leber congenital amaurosis.

13 dominant cone-rod dystrophy and with de novo Leber congenital amaurosis.

14 autosomal dominant retinitis pigmentosa and Leber congenital amaurosis.

15 diseases, including retinitis pigmentosa and Leber congenital amaurosis.

16 Two patients (5.1%) had Leber congenital amaurosis.

17 nogram responses, a phenotype that resembles Leber congenital amaurosis.

18 ssociated with loss of enzymatic function in Leber congenital amaurosis.

19 variant has been described in 1 patient with Leber congenital amaurosis.

20 cause retinal degeneration in some forms of Leber congenital amaurosis.

21 nfantile onset retinal dystrophy, similar to Leber congenital amaurosis.

22 lecular mechanism of the childhood blindness Leber congenital amaurosis.

23 Leber congenital amaurosis 1 (LCA1), caused by mutations

24 therapy vector for the clinical treatment of Leber congenital amaurosis-1.

25 emonstrate an RPE65 mutation correction in a Leber congenital amaurosis 2 (LCA2) patient-specific iPS

26 o patients with the most severe phenotype of Leber congenital amaurosis, 7 patients with biallelic GU

27 ies with cone/cone-rod dystrophy, 22.2% with Leber congenital amaurosis, 7.4% with early-onset retini

28 Leber congenital amaurosis 9 (LCA9) is an autosomal rece

29 These conditions range from Leber congenital amaurosis (a severe cone and rod degene

30 utations in RPGRIP1 have been shown to cause Leber congenital amaurosis, a group of retinal dystrophi

31 Mutations in AIPL1 cause Leber congenital amaurosis, a severe early-onset retinop

32 ions in the NMNAT1 gene were associated with Leber congenital amaurosis, a severe retinal degenerativ

33 A locus (LCA3) for Leber congenital amaurosis, a severe, early-onset form o

34 giant axonal neuropathy), ocular disorders (Leber congenital amaurosis, age-related macular degenera

35 However, mutations within the gene lead to Leber Congenital Amaurosis and autosomal recessive retin

36 Defects in the cilia gene RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in hum

37 CRB1) gene is mutated in autosomal recessive Leber congenital amaurosis and early-onset retinitis pig

38 the disease spectrum of TULP1 mutations from Leber congenital amaurosis and early-onset retinitis pig

39 ant AIPL1 proteins triggers a severe form of Leber congenital amaurosis and leads to blindness.

40 d to be mutated in a subset of patients with Leber congenital amaurosis and macular atrophy.

41 drome, a ciliopathy that is characterized by Leber congenital amaurosis and nephronophthisis.

42 amilies with retinal degeneration, including Leber congenital amaurosis and Oliver McFarlane syndrome

43 y by 30-40% in the Rpe65(-/-) mouse model of Leber congenital amaurosis and reduced the number of TUN

44 nts with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs characteriz

45 rious blinding conditions in humans, such as Leber congenital amaurosis and retinitis pigmentosa (RP)

46 mprove visual function in some patients with Leber congenital amaurosis and RPE65 and LRAT mutations.

47 we enrolled patients (aged >/=6 years) with Leber congenital amaurosis and RPE65 or LRAT mutations a

48 of retinitis pigmentosa collectively termed Leber congenital amaurosis and segregates naturally in t

49 /- mice are comparable models for studies of Leber congenital amaurosis and that the destructive cone

50 s, evaluating potential therapies for NMNAT1-Leber congenital amaurosis, and conducting in situ studi

51 cent of CEP290 intronic mutations that cause Leber congenital amaurosis, and we speculate that reduce

52 One-fifth of all cases of Leber congenital amaurosis are type 1 (LCA1).

53 e diseases, such as retinitis pigmentosa and Leber congenital amaurosis, are a leading cause of untre

54 Leber congenital amaurosis associated with GUCY2D caused

55 treated with Luxturna((R)) for RPE65-related Leber congenital amaurosis before and after therapy.

56 RetGC1, and mutations in that region causing Leber congenital amaurosis blindness disrupt activation

57 thway function in an Rpe65-/- mouse model of Leber congenital amaurosis but does not protect from con

58 n recovering vision in humans diagnosed with Leber congenital amaurosis caused by mutations in the RP

59 Leber congenital amaurosis, caused by mutations in RPE65

60 ciated with receiving keratoplasty including Leber congenital amaurosis, depression, and diabetes.

61 Leber congenital amaurosis due to CEP290 ciliopathy is b

62 Mutations associated with Leber congenital amaurosis/early-onset blindness cause p

63 We surveyed 57 unrelated patients who had Leber congenital amaurosis for mutations in RPGRIP1 and

64 The Rpe65-/- mouse, used as a model for Leber congenital amaurosis, has slow rod degeneration an

65 ients treated with subretinal injections for Leber congenital amaurosis have been mixed.

66 Rpe65-deficient mice, a model of Leber congenital amaurosis, have no rod photopigment and

67 mily (E168 [delta1 bp] mutation) and simplex Leber congenital amaurosis in two families (E168 [delta2

68 zygous for this null allele is affected with Leber congenital amaurosis, it was surprising that her f

69 Leber congenital amaurosis (LCA) and juvenile retinitis

70 Leber congenital amaurosis (LCA) and juvenile retinitis

71 but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the

72 ted with retinal degeneration, most commonly Leber congenital amaurosis (LCA) and retinitis pigmentos

73 3 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoret

74 ine outcome measures for a clinical trial of Leber congenital amaurosis (LCA) associated with mutatio

75 Leber congenital amaurosis (LCA) associated with retinal

76 homolog 1 (CRB1) is responsible for >10% of Leber congenital amaurosis (LCA) cases worldwide; LCA is

77 method in healthy subjects and patients with Leber congenital amaurosis (LCA) caused by mutations in

78 Leber congenital amaurosis (LCA) caused by mutations in

79 Leber congenital amaurosis (LCA) describes a more severe

80 Leber congenital amaurosis (LCA) encompasses a set of ea

81 genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish populati

82 this question in an Lrat(-/-) mouse model of Leber congenital amaurosis (LCA) in which retinal light

83 Leber congenital amaurosis (LCA) is a hereditary early-o

84 Leber congenital amaurosis (LCA) is a neurodegenerative

85 Leber congenital amaurosis (LCA) is a rare degenerative

86 Leber congenital amaurosis (LCA) is a severe disorder re

87 Leber congenital amaurosis (LCA) is an autosomal recessi

88 Leber congenital amaurosis (LCA) is an early-onset inher

89 Leber congenital amaurosis (LCA) is an infantile-onset f

90 Leber congenital amaurosis (LCA) is an inherited retinal

91 Gene therapy for Leber congenital amaurosis (LCA) is becoming available,

92 Leber congenital amaurosis (LCA) is the most common caus

93 Leber congenital amaurosis (LCA) is the most severe inhe

94 Leber congenital amaurosis (LCA) patients (n = 10) and o

95 anging from the devastating blinding disease Leber congenital amaurosis (LCA) to Senior-Loken syndrom

96 ls (iPSC) of rd16 mouse, which is a model of Leber congenital amaurosis (LCA) type 10 caused by mutat

97 l capacity than is typically associated with Leber congenital amaurosis (LCA) type I, with a number o

98 6 patients with retinitis pigmentosa (RP) or Leber congenital amaurosis (LCA) using melting curve ana

99 l isomerase RPE65-deficient mice [a model of Leber congenital amaurosis (LCA) with rapid cone loss] a

100 g protein-like 1 (Aipl1) are associated with Leber congenital amaurosis (LCA), a childhood blinding d

101 mes, whereas hypomorphic mutations result in Leber congenital amaurosis (LCA), a form of early-onset

102 distinct clinical manifestations, including Leber congenital amaurosis (LCA), a hereditary cause of

103 Leber congenital amaurosis (LCA), a severe autosomal rec

104 Mutations in the gene coding for AIPL1 cause Leber congenital amaurosis (LCA), a severe form of child

105 Loss of RPGRIP causes Leber congenital amaurosis (LCA), a severe form of photo

106 ) disrupt 11-cis-retinal synthesis and cause Leber congenital amaurosis (LCA), a severe hereditary bl

107 n:retinol acyltransferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impair

108 chromophore ligand 11-cis-retinal and cause Leber congenital amaurosis (LCA), a severe, early-onset

109 AIPL1) gene have been found in patients with Leber congenital amaurosis (LCA), a severe, early-onset

110 conditions such as retinitis pigmentosa and Leber congenital amaurosis (LCA), affects approximately

111 by severe childhood onset retinal blindness, Leber congenital amaurosis (LCA), and renal disease.

112 cells included Bardet Biedl syndrome (BBS), Leber congenital amaurosis (LCA), and retinitis pigmento

113 te in chromophore-deficient mouse models for Leber Congenital Amaurosis (LCA), but exogenous suppleme

114 ons, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), comprise a group of di

115 ing protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pig

116 PL1) are associated with autosomal recessive Leber congenital amaurosis (LCA), the most severe form o

117 ) disrupt 11-cis-retinal recycling and cause Leber congenital amaurosis (LCA), the most severe retina

118 refs 3, 4, 5), retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), which all lead to loss

119 cycle is naturally disrupted in humans with Leber congenital amaurosis (LCA), which is caused by mut

120 ed in the GUCY1*B chicken and in humans with Leber congenital amaurosis (LCA)-1.

121 ) disrupt 11-cis-retinal synthesis and cause Leber congenital amaurosis (LCA).

122 tosa (adRP) and are a rare cause of dominant Leber congenital amaurosis (LCA).

123 ular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA).

124 ycle, cause the childhood blindness known as Leber congenital amaurosis (LCA).

125 ration in retinitis pigmentosa 12 (RP12) and Leber congenital amaurosis (LCA).

126 ost clinically severe retinal degenerations, Leber congenital amaurosis (LCA).

127 one-rod dystrophy (CORD) as well as dominant Leber congenital amaurosis (LCA).

128 nts with isolate RP, and in 45 patients with Leber congenital amaurosis (LCA).

129 rug Administration to treat RPE65-associated Leber congenital amaurosis (LCA).

130 ients with severe childhood blindness due to Leber congenital amaurosis (LCA).

131 Many mutations in RPE65 are associated with Leber congenital amaurosis (LCA).

132 been previously shown to cause non-syndromic Leber congenital amaurosis (LCA).

133 n the Rpe65 R91W knockin (KI) mouse model of Leber congenital amaurosis (LCA).

134 ithin-retinol acyltransferase (LRAT) lead to Leber congenital amaurosis (LCA).

135 ent with a severe form of retinal dystrophy, Leber congenital amaurosis (LCA).

136 the most common form of childhood blindness, Leber congenital amaurosis (LCA).

137 cause a congenital human blindness known as Leber congenital amaurosis (LCA).

138 Sixty-nine individuals (88%) had Leber congenital amaurosis (LCA)/early-onset severe reti

139 Leber congenital amaurosis (LCA, MIM 204000) accounts fo

140 94%), cone-rod dystrophy (CORD; 10.94%), and Leber congenital amaurosis (LCA; 3.12%).

141 ity by 30-40% in a Rpe65(-/-) mouse model of Lebers congenital amaurosis (LCA) and in a Cpfl1 mouse w

142 in young patients with congenital blindness (Leber congenital amaurosis [LCA] or retinitis pigmentosa

143 riants of the KCNJ13 gene are known to cause Leber congenital amaurosis (LCA16), an inherited pediatr

144 Leber congenital amaurosis (LCA4) has been linked to mut

145 uman LCA5 cDNA (OPGx-001) in LCA5-associated Leber congenital amaurosis (LCA5-LCA), a congenital blin

146 orneal hydrops (OR 4.87 [95% CI 4.07-5.82]), Leber congenital amaurosis (OR 2.41 [95% CI 1.02-5.71]),

147 is pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, or a related disease.

148 eening of LPCAT1 in retinitis pigmentosa and Leber congenital amaurosis patients did not reveal any o

149 h genetic isolate (GI), and 5 patients had a Leber congenital amaurosis phenotype.

150 homology domain, W708R and I734T, linked to Leber congenital amaurosis prevented binding of both GCA

151 Herein, we suggest a model for INPP5E-Leber congenital amaurosis, proposing how deletion of IN

152 apy in this large animal ciliopathy model of Leber congenital amaurosis provides a path for translati

153 ness caused by mutations in NPHP5, a form of Leber congenital amaurosis, results in abnormal developm

154 ients with age-related macular degeneration, Leber congenital amaurosis, retinitis pigmentosa, and co

155 were siblings, had histories consistent with Leber congenital amaurosis (severely reduced vision, poo

156 al hearing loss, intellectual disability and Leber congenital amaurosis (SHILCA), as well as some bra

157 quent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its h

158 progressing rod-cone degeneration resembling Leber congenital amaurosis that is nearly completed by p

159 Mutations of RPE65 are associated with Leber congenital amaurosis that results in rod and cone

160 degenerating retina of two genetic models of Leber congenital amaurosis, the Crb1(rd8/rd8) and Gucy2e

161 at(-/-) and Rpe65(-/-) mice, models of human Leber congenital amaurosis, the retinoid cycle is disrup

162 are clinically heterogeneous and present as Leber Congenital Amaurosis, the severest form of early-o

163 s of function alleles of CRX appear to cause Leber congenital amaurosis through a recessive or multig

164 ases ranging from severe autosomal recessive Leber congenital amaurosis to later onset retinitis pigm

165 eterogenic spectrum of CRX-RDs, ranging from Leber congenital amaurosis to mild late-onset maculopath

166 ort further analysis of this animal model of Leber congenital amaurosis type 1 (LCA1), a disease that

167 Mutations in GUCY2D cause Leber congenital amaurosis type 1 (LCA1), an autosomal r

168 CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal

169 Leber congenital amaurosis type 10 is a severe retinal d

170 Leber congenital amaurosis type 16 (LCA16) is a rare ped

171 tations are linked to the congenital disease Leber congenital amaurosis Type 2 (LCA2) characterized b

172 (3-year) follow-up of 5 patients affected by Leber congenital amaurosis type 2 (LCA2) treated with a

173 hought to destabilize PDE6 and thereby cause Leber congenital amaurosis type 4 (LCA4), a severe form

174 cause a severe inherited retinal dystrophy, Leber congenital amaurosis type 4 (LCA4), that manifests

175 retinal pigment epithelium of patients with Leber congenital amaurosis was noted as one of the most

176 linked to the early-onset retinal dystrophy Leber congenital amaurosis, whereas RDH11 has not been a

177 Therefore, treatment of mouse models of Leber congenital amaurosis with 9-cis-BC and 9-cis-retin

178 lity of a reliable mammalian model of NMNAT1-Leber congenital amaurosis would assist in determining t