ライフサイエンスコーパス: optic atrophy

1 10 of those eyes; 7 of them had glaucomatous optic atrophy.

2 ion components as seen in Leber's hereditary optic atrophy.

3 as loss of retinal ganglion cells indicated optic atrophy.

4 autoimmune diabetes mellitus and progressive optic atrophy.

5 amilial juvenile-onset diabetes mellitus and optic atrophy.

6 venile-onset diabetes mellitus and bilateral optic atrophy.

7 51 with glaucoma and 76 with nonglaucomatous optic atrophy.

8 ary to apparently non-progressive congenital optic atrophy.

9 ive fashion a childhood onset neuropathy and optic atrophy.

10 eripapillary and macular regions, as well as optic atrophy.

11 on in GRN developed retinal degeneration and optic atrophy.

12 ral and inferior retinal regions, as well as optic atrophy.

13 onset spastic paraplegia, spinal lesion, and optic atrophy.

14 s include leukodystrophy, cardiomyopathy and optic atrophy.

15 implicated in a form of spastic ataxia with optic atrophy.

16 of axonal degeneration in CMT2A and dominant optic atrophy.

17 the most common cause of autosomal dominant optic atrophy.

18 performed in isolated, sporadic, or familial optic atrophies.

19 Synergistically, optic atrophy 1 (Opa1) also regulates CoMIC via controll

20 the role of the mitochondrial fusion protein optic atrophy 1 (OPA1) in differentiated skeletal muscle

21 encing the inner membrane-associated dynamin optic atrophy 1 (OPA1) in fission deficiency prevented m

22 The protein optic atrophy 1 (OPA1) is a dynamin-related protein asso

23 unidentified C-terminal fragments (CTFs) of Optic atrophy 1 (Opa1), a mitochondrial GTPase that regu

24 al fusion, controlled by Mitofusin (mfn) and Optic atrophy 1 (opa1), and mitochondrial fission, contr

25 suppressed in cells lacking mitofusin 1 and optic atrophy 1 (OPA1), the key proteins for mitochondri

26 uing that MFN2 shows functional overlap with optic atrophy 1 (OPA1), the protein underlying the most

27 elated protein 1 (Drp1), mitofusion 1/2, and optic atrophy 1 (OPA1).

28 fn1 (mitofusin 1), Mfn2 (mitofusin 2), Opa1 (optic atrophy 1) and Tomm40.

29 d expression of the pro-fusion protein OPA1 (optic atrophy 1) increased, whereas expression of the pr

30 and altered proteolytic processing of OPA1 (optic atrophy 1).

31 ltered mitochondrial activity, cleavage of L-optic atrophy 1, and mitochondrial fragmentation.

32 y absent in flies lacking the fusion protein optic atrophy 1.

33 ive stress induces an N-terminal cleavage of optic atrophy-1 (OPA1), a dynamin-like GTPase that regul

34 visual acuity (41%), exophthalmia (16%), and optic atrophy (15%) for children with an intracranial tu

35 elderly patients, while albinism (24.4%) and optic atrophy (24.4%) were the commonest in children.

36 yndrome, which is caused by mutations in the OPTIC ATROPHY 3 (OPA3) gene, is an early-onset syndrome

37 coma) and 21 of 70 eyes with nonglaucomatous optic atrophy (30%) (5 optic neuritis, 11 anterior visua

38 7%), refractive error and amblyopia (12.1%), optic atrophy (6.4%), phthisis bulbi (6.4%), aphakia (5.

39 s (8/12 [67%]), strabismus (5/12 [42%]), and optic atrophy (6/12 [50%]).

40 A1 gene are the prevailing cause of dominant optic atrophy, a hereditary disease in which progressive

41 OPA1 is mutated in dominant optic atrophy, a neurodegenerative disease of the optic

42 ion is the cause of human autosomal dominant optic atrophy (ADOA) and Charcot-Marie-Tooth syndrome ty

43 tic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial

44 Autosomal dominant optic atrophy (ADOA) is the most prevalent hereditary op

45 Autosomal dominant optic atrophy (ADOA), a form of progressive bilateral bl

46 -qter are associated with autosomal dominant optic atrophy (ADOA), the most common inherited optic ne

47 iagnosing and phenotyping autosomal-dominant optic atrophy (ADOA).

48 The association of neuropathy and optic atrophy (also known as CMT type 6) has been descri

49 cessive condition characterized by infantile optic atrophy, an early onset movement disorder, and 3-m

50 pe 2A, a peripheral neuropathy, and dominant optic atrophy, an inherited optic neuropathy, result fro

51 tant role of mitochondrial function for both optic atrophies and peripheral neuropathies.

52 ases in humans: autosomal dominant inherited optic atrophy and cataract (ADOAC) and a metabolic condi

53 5A46 strengthens the genetic overlap between optic atrophy and CMT2 while exemplifying a new class of

54 By whole-exome sequencing of patients with optic atrophy and CMT2, we identified four families with

55 predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit.

56 diagnostic criteria for WFS2 also consist of optic atrophy and diabetes mellitus, but unlike WFS1, th

57 erative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associ

58 ry neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.

59 at deep intronic mutations in OPA1 can cause optic atrophy and explain disease in a substantial share

60 duced hair cell numbers, consistent with the optic atrophy and hearing impairment observed in human p

61 drome that consists of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal

62 pathway due to ischemia typically results in optic atrophy and loss of retinal ganglion cells.

63 is defined by juvenile diabetes mellitus and optic atrophy and may include progressive hearing loss a

64 excretion of 3-methylglutaconic acid (MGC), optic atrophy and movement disorders, including ataxia a

65 mainly characterized by spastic paraplegia, optic atrophy and neuropathy (SPOAN).

66 cted whole-exome sequencing of patients with optic atrophy and other neurological signs of mitochondr

67 strength of the lower limbs), hearing loss, optic atrophy and respiratory insufficiency.

68 cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventil

69 Severity of optic atrophy and RNFL loss varied between animals from

70 ix HMSN VI families with a subacute onset of optic atrophy and subsequent slow recovery of visual acu

71 Optic atrophy and vocal cord palsy were observed in pati

72 ies presented with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities on

73 OAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) became a commonly accepted

74 ized by insulin-dependent diabetes mellitus, optic atrophy, and deafness.

75 's hereditary optic neuropathy and Kjer-type optic atrophy, and disorders of ocular motility, such as

76 dividuals had an onset in early infancy with optic atrophy, and in four patients anemia was present a

77 g the most common form of autosomal dominant optic atrophy, and mitochondrial encoded oxidative phosp

78 mbination of early-onset spastic paraplegia, optic atrophy, and neuropathy.

79 order characterized by diabetes mellitus and optic atrophy, and often, deafness.

80 tion, hypotonia, sensorineural hearing loss, optic atrophy, and other features.

81 evelopmental delay, poor visual contact with optic atrophy, and postnatal microcephaly.

82 escribes monozygotic male twins with ptosis, optic atrophy, and recent-onset intractable myoclonic ep

83 variety of eye diseases including glaucoma, optic atrophy, and retinal degeneration--defects in mito

84 udes attenuation of the retinal vasculature, optic atrophy, and retinal pigment epithelium loss.

85 al delay, intellectual disability, seizures, optic atrophy, and spastic quadriplegia.

86 tinal vessel attenuation, pigment spots, and optic atrophy appeared in the fundus at 4 weeks of age.

87 may contribute to RGC neurodegeneration and optic atrophy are tackled in an integrated way, consider

88 t-Marie-Tooth type 2A and autosomal dominant optic atrophy, are caused by mutations in mitofusin 2 an

89 (15%) with autosomal recessive nonsyndromic optic atrophy (arNSOA) and in 8 patients with autosomal

90 reatment has resulted in amblyopia replacing optic atrophy as the main cause of visual impairment in

91 loss, progressive hearing loss, and isolated optic atrophy associated with hearing loss.

92 t neurodegenerative disease with progressive optic atrophy, ataxia, and myopathy.

93 il and cranial nerve abnormalities, frequent optic atrophy, autonomic neuropathy and upper and lower

94 pe of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardi

95 ge consanguineous family with neuropathy and optic atrophy carrying a loss of function mutation in th

96 yses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and inconti

97 m Syndrome 2 (WFS2) resulting in early onset optic atrophy, diabetes mellitus, deafness and decreased

98 GTPase OPA1 is mutated in autosomal dominant optic atrophy (DOA) (Kjer type), an inherited neuropathy

99 lled 49 patients with LHON, 19 with Dominant Optic Atrophy (DOA) and 22 healthy controls.

100 Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Ch

101 majority of patients with autosomal dominant optic atrophy (DOA) harbor pathogenic OPA1 mutations and

102 Autosomal dominant optic atrophy (DOA) is a retinal neuronal degenerative d

103 Dominant optic atrophy (DOA) is the commonest form of inherited o

104 Autosomal dominant optic atrophy (DOA) is the most common form of hereditar

105 sual and pupil afferent function in dominant optic atrophy (DOA).

106 ary retinopathy) and 6 of 76 nonglaucomatous optic atrophy eyes (7.9%) (1 retinal vasculitis, 3 papil

107 unmasking of the large choroidal vessels and optic atrophy; fluorescein angiography revealed gradual

108 Opa1(+/-) mouse model of autosomal dominant optic atrophy from as early as 10 months of age.

109 d was over four times higher in the dominant optic atrophy + group compared to the pure optic neuropa

110 MT) neuropathy with visual impairment due to optic atrophy has been designated as hereditary motor an

111 hthalmological assessment revealed bilateral optic atrophy in both patients.

112 e disorder presented with visual failure and optic atrophy in childhood, followed by PEO, ataxia, dea

113 in FDXR cause a novel mitochondriopathy and optic atrophy in humans.

114 p11.21 in three large families with isolated optic atrophy, including the two families that defined t

115 rons, and it also suppressed visual loss and optic atrophy induced by a mutant ND4 homolog.

116 Dominant optic atrophy is a blinding disease due to the degenerat

117 Early onset bilateral optic atrophy is a common characteristic of both disorde

118 The gene responsible for dominant optic atrophy is the OPA1 gene located on chromosome 3.

119 order characterized by diabetes mellitus and optic atrophy, is caused by mutations in the WFS1 gene e

120 pathophysiology of RGC neurodegeneration and optic atrophy, is key to broadly understanding the patho

121 guanosine triphosphatase mutated in dominant optic atrophy, is required for the fusion of mitochondri

122 1(Q285STOP), which models autosomal dominant optic atrophy, leads to a 50% reduction in Opa1 transcri

123 In contrast to mutations causing non-lethal optic atrophy, missense mutations causing lethal congeni

124 (LHON) was produced by introducing the human optic atrophy mtDNA ND6 P25L mutation into the mouse.

125 tions have been linked to seizures, strokes, optic atrophy, neuropathy, myopathy, cardiomyopathy, sen

126 ndrial assembly regulatory factor (MARF) and optic atrophy (Opa)1.

127 ormal, although optic nerve alterations like optic atrophy or papilledema have been described.

128 th weight, gestational age, acute-phase ROP, optic atrophy, or retinal residua of ROP, but was relate

129 e, schizophrenia, epilepsy, cancer, dominant optic atrophy, osteoporosis, and Down's syndrome.

130 cephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare Mendelian phenot

131 ephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an early childhood onse

132 Iraqi-Jewish optic atrophy plus is an autosomal recessive condition c

133 Individuals with dominant optic atrophy plus phenotypes also had significantly wor

134 1 modifier variant explains the emergence of optic atrophy plus phenotypes if combined in trans with

135 ients identified a second family with severe optic atrophy plus syndrome due to compound heterozygous

136 -depth investigation of a family with severe optic atrophy plus syndrome in which conventional OPA1 d

137 , which explains the emergence of syndromic 'optic atrophy plus' phenotypes in several families.

138 , the frequency of these syndromal 'dominant optic atrophy plus' variants and the extent of neurologi

139 n electron micrographs were used to evaluate optic atrophy postmortem.

140 f an autosomal-recessive spastic ataxia with optic atrophy, present among the Old Order Amish, identi

141 with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growt

142 with calcification, cataracts, microcornea, optic atrophy, progressive joint contractures, and growt

143 s not cause processing of the fusion protein optic atrophy protein 1 (Opa1), despite inducing a decre

144 >C can also cause the unusual combination of optic atrophy, ptosis, and encephalomyopathy leading to

145 Normal tension glaucoma and dominant optic atrophy share many overlapping clinical features,

146 mitochondrial protein recently implicated in optic atrophy spectrum disorder.

147 to rare syndromic multisystem diseases with optic atrophy such as mitochondrial encephalomyopathies,

148 ations in OPA3 have been reported in Costeff optic atrophy syndrome.

149 e more frequent in pediatric nonglaucomatous optic atrophy than glaucoma; they are associated with wo

150 The gene mutated in DOA, Optic Atrophy Type 1 (OPA1), encodes a dynamin-related G

151 Optic atrophy, vocal cord palsy, and auditory impairment

152 Investigation of optic atrophy was initiated only after genetic analysis,

153 dren with either glaucoma or nonglaucomatous optic atrophy were retrospectively reviewed.

154 iatal cholinergic interneuron loss; and (iv) optic atrophy with delamination of the lateral geniculat

155 tient had steroid-responsive vision loss and optic atrophy with inflammatory cerebrospinal fluid.

156 l system and that its disruption can lead to optic atrophy with intellectual disability.

157 ns in OPA3 should be sought in patients with optic atrophy with later onset, even in the absence of a