ライフサイエンスコーパス: retinal degeneration

1 on products in Mertk(-/-) mouse RPE prior to retinal degeneration.

2 therapeutic strategies at earlier stages of retinal degeneration.

3 ifferences, including distinct mechanisms of retinal degeneration.

4 t a retinoid-independent mechanism underlies retinal degeneration.

5 functional in the retina and thus prevented retinal degeneration.

6 igmentosa (XLRP) and 15-20% of all inherited retinal degeneration.

7 n many neurodegenerative diseases, including retinal degeneration.

8 ity and some vision to mice blind from outer retinal degeneration.

9 linical trial for the treatment of inherited retinal degeneration.

10 ons for patients with debilitating inherited retinal degeneration.

11 f this gene results in a severe, early-onset retinal degeneration.

12 tion triggers a dominant form of progressive retinal degeneration.

13 restoration of sight in patients blinded by retinal degeneration.

14 visual function in a mouse model of advanced retinal degeneration.

15 is gene can also lead to an isolated form of retinal degeneration.

16 lammation, vitreous and retinal fibrosis and retinal degeneration.

17 wild-type C57BL/6J mice without discernible retinal degeneration.

18 ne are a common cause of autosomal recessive retinal degeneration.

19 d-type (WT) activity, causes relatively mild retinal degeneration.

20 r atRAL via Schiff base formation ameliorate retinal degeneration.

21 SPP2 has a new role in retinal degeneration.

22 tion between pesticide use and self-reported retinal degeneration.

23 s the first strain of mice identified with a retinal degeneration.

24 actuator for treating patients with advanced retinal degeneration.

25 play an important role in protecting against retinal degeneration.

26 tivity and RGC morphology at early stages of retinal degeneration.

27 e to NPHP with cerebellar vermis aplasia and retinal degeneration.

28 capitulated the human phenotypes of NPHP and retinal degeneration.

29 e neurodevelopmental abnormalities and neuro-retinal degeneration.

30 the underlying cause of recessive inherited retinal degeneration.

31 hereditary genetic disease causing bilateral retinal degeneration.

32 gos28 lead to defective Rh1 trafficking and retinal degeneration.

33 is a potential therapeutic molecule against retinal degeneration.

34 agittally oriented discs before the onset of retinal degeneration.

35 ness, vestibular arreflexia, and progressive retinal degeneration.

36 in rods led to shortened outer segments and retinal degeneration.

37 nization of RPE cells, ultimately leading to retinal degeneration.

38 retinitis pigmentosa in humans, an inherited retinal degeneration.

39 viability in rat models of ER stress-induced retinal degeneration.

40 rt demonstrating the involvement of IFT43 in retinal degeneration.

41 sequence of light-induced events leading to retinal degeneration.

42 rom PHARC syndrome to a nonsyndromic form of retinal degeneration.

43 erautofluorescence suggestive of progressive retinal degeneration.

44 artial misalignment of discs and progressive retinal degeneration.

45 ccumulation of autofluorescent particles and retinal degeneration.

46 tophagy in the pathogenesis of light-induced retinal degeneration.

47 s (EK) mice displayed a delayed-onset milder retinal degeneration.

48 creased breakage, ultimately contributing to retinal degeneration.

49 om the ABCA4(-/-) mouse model of Stargardt's retinal degeneration.

50 148, was previously reported as resulting in retinal degeneration.

51 e periodically reevaluated for delayed-onset retinal degeneration.

52 nd robust neural dysfunction, which includes retinal degeneration.

53 death signal in a transgenic mouse model of retinal degeneration.

54 Park2(-/-) mice also displayed light-induced retinal degeneration.

55 vestigate the pathogenesis of RP2-associated retinal degeneration.

56 th retinitis pigmentosa, a frequent cause of retinal degeneration.

57 ts explain the likely cause of PD-associated retinal degeneration.

58 pharmacological approaches attenuated mouse retinal degeneration.

59 have an early onset (6 weeks) of spontaneous retinal degeneration.

60 vant for future stem cell therapy to restore retinal degeneration.

61 may augment pathogenic processes, leading to retinal degeneration.

62 gy and have identified pathways that lead to retinal degeneration.

63 litude as the primary defect and progressive retinal degeneration.

64 retina, leading to Muller cell depletion and retinal degeneration.

65 t deficits in cilium formation, which led to retinal degeneration.

66 as their ligands, were elevated in mice with retinal degeneration.

67 clinically beneficial for patients with this retinal degeneration.

68 dult rods may represent a unique therapy for retinal degeneration.

69 e same time point, rd1 mice had severe outer retinal degeneration.

70 ization as a potential therapeutic target in retinal degeneration.

71 tier gene for screening isolated males with retinal degeneration.

72 estigation may have benefit even in advanced retinal degeneration.

73 ng many environmental and heritable forms of retinal degeneration.

74 re associated with a spectrum of progressive retinal degeneration.

75 t exposure, and Fam161a-associated inherited retinal degeneration.

76 reby restoring vision in patients blinded by retinal degeneration.

77 tic features of CLN3-associated nonsyndromic retinal degeneration.

78 P6 in mice (Reep6-/-) results in progressive retinal degeneration.

79 or vision restoration in patients blinded by retinal degeneration.

80 in the retina is a therapeutic strategy for retinal degeneration.

81 rocess in the P23H-1 transgenic rat model of retinal degeneration.

82 as a therapeutic agent for treating ischemic retinal degeneration.

83 on of foveal vision in eyes with MAK-related retinal degeneration.

84 in the retina is a therapeutic strategy for retinal degeneration.

85 apeutic retinoid that prevents light-induced retinal degeneration.

86 is neuroprotective against pressure mediated retinal degeneration.

87 he first 6 wk of life, as a model for severe retinal degeneration.

88 tinal protein and potent cause of autoimmune retinal degeneration.

89 d BBS-related phenotypes as well as isolated retinal degeneration.

90 result of retinitis pigmentosa (RP) or outer retinal degeneration.

91 y have potential as a strategy for reversing retinal degeneration.

92 ch into the role that these pathways play in retinal degeneration.

93 ial future treatment for blindness caused by retinal degeneration.

94 aturally occurring chicken mutation leads to retinal degeneration.

95 ealed clues to the causes of the progressive retinal degenerations.

96 s it has been speculated to be in hereditary retinal degenerations.

97 toreceptor turnover, thereby contributing to retinal degenerations.

98 thesis and electrostimulation to treat outer retinal degenerations.

99 singly found to cause nonsyndromic inherited retinal degenerations.

100 and reveal potential therapeutic targets for retinal degenerations.

101 fied in patients with nonsyndromic inherited retinal degenerations.

102 These eye diseases are retinal degeneration 1 (Pde6b(rd1)), retinal degeneratio

103 PDE6alpha' in the photoreceptor cells of the retinal degeneration 10 (rd10) mouse that carries a muta

104 homolog of the human retinal dystrophy gene Retinal Degeneration 3 (RD3) is a Golgi-associated prote

105 We reported earlier that retinal degeneration 3 (RD3) protein interacts with GC1

106 Retinal degeneration 3 (RD3) protein, essential for norm

107 for another photoreceptor-specific protein, retinal degeneration 3 (RD3).

108 makes RetGC1 less sensitive to inhibition by retinal degeneration-3 protein (RD3).

109 ses are retinal degeneration 1 (Pde6b(rd1)), retinal degeneration 8 (Crb1(rd8)), and cone photorecept

110 y analysis revealed that dCRY interacts with Retinal Degeneration A (RDGA) and with Neither Inactivat

111 1 in mature postmitotic rods leads to robust retinal degeneration accompanied by loss of visual funct

112 This novel mouse model displayed severe retinal degeneration affecting rhodopsin's stabilization

113 Blindness due to retinal degeneration affects millions of people worldwid

114 ion in patients who are blind from end-stage retinal degenerations aim to render remaining retinal ce

115 /-) mice, which mimic many features of human retinal degeneration, allowed us to determine the sequen

116 2 (Chlamydomonas)] that underlie an isolated retinal degeneration and Bardet-Biedl syndrome.

117 hodopsin disrupt this transport, and lead to retinal degeneration and blindness in human patients and

118 RRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50

119 Mutations in the rhodopsin gene cause retinal degeneration and clinical phenotypes including r

120 endoplasmic reticulum stress, apoptosis and retinal degeneration and development.

121 relatively early onset (by 3 months of age) retinal degeneration and dysfunction when compared with

122 diseases, is a genetic condition that causes retinal degeneration and eventual vision loss.

123 tained from 35 adult patients with inherited retinal degeneration and fibroblast lines were establish

124 c.100 G > A change in IFT43 segregating with retinal degeneration and not present in ethnicity-matche

125 ibling pair with a mutation in GRN developed retinal degeneration and optic atrophy.

126 a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterior

127 roteins are expressed in different models of retinal degeneration and required in the Rd1 photorecept

128 n but lacks the AP-2 binding motif, prevents retinal degeneration and rescues visual function in K296

129 a platform to investigate the mechanisms of retinal degeneration and screen for neuroprotective comp

130 that aerobic exercise is neuroprotective for retinal degeneration and that this effect is mediated by

131 d with early onset non-syndromic progressive retinal degeneration and the presence of bone spicules d

132 (Ca(2+)) in rod photoreceptors are linked to retinal degeneration and visual disorders such as retini

133 Retinal degeneration and visual impairment are the first

134 llary light reflexes, phenotypic presence of retinal degeneration, and a non-recordable electroretino

135 tective in age-related as well as AD-related retinal degeneration, and may be a result of alterations

136 cells to identify how CEP290 mutations cause retinal degeneration, and show an antisense approach can

137 , presenting symptoms including renal cysts, retinal degeneration, and situs inversus [7-9].

138 understand these mild forms of RPE65-related retinal degeneration, and their effect on cone photorece

139 mounting that achromatopsia is a progressive retinal degeneration, and treatments for this condition

140 se is used as a pre-clinical animal model of retinal degeneration, and we found it was also hyperopic

141 s a potent neuroprotective agent in multiple retinal degeneration animal models.

142 Cell-based therapies to treat retinal degeneration are now being tested in clinical tr

143 ular mechanisms of how these mutations cause retinal degeneration are still unclear.

144 reases in BiP and to a lesser degree Chop in retinal degenerations arising from diverse causes.

145 nlikely to be a primary mechanism underlying retinal degeneration as most LCA-associated NMNAT1 mutan

146 t not C-whirlin in the inner ear, and led to retinal degeneration as well as moderate to severe heari

147 tion as assessed using motor performance and retinal degeneration assays respectively.

148 r rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telan

149 n-frame deletions frequently caused dominant retinal degeneration associated with rhodopsin biosynthe

150 r genetic findings in nonsyndromic inherited retinal degenerations associated with CLN3 mutations.

151 Stargardt disease is a juvenile onset retinal degeneration, associated with elevated levels of

152 ow a range of clinical phenotypes, including retinal degeneration, brachydactyly, craniofacial abnorm

153 l ganglion cells to light in mouse models of retinal degeneration but do not recapitulate native reti

154 ation restores visual responses in end-stage retinal degeneration, but has also been assessed in non-

155 ative effects in animal models of stroke and retinal degeneration, but the underlying therapeutic mec

156 ially modulated by the rhodopsin phosphatase retinal degeneration C (RDGC).

157 ibility that vision loss caused by inherited retinal degeneration can be slowed or prevented.

158 The results of this study demonstrate that retinal degeneration can be stopped, even at late stages

159 Human retinal degeneration can cause blindness, and the lack o

160 Inherited retinal degenerations cause progressive loss of photorec

161 f rare genetic disorders, present often with retinal degeneration caused by protein transport defects

162 prove the efficacy of RPE65 gene therapy for retinal degeneration caused by RPE65 mutations.

163 the pathogenic mechanism of hearing loss and retinal degeneration caused by whirlin and espin mutatio

164 Inherited retinal degenerations, caused by mutations in over 100 i

165 To address the in vivo role of CCL3 in retinal degeneration, Ccl3(-/-)Abca4(-/-)Rdh8(-/-) mice

166 gmentosa (RP) is a genetically heterogeneous retinal degeneration characterized by photoreceptor deat

167 sing RBP4 (RBP4-Tg mice) develop progressive retinal degeneration, characterized by photoreceptor rib

168 amaurosis 9 (LCA9) is an autosomal recessive retinal degeneration condition caused by mutations in th

169 ing visual function using a rat model of the retinal degeneration condition retinitis pigmentosa.

170 However, retinal degeneration continued to progress unabated.

171 Progressive retinal degeneration could be observed in the mutant zeb

172 peptides and PEDF in the rd1 mouse model of retinal degeneration decreased the numbers of dying phot

173 eases including glaucoma, optic atrophy, and retinal degeneration--defects in mitochondrial function

174 Retinal degeneration describes a group of disorders whic

175 related Fragile X syndrome and PARP1-related retinal degeneration diseases.

176 t the hypothesis that RPGR mutations lead to retinal degeneration due to a dysregulation of the actin

177 Retinal degeneration/dysfunction has been described prev

178 In humans, CERKL mutations cause widespread retinal degeneration: early dysfunction and loss of rod

179 the outer nuclear layer, resulting in focal retinal degeneration, edema, and atrophy.

180 thological hyperactivity in a mouse model of retinal degeneration elevates rather than reduces motili

181 Hereditary retinal degenerations encompass a group of genetic disea

182 A nonrandom subset of pediatric retinal degenerations exhibit vitritis.

183 in photoreceptors of other mutant mice where retinal degeneration has been ascribed to protein mistar

184 ven though the pathobiology of the resulting retinal degeneration has been characterized in several a

185 merase are associated with distinct forms of retinal degeneration; however, the disease mechanisms fo

186 therapy shows promise for treating inherited retinal degenerations; however, relevant animal models a

187 d that flies exhibited pronounced neural and retinal degeneration, impaired movement, and early letha

188 lar cause of autosomal recessive early onset retinal degeneration in a consanguineous pedigree.

189 s achieved cellular and functional rescue of retinal degeneration in a mouse model of retinitis pigme

190 e cell differentiation and lamination led to retinal degeneration in Brg1-deficient retinae.

191 We investigated retinal degeneration in Cln3(Deltaex1-6) null mice, reve

192 rescues both the Rh1 trafficking defects and retinal degeneration in Drosophila gos28 mutants, demons

193 Rh homeostasis and the mechanisms underlying retinal degeneration in flies, and discuss possible link

194 ent epithelium (RPE) is the alleged cause of retinal degeneration in genetic blinding diseases (e.g.,

195 The ER stress response is involved in retinal degeneration in hT17M Rho mice.

196 genes that disrupt cGMP homeostasis leads to retinal degeneration in humans through mechanisms that a

197 peutic option for the treatment of end-stage retinal degeneration in humans.

198 ency of Ccl3 also attenuated the severity of retinal degeneration in Mertk(-/-) mice.

199 , and protection against acute light-induced retinal degeneration in mice.

200 rom 4HNE-mediated stress, and light mediated retinal degeneration in mice.

201 Although PR1 slows the progression of retinal degeneration in models of RP in vitro, in vivo a

202 valuated the consequences of gene therapy on retinal degeneration in patients with RPE65-LCA and its

203 in mutation Ter349Glu causes an early, rapid retinal degeneration in patients.

204 Our work identified the progression of retinal degeneration in RP2 knockout zebrafish, provided

205 ey, because loss of function mutations cause retinal degeneration in some forms of Leber congenital a

206 ove function in the short term but also slow retinal degeneration in the long term.

207 o find common biological pathways that cause retinal degeneration in various forms of RP, and identif

208 cause rhodopsin mislocalisation and eventual retinal degeneration in XLRP.Mutations in the Retinitis

209 Aiming to study the genetics of inherited retinal degenerations in the Israeli and Palestinian pop

210 photoresponse in the phototoxicity model of retinal degeneration, in which continuous exposure of ra

211 tinal degeneration slow/RDS, lead to various retinal degenerations including retinitis pigmentosa (RP

212 In a subset of inherited retinal degenerations (including cone, cone-rod, and mac

213 n childhood blindness in seven families with retinal degeneration, including Leber congenital amauros

214 /-)Rdh8(-/-) mice that display light-induced retinal degeneration indicates that 11-cis-retinal and d

215 Inherited retinal degenerations (IRDs) preferentially affecting co

216 rstanding phenotype-genotype correlations in retinal degeneration is a major challenge.

217 Prion disease-associated retinal degeneration is attributed to PrP-scrapie (PrP(S

218 Retinal degeneration is characterized by the progressive

219 roglia activation in the retina suggest that retinal degeneration is driven by a proinflammatory mech

220 Retinal degeneration is prominent in Parkinson's disease

221 Outer retinal degeneration is the leading cause of blindness i

222 tors are associated with the pathogenesis of retinal degeneration, it has yet to be determined how th

223 Late-onset retinal degeneration (L-ORD) is a rare autosomal dominan

224 PE65 and LRAT, is a severe form of inherited retinal degeneration leading to blindness.

225 itis pigmentosa (RP) is a group of inherited retinal degenerations leading to blindness due to photor

226 Retinal degeneration leads to progressive photoreceptor

227 potently protects retinas from light-induced retinal degeneration (LIRD), which is tightly coupled wi

228 Patients with retinal degeneration lose sight due to the gradual demis

229 he retina may represent a novel strategy for retinal degeneration management.

230 in the retina is a therapeutic strategy for retinal degeneration management.

231 ilar but the molecular mechanisms leading to retinal degeneration may differ.

232 This ATP-induced model of retinal degeneration may provide a valuable tool for dev

233 Studying vitritis in pediatric retinal degenerations may reveal whether inflammation ac

234 as observed in the widely used light-induced retinal degeneration model and corroborated in other mod

235 cell survival and preserve vision in murine retinal degeneration models.

236 ignaling affects cone viability in inherited retinal degeneration mouse models.

237 (wild-type larvae and adult control animals, retinal degeneration mutants, and light-induced photorec

238 sociated with extrarenal pathologies such as retinal degeneration, obesity, and intellectual disabili

239 The expression of PDE6C rescues retinal degeneration observed in rd1/rd1 rods.

240 in unfolding, a potential contributor to the retinal degeneration observed in this syndrome.

241 tant flies show no evidence of age-dependent retinal degeneration or cathepsin missorting.

242 with activated Wnt functionally rescued the retinal degeneration phenotype in rd10 mice, a model for

243 t NMNAT1 function and ultimately lead to the retinal degeneration phenotype, we performed detailed an

244 l loss-of-function allele mimic the isolated retinal degeneration phenotype.

245 recessive disorder characterized by obesity, retinal degeneration, polydactyly, hypogenitalism and re

246 formed for pediatric patients with suspected retinal degeneration presenting to a single examiner fro

247 The 195-amino-acid-long human Retinal Degeneration Protein 3 (RD3) is critical in the

248 Retinal degeneration (RD) compromises the light responsi

249 Patients (n = 38) with ABCA4-associated retinal degeneration (RD) or with retinitis pigmentosa (

250 Retinitis pigmentosa (RP) is an inherited retinal degeneration (RD) that leads to blindness for wh

251 ation mutants also exhibit light exacerbated retinal degeneration (RD).

252 eading to the loss of enzymatic function and retinal degeneration remain poorly understood.

253 diseases; however, the role of autophagy in retinal degeneration remains largely unknown.

254 nd efficacy trials studying individuals with retinal degeneration resulting from RPE65 mutations-init

255 eclines rapidly in parallel with progressive retinal degeneration, resulting in profound chorioretina

256 ANCE STATEMENT Loss of photoreceptors during retinal degeneration results in permanent visual impairm

257 o those seen in human MD patients, including retinal degeneration, retinal pigment epithlium (RPE) de

258 tral macular lesion of a patient with severe retinal degeneration showed extreme thinning, some prese

259 In Rd9 and Rpgr-cko mice, retinal degeneration showed inter-ocular symmetry.

260 y of a sibling pair with adult onset NCL and retinal degeneration showed linkage to the region of the

261 photoreceptor tetraspanin gene peripherin-2/retinal degeneration slow (PRPH2/RDS) cause both rod- an

262 The photoreceptor-specific glycoprotein retinal degeneration slow (RDS, also called PRPH2) is ne

263 Retinal degeneration slow (RDS/PRPH2) is critical for th

264 fic gene peripherin-2 (PRPH-2, also known as retinal degeneration slow/RDS) cause incurable retinal d

265 tions in peripherin 2 (PRPH2), also known as retinal degeneration slow/RDS, lead to various retinal d

266 Outer retinal degenerations such as retinitis pigmentosa can c

267 Hdac2(+)/(-) mice exhibit significantly less retinal degeneration than wild-type mice.

268 These mice exhibited early onset retinal degeneration that was associated with rhodopsin

269 itis pigmentosa (RP) is a group of inherited retinal degenerations that lead to progressive vision lo

270 and Retinitis Pigmentosa (RP) are inherited retinal degenerations that may be affected, in opposite

271 In three different mouse models of retinal degeneration, the treatment substantially improv

272 anifestations, including reduced vision with retinal degeneration, the underlying mechanism of which

273 s in the adult and suggest novel targets for retinal degeneration therapy.

274 ing transplantation into mice with end-stage retinal degeneration, these cells differentiated into ph

275 In rats with retinal degeneration, these photovoltaic arrays elicited

276 storing the vision of patients affected with retinal degeneration through some type of drug, gene or

277 For an inducible model of retinal degeneration to be useful, it must recapitulate

278 neration pedigree with early-onset recessive retinal degeneration to identify the causative mutation.

279 ive families with nephronophthisis (NPH) and retinal degeneration, two of the most common manifestati

280 /-)Rdh8(-/-) mice did in age-related chronic retinal degeneration under room light conditions.

281 uscin accumulation in their RPE cells but no retinal degeneration up to 12 months of age.

282 nopsin gene (OPN4) in the rd1 mouse model of retinal degeneration using an adeno-associated viral vec

283 describe the characteristics of MAK-related retinal degeneration using optical coherence tomography

284 al and morphological features of MNU-induced retinal degeneration using scotopic electroretinography

285 neurons in young mice confirmed age-related retinal degeneration was mitigated by BMT.

286 Retinal degeneration was not detected in CCL2(-/-)CX3CR1

287 The central retinal degeneration was similar to that of cblC deficie

288 Using mouse models of retinal degeneration, we demonstrated that antithyroid d

289 Using mouse models of retinal degeneration, we found that antithyroid treatmen

290 h are hallmarks of neurological diseases and retinal degenerations, we tested whether hUTCs contribut

291 tal of 214 simplex males with a diagnosis of retinal degeneration were collected for genetic analysis

292 A large number of genes can cause inherited retinal degenerations when mutated.

293 he critical visual cycle protein LRAT slowed retinal degeneration, whereas blocking phototransduction

294 assays indicated the presence of progressive retinal degeneration with a cone predominately affected

295 tinal degeneration slow/RDS) cause incurable retinal degeneration with a high degree of phenotypic va

296 tor cells, results in severe and progressive retinal degeneration with concomitant loss of retinal fu

297 increase in survival, prevented the onset of retinal degeneration with reduced oxidative stress and a

298 Congenital Zika syndrome showed a central retinal degeneration with severe GCL loss, borderline in

299 zygous E150K (KK) mice exhibited early-onset retinal degeneration, with disorganized ROS structures,

300 es FTLD-related behavioral abnormalities and retinal degeneration without improving lipofuscin, C1q,