ライフサイエンスコーパス: Usher

1 Usher syndrome (USH) encompasses a group of disorders ch

2 Usher syndrome (USH) is a genetically heterogeneous dise

3 Usher syndrome (USH) is a genetically heterogeneous grou

4 Usher syndrome (USH) is a human hereditary disorder char

5 Usher syndrome (USH) is the leading cause of combined de

6 Usher syndrome (USH) is the leading cause of inherited d

7 Usher syndrome (USH) is the leading genetic cause of com

8 Usher syndrome (USH) is the most common cause of inherit

9 Usher syndrome (USH) is the most common form of deaf-bli

10 Usher syndrome (USH) is the most common form of heredita

11 Usher syndrome (USH) is the most common inherited deaf-b

12 Usher syndrome 1B (USH1B) is a devastating genetic disor

13 Usher syndrome 1C (USH1C) is a congenital condition mani

14 Usher syndrome 3A (USH3A) is an autosomal recessive diso

15 Usher syndrome can cause loss of vision, hearing, and ba

16 Usher syndrome is a genetically heterogeneous disorder c

17 Usher syndrome is a genetically heterogeneous disorder c

18 Usher syndrome is an inherited and irreversible disease

19 Usher syndrome is characterized by congenital deafness a

20 Usher Syndrome is the commonest cause of inherited blind

21 Usher syndrome is the leading cause of genetic deaf-blin

22 Usher syndrome is the major cause of deaf/blindness in t

23 Usher syndrome results were like those in nonsyndromic R

24 Usher syndrome type 1 (USH1) causes combined hearing and

25 Usher syndrome type 1 (USH1) is an autosomal recessive,

26 Usher syndrome type 1 describes the association of profo

27 Usher syndrome type 1 F (USH1F), caused by mutations in

28 Usher syndrome type 1b (USH1B) is an autosomal recessive

29 Usher syndrome type 1B is a combined deaf-blindness cond

30 Usher syndrome type 1b, which is characterized by profou

31 Usher syndrome type 1C (USH1C/harmonin) is associated wi

32 Usher syndrome type 1F (USH1F), characterized by congeni

33 Usher syndrome type 1F (USH1F), resulting from mutations

34 Usher syndrome type 2 (USH2) (n = 80) or autosomal reces

35 Usher syndrome type 2 (USH2) is the predominant form of

36 Usher syndrome type 2A (USH2A) is a genetic disorder cha

37 Usher syndrome type I (USH1) is characterized by deafnes

38 Usher syndrome type I is an autosomal recessive disorder

39 Usher syndrome type I is characterized by congenital hea

40 Usher syndrome type Ib is a recessive autosomal disorder

41 Usher syndrome type IC is a rare, autosomal recessive se

42 Usher syndrome type ID, one of seven Usher syndrome type

43 Usher syndrome type II (USH2) is a genetically heterogen

44 Usher syndrome type IIA (MIM: 27601) is an autosomal rec

45 Usher syndrome type IIa (OMIM 276901), an autosomal rece

46 Usher syndrome type IIA (USH2A), characterized by progre

47 Usher syndrome type IIa (USHIIa) is an autosomal recessi

48 Usher syndrome type IIa is the most common of the Usher

49 Usher syndrome type IIa patients demonstrated symptoms a

50 Usher syndrome type III (USH3) characterized by progress

51 Usher syndrome type III (USH3) is characterized by progr

52 Usher syndrome type III is an autosomal recessive disord

53 Usher type 1C maps to the region containing the genes AB

54 Usher's II patients exhibited the most pronounced reduct

55 Usher's syndrome is a combined deafness and blindness di

56 Stargardt disease (approximately 1:16 000), Usher syndrome (approximately 1:16,000), and congenital

57 ption results in the sensory disorder type 1 Usher syndrome (USH1).

58 Mutations of myosin-7a cause type 1 Usher syndrome, the most common and severe form of deafb

59 shown to be mutated in families with type 1C Usher syndrome, and is hence assigned the name USH1C.

60 encoded by the most prevalent North American Usher syndrome III mutation, the N48K form of clarin-1 d

61 SC)-derived photoreceptor precursors from an Usher syndrome patient homozygous for the c.2299delG mut

62 I:1, MYO7A variants primarily resulted in an Usher syndrome 1 phenotype.

63 ated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J).

64 -protein interaction network of the IMAC and Usher complex and may also shed light on the etiology of

65 of proteins that comprise both the IMAC and Usher complex are not yet fully elucidated.

66 repeat-based scaffolds found in the IMAC and Usher complex.

67 IIa cause the shaker-1 phenotype in mice and Usher syndrome 1B in human, which are characterized by d

68 iance in phenotype between shaker-1 mice and Usher type 1 syndrome.

69 year-old woman with retinitis pigmentosa and Usher syndrome who presented with autoimmune encephaliti

70 n that persons with retinitis pigmentosa and Usher's syndrome have lower blood levels of long-chain p

71 ased therapies are on the horizon for RP and Usher syndrome, studies characterizing natural disease a

72 bjects showed similar associations in RP and Usher syndrome.

73 omal recessive retinitis pigmentosa (RP) and Usher syndrome, for which there are currently no approve

74 e) deafness such as Waardenburg syndrome and Usher 1B syndrome, little is known about the genetic bas

75 ne cause a deaf-blindness disorder, known as Usher syndrome 1B.

76 n USH1C and ankyrin repeat proteins, such as Usher syndrome.

77 ssive deafness mutation, shaker-1 as well as Usher syndrome type 1b.

78 0 that we reported earlier to cause atypical Usher syndrome.

79 is homologous to the myosin-7a (MYO7A)-based Usher syndrome complex and Choi et al. also report that

80 a product of the gene for the deaf/blindness Usher syndrome type 1F/DFNB23 locus.

81 in myosin VIIA (MYO7A) cause deaf-blindness (Usher syndrome type 1B, USH1B) and nonsyndromic deafness

82 CDH23 null alleles cause deaf-blindness (Usher syndrome type 1D; USH1D), whereas missense mutatio

83 herin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness.

84 ing the motor protein myosin VIIa, can cause Usher 1B, a deafness/blindness syndrome in humans, and t

85 s in the gene encoding myosin VIIa can cause Usher syndrome type 1b (USH1B), a disease characterized

86 Mutations in human CDH23 cause Usher syndrome type 1D and thus, establish waltzer as th

87 ions in the orthologous gene in humans cause Usher syndrome type 1B or non-syndromic deafness.

88 Pathogenic USH2A mutations cause Usher's syndrome, associated with hearing loss and visua

89 , mutations in the gene encoding MYO7A cause Usher syndrome type IB, autosomal-recessive nonsyndromic

90 Mutations in myosin-VIIa (MYO7A) cause Usher syndrome type 1, characterized by combined deafnes

91 ations in the myosin VIIa gene (MYO7A) cause Usher syndrome type 1B (USH1B), a major type of the deaf

92 Mutations in PCDH15 cause Usher Syndrome (deaf-blindness) and recessive deafness.

93 human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by reti

94 IIa gene (MYO7A) have been reported to cause Usher type Ib.

95 r hair cells, and mutations in whirlin cause Usher syndrome (USH2D) and nonsyndromic congenital deafn

96 some of which are assembled by the Chaperone Usher Pathway (Cup).

97 B), a major type of the deaf-blind disorder, Usher syndrome.

98 tentially shedding light on cystic fibrosis, Usher syndrome and other diseases over-represented in th

99 a knock-in mouse model, Ush1c c.216G>A, for Usher syndrome type IC (USH1C).

100 We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregati

101 The gene for Usher syndrome type II (USH2A), an autosomal recessive s

102 Whirlin is the causative gene for Usher syndrome type IID (USH2D), a condition manifested

103 in complex and could be a candidate gene for Usher syndrome.

104 her syndrome type 1 (USH1), NGS of genes for Usher syndrome, deafness and retinal dystrophy and subse

105 e past years, genes have been identified for Usher syndrome, Alport syndrome, deafness with fixation

106 art of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18.

107 ptor function in the shaker1 mouse model for Usher type 1B that lacks a functional Myo7A gene.

108 targeting a causal splice site mutation for Usher syndrome corrects gene expression in the inner ear

109 nes that would cover the critical region for Usher syndrome type Ib.

110 with Myosin VIIa, a protein responsible for Usher syndrome type IB.

111 he authors show that protein responsible for Usher syndrome, CIB2, interacts with these channels and

112 There was a tendency for Usher syndrome patients to have a higher distribution of

113 Plasma and RBCs from Usher's syndrome type I, but not type II, have lower lev

114 th the c.216G>A mutation, which causes human Usher syndrome, the leading genetic cause of combined de

115 unconventional myosin, responsible for human Usher syndrome type 1B, which causes hearing and visual

116 ry function, is a gene responsible for human Usher syndrome type 1B, which causes hearing and visual

117 e ortholog of the gene responsible for human Usher syndrome type IC and for the non-syndromic deafnes

118 own to cause deafness and blindness in human Usher syndrome.

119 Cad99C, the Drosophila ortholog of human Usher protocadherin PCDH15, is expressed in several embr

120 lose to, but does not overlap, that of human Usher's 1F [2].

121 ophila myosin VIIA, the homolog of the human Usher Syndrome 1B gene, also functions in conjunction wi

122 Because the human Usher Syndrome 1D-associated mutation, CDH23 R3175H, map

123 We recently identified the human Usher syndrome type IIA gene (USH2A) on chromosome 1q41,

124 lts in loss of hearing and vision in humans (Usher syndrome III), but the role of clarin-1 in the sen

125 The comparison between patients with type I Usher syndrome and those with type II Usher syndrome rev

126 red in persons with Usher's syndrome type I; Usher's syndrome type II; or no retinal disease (control

127 nical differences between type I and type II Usher syndrome and between the 2 most frequent mutations

128 nical differences between type I and type II Usher syndrome and between the 2 most frequent mutations

129 type I Usher syndrome and those with type II Usher syndrome revealed P < .001 for most items analyzed

130 report that VsEPs are absent or abnormal in Usher mice, indicating profound loss of vestibular funct

131 ory receptors in the eye and inner ear as in Usher syndrome.

132 n transport might contribute to blindness in Usher syndrome.

133 To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7

134 waltzer (av) mouse, a model for deafness in Usher syndrome 1F (USH1F), were identified.

135 suggests that the kinetics of GVF decline in Usher syndrome type II are, on average, very similar to

136 e mechanisms underlying retinal dystrophy in Usher syndrome type I (USH1) remain unknown because muta

137 s) to directly assess vestibular function in Usher mice.

138 in progressive loss of vision and hearing in Usher syndrome IIIA (USH3A) patients.

139 armonin and whirlin, which are implicated in Usher type 1 and type 2 syndromes.

140 use retinal degeneration and hearing loss in Usher syndrome type II (USH2) and non-syndromic deafness

141 20:3n-6, 20: 5n-3, and 22:6n-3 were lower in Usher's syndrome type I compared with the control group.

142 istributions of gender (48% vs. 45% males in Usher syndrome type IIa vs. nonsydromic RP; P = 0.8), et

143 otein product encoded by the gene mutated in Usher syndrome III.

144 Three biologically important mutations in Usher syndrome type IIa patients were identified in a ge

145 o cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F).

146 orrelations and compared visual prognosis in Usher syndrome type IIa and nonsyndromic RP.

147 s in protocadherin 15 are known to result in Usher Syndrome type 1F (USH1F).

148 We found novel variants in Usher syndrome type IIa (25%) and nonsyndromic RP (19%):

149 tudy, a panel of 189 genetically independent Usher I cases were screened for the presence of mutation

150 The most common form of syndromic RP is Usher syndrome (USH) accounting for approximately 20-30

151 , the most common syndromic form of which is Usher syndrome (USH).

152 e contiguous gene deletion and with isolated Usher type 1C.

153 corrected pre-mRNA splicing in the juvenile Usher syndrome type 1c (Ush1c) mouse mutant.

154 We noted expression of all known Usher proteins in bovine tracheal epithelial cells and e

155 tial mouse model for the human deafness loci Usher syndrome type ID (USH1D) and DFNB12.

156 rigin, 50.0% of which were syndromic (mainly Usher and Waardenburg syndromes) and 50.0% were nonsyndr

157 16.1%) were of syndromic RP patients, mostly Usher syndrome; 20 eyes (12.4%).

158 is work shows for the first time that native Usher protein complexes occur in vivo.

159 Mouse models carrying mutations for the nine Usher-associated genes have splayed stereocilia, and som

160 stem for large-scale biochemical analysis of Usher protein complexes.

161 the MYO7A gene are the most common cause of Usher syndrome type 1, characterized by profound congeni

162 USH2A variants are the most common cause of Usher syndrome type 2, characterized by congenital senso

163 at these mutations are the probable cause of Usher Syndrome Type IIA in this individual.

164 sherin protein, are the most common cause of Usher syndrome worldwide, with c.2299delG (p.Glu767Serfs

165 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP.

166 cadherin-15, are among the leading causes of Usher syndrome type 1 (USH1F), and account for up to 12%

167 ontaining protein harmonin are the causes of Usher syndrome type 1C (USH1C), a syndrome of congenital

168 riants in USH2A with a clinical diagnosis of Usher Syndrome or autosomal recessive retinitis pigmento

169 ing variants in USH2A, clinical diagnosis of Usher syndrome type 2 (USH2) or autosomal recessive nons

170 19 patients with an established diagnosis of Usher syndrome type II, and the average interocular GVF

171 e proband was consistent with a diagnosis of Usher Syndrome Type IIA.

172 heterogeneity analyses showed no evidence of Usher types Ia or Ie.

173 trafficking inhibitors show the existence of Usher protein complexes in at least two vesicular subpoo

174 disruption and degeneration, key features of Usher syndrome, began at the age of 4 months old and per

175 It can be a manifestation of Usher syndrome and has been linked with autoimmune retin

176 nal myosin MYO7A and are the murine model of Usher 1B syndrome, become profoundly deaf at 1 month of

177 t mice (Myo7a(Sh1/Sh1)), the murine model of Usher 1B syndrome, exhibit a progressive loss of the ste

178 Finally, a mouse model of Usher syndrome lacking harmonin exhibits microvillar pro

179 ring inner ear functions in a mouse model of Usher syndrome type 1G, characterized by congenital prof

180 link clarin-1 to the interactive network of Usher syndrome gene products.

181 To gain insight into the pathogenesis of Usher syndrome type IIA, we isolated and characterized t

182 the mechanisms, genetics and pathogenesis of Usher syndrome.

183 imately 1.6 cM and encompasses the region of Usher syndrome type 1C (USH1C).

184 d in the photoreceptor cells, with rescue of Usher 2 complex localization in the photoreceptors of us

185 are unique from the bundle cohesion role of Usher syndrome type 1 protein complexes.

186 mutations in PDZD7 increase the severity of Usher type II syndrome caused by mutations in USH2A and

187 dence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confi

188 (MYO7A) cause a common and severe subtype of Usher syndrome (USH1B).

189 hearing loss, is the most common subtype of Usher syndrome.

190 Two types of Usher syndrome, a blindness-deafness disorder, result fr

191 We focused on Usher syndrome, a devastating genetic disorder that caus

192 me 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as

193 cause either nonsyndromic deafness DFNB23 or Usher syndrome type 1F (USH1F) in humans and deafness wi

194 23, PCDH15, USH1C cause either DFNB forms or Usher syndrome type 1 (USH1) (USH1/DFNB genes).

195 ts with diagnoses of retinitis pigmentosa or Usher syndrome type II underwent complete ocular examina

196 elve patients with autosomal recessive RP or Usher syndrome type 2 were ascertained who had a parafov

197 Patients with retinitis pigmentosa (RP) or Usher syndrome and normal subjects had MP optical densit

198 elation exists, akin to that shown for other Usher syndrome disease genes, is warranted.

199 its PDZ-domains, with the products of other Usher syndrome genes, including Myo7a, Cdh23 and Sans.

200 r disease in CLRN1(N48K), the most prevalent Usher syndrome III mutation in North America.

201 15 eyes (10 participants) with USH2A-related Usher syndrome type 2 (USH2), 16 eyes (9 participants) w

202 5 (PCDH15) found in two families segregating Usher syndrome type 1F.

203 In a consanguineous Saudi family segregating Usher syndrome type 1 (USH1), NGS of genes for Usher syn

204 Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been m

205 Six Usher I genetic subtypes at loci USH1A-USH1F have been r

206 vesicular trafficking mechanism for specific Usher protein variants in mouse cochlear hair cells, wit

207 Strikingly, Usher mice receiving ASO-29 treatment have normal or ele

208 nventional myosin responsible for syndromic (Usher 1B) or nonsyndromic forms of deafness in humans wh

209 f tracheal epithelial cells, predicting that Usher proteins may be directionally transported as compl

210 The Usher syndrome type 1C (USH1C) and familial hyperinsulin

211 The Usher syndromes (USH) are a group of autosomal recessive

212 We discuss how the proteins encoded by the Usher syndrome type 1 genes form molecular complexes req

213 is identified as the candidate gene for the Usher syndrome 1 a locus.

214 or development, SIAH2 is a candidate for the Usher syndrome type 3 gene at chromosome 3q21-q25.

215 nd AFM144XF2 as two flanking markers for the Usher type IIa locus.

216 heory of a protein interactome involving the Usher proteins in both the inner ear and the retina.

217 s, confirming a vesicular association of the Usher complex(es).

218 operates in sensory epithelia as part of the Usher complex, lacks the inherent ability to target to m

219 top of the gradient that included all of the Usher proteins and rab5, a transport vesicle marker.

220 The presence of the Usher proteins at the basal and apical aspects of the ne

221 the presence of phenylbutyrate, most of the Usher proteins cosediment into the gradient at a sedimen

222 n-coupled receptor VLGR1, the product of the Usher syndrome USH2C (Mass1) locus.

223 syndrome type IIa is the most common of the Usher syndromes, accounting for over half of all cases.

224 A long-range physical map of the Usher type IIa critical region, using MluI, BssHII, NotI

225 atterning of the auditory sensory organ, the Usher complex, and the planar cell polarity pathway in t

226 The IMAC bears remarkable homology to the Usher complex, whose disruption results in the sensory d

227 and that CALML4 can also associate with the Usher complex component myosin-7a.

228 eracts genetically and physically with three Usher syndrome proteins.

229 ing gene therapy to prevent blindness due to Usher syndrome as well as delivering prognostic informat

230 Deafblindness is mostly due to Usher syndrome caused by recessive mutations in the know

231 Mutations in the MYO7A gene lead to Usher syndrome type 1B (USH1B), a disease characterized

232 spectrum of genetic variations that lead to Usher Syndrome, aiding genetic diagnosis, assessment of

233 irlin/DFNB31, a PDZ domain protein linked to Usher syndrome, the most common form of human deaf-blind

234 function of the USH2A protein predisposes to Usher syndrome type IIa, but remnant protein function ca

235 the clinical development of UshStat to treat Usher type 1B syndrome.

236 ic markers in recombinant individuals in two Usher syndrome type IIa families has enabled us to ident

237 nces in rate of change between disease type (Usher syndrome or retinitis pigmentosa), imaging site, o

238 auditory systems but different from typical Usher syndrome.

239 g type I, II, III, atypical, or unclassified Usher syndrome according to their clinical history, pedi

240 symbol Mass1) recently was shown to underlie Usher syndrome type IIC (USH2C).

241 distinct diseases, mutations in yet unknown Usher genes or in extra-exonic parts of the known genes

242 that CIB2 is a new member of the vertebrate Usher interactome.

243 esion GPCR, ADGRV1, which is associated with Usher syndrome (USH), a condition of combined hearing an

244 CLRN1, which has never been associated with Usher syndrome in Saudi Arabia.

245 ene encoding cadherin 23 are associated with Usher syndrome type 1 (USH1D), isolated deafness (DFNB12

246 n its corresponding gene are associated with Usher syndrome type 3, characterized by late-onset and p

247 e most common USH2A mutation associated with Usher syndrome type II (i.e., retinitis pigmentosa and h

248 isual and hearing impairment consistent with Usher Syndrome Type IIA.

249 ions presented with features consistent with Usher type 1.

250 In our analysis, 151 families with Usher I were screened by linkage and mutation analysis.

251 utations were identified in 64 families with Usher I.

252 ations have been identified in families with Usher syndrome.

253 :0 and 18:1n-9 were higher in the group with Usher's syndrome type I.

254 g to missense mutations found in humans with Usher syndrome type IIa.

255 ients with retinitis pigmentosa and one with Usher syndrome type 2 who participated in a phase 2 clin

256 h AmericaStudy Population: Participants with Usher syndrome type 2 (USH2) (N = 80) or autosomal reces

257 Participants with Usher syndrome type 2 (USH2, N = 80) and nonsyndromic au

258 Comparisons were made to patients with Usher syndrome (n = 83, ages 10-69 years).

259 seling, and risk assessment of patients with Usher syndrome because an estimated prognosis of their d

260 uture clinical applications in patients with Usher syndrome.

261 sis of intestinal pathology in patients with Usher syndrome.

262 carbon PUFA levels from RBCs of persons with Usher's syndrome type I were lower than those from contr

263 od cells (RBCs) was compared in persons with Usher's syndrome type I; Usher's syndrome type II; or no

264 n control subjects (n = 54) and persons with Usher's syndrome type II (n = 20).

265 those from control subjects and persons with Usher's Syndrome type II.

266 e present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndrom

267 However, those with Usher syndrome type IIa have an earlier decline of visua

268 etinitis pigmentosa, particularly those with Usher's II, have an abnormal lipid composition that is a