ライフサイエンスコーパス: Usher

1 Usher syndrome (USH) is a genetically heterogeneous dise

2 Usher syndrome (USH) is a genetically heterogeneous grou

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

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

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

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

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

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

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

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

11 Usher syndrome is a genetically heterogeneous disorder c

12 Usher syndrome is a genetically heterogeneous disorder c

13 Usher syndrome is an inherited and irreversible disease

14 Usher syndrome is characterized by congenital deafness a

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

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

17 Usher syndrome results were like those in nonsyndromic R

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

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

20 Usher syndrome type 1 describes the association of profo

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

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

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

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

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

26 Usher syndrome type I is an autosomal recessive disorder

27 Usher syndrome type I is characterized by congenital hea

28 Usher syndrome type Ib is a recessive autosomal disorder

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

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

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

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

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

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

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

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

37 Usher syndrome type IIa patients demonstrated symptoms a

38 Usher syndrome type III (USH3) characterized by progress

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

40 Usher syndrome type III is an autosomal recessive disord

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

42 Usher's II patients exhibited the most pronounced reduct

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

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

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

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

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

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

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

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

51 bjects showed similar associations in RP and Usher syndrome.

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

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

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

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

56 0 that we reported earlier to cause atypical Usher syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

107 n transport might contribute to blindness in Usher syndrome.

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

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

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

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

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

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

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

115 20:3n-6, 20: 5n-3, and 22:6n-3 were lower in Usher's syndrome type I compared with the control group.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

131 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP.

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

133 19 patients with an established diagnosis of Usher syndrome type II, and the average interocular GVF

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

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

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

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

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

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

140 the mechanisms, genetics and pathogenesis of Usher syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

157 5 (PCDH15) found in two families segregating Usher syndrome type 1F.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

179 eracts genetically and physically with three Usher syndrome proteins.

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

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

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

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

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

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

186 auditory systems but different from typical Usher syndrome.

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

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

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

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

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

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

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

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

195 ions presented with features consistent with Usher type 1.

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

197 utations were identified in 64 families with Usher I.

198 ations have been identified in families with Usher syndrome.

199 :0 and 18:1n-9 were higher in the group with Usher's syndrome type I.

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

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

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

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

204 sis of intestinal pathology in patients with Usher syndrome.

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

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

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

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

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

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

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