ライフサイエンスコーパス: Usher syndrome

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

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

3 ations have been identified in families with Usher syndrome.

4 bjects showed similar associations in RP and Usher syndrome.

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

6 n transport might contribute to blindness in Usher syndrome.

7 uture clinical applications in patients with Usher syndrome.

8 auditory systems but different from typical Usher syndrome.

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

10 0 that we reported earlier to cause atypical Usher syndrome.

11 sis of intestinal pathology in patients with Usher syndrome.

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

13 the mechanisms, genetics and pathogenesis of Usher syndrome.

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

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

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

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

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

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

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

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

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

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

24 16.1%) were of syndromic RP patients, mostly Usher syndrome; 20 eyes (12.4%).

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

45 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

63 Usher syndrome is a genetically heterogeneous disorder c

64 Usher syndrome is a genetically heterogeneous disorder c

65 Usher syndrome is an inherited and irreversible disease

66 Usher syndrome is characterized by congenital deafness a

67 Usher Syndrome is the commonest cause of inherited blind

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

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

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

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

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

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

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

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

76 eracts genetically and physically with three Usher syndrome proteins.

77 Usher syndrome results were like those in nonsyndromic R

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

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

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

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

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

83 23, PCDH15, USH1C cause either DFNB forms or Usher syndrome type 1 (USH1) (USH1/DFNB genes).

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

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

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

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

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

89 Usher syndrome type 1 describes the association of profo

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

120 5 (PCDH15) found in two families segregating Usher syndrome type 1F.

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

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

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

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

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

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

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

128 15 eyes (10 participants) with USH2A-related Usher syndrome type 2 (USH2), 16 eyes (9 participants) w

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

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

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

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

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

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

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

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

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

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

139 Usher syndrome type I is an autosomal recessive disorder

140 Usher syndrome type I is characterized by congenital hea

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

142 Usher syndrome type Ib is a recessive autosomal disorder

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

158 19 patients with an established diagnosis of Usher syndrome type II, and the average interocular GVF

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

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

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

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

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

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

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

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

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

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

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

170 Usher syndrome type IIa patients demonstrated symptoms a

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

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

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

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

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

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

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

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

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

180 Usher syndrome type III (USH3) characterized by progress

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

182 Usher syndrome type III is an autosomal recessive disord

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

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

185 Usher syndrome (USH) is a genetically heterogeneous dise

186 Usher syndrome (USH) is a genetically heterogeneous grou

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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