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 auditory systems but different from typical Usher syndrome.

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

9 0 that we reported earlier to cause atypical Usher syndrome.

10 sis of intestinal pathology in patients with Usher syndrome.

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

12 the mechanisms, genetics and pathogenesis of Usher syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

37 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP.

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

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

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

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

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

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

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

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

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

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

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

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

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

51 Usher syndrome is a genetically heterogeneous disorder c

52 Usher syndrome is a genetically heterogeneous disorder c

53 Usher syndrome is an inherited and irreversible disease

54 Usher syndrome is characterized by congenital deafness a

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

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

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

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

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

60 eracts genetically and physically with three Usher syndrome proteins.

61 Usher syndrome results were like those in nonsyndromic R

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

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

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

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

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

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

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

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

70 Usher syndrome type 1 describes the association of profo

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

95 5 (PCDH15) found in two families segregating Usher syndrome type 1F.

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

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

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

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

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

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

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

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

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

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

106 Usher syndrome type I is an autosomal recessive disorder

107 Usher syndrome type I is characterized by congenital hea

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

109 Usher syndrome type Ib is a recessive autosomal disorder

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

125 19 patients with an established diagnosis of Usher syndrome type II, and the average interocular GVF

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

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

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

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

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

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

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

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

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

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

136 Usher syndrome type IIa patients demonstrated symptoms a

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

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

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

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

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

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

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

144 Usher syndrome type III (USH3) characterized by progress

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

146 Usher syndrome type III is an autosomal recessive disord

147 Usher syndrome (USH) is a genetically heterogeneous dise

148 Usher syndrome (USH) is a genetically heterogeneous grou

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

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

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

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

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

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

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

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

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

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