ライフサイエンスコーパス: type VII collagen

1 istering disease driven by autoantibodies to type VII collagen.

2 ering disease due to defective extracellular type VII collagen.

3 ted in persistent synthesis and secretion of type VII collagen.

4 characterized by IgG autoantibodies against type VII collagen.

5 lcerative colitis demonstrated reactivity to type VII collagen.

6 ion caused the intracellular accumulation of type VII collagen.

7 of developing appendageal cords that lacked type VII collagen.

8 ieved to be necessary for the degradation of type VII collagen.

9 g demonstrates intracellular accumulation of type VII collagen.

10 zed by the presence of IgG autoantibodies to type VII collagen.

11 on mutations in the triple-helical region of type VII collagen.

12 erapy engineered to deliver functional human type VII collagen.

13 y damaging variants in COL7A1, which encodes type VII collagen.

14 expressed the amino-terminal NC1 fragment of type VII collagen.

15 e induced by autoantibodies directed against type VII collagen.

16 ase with IgA autoantibodies directed against type VII collagen.

17 sed by mutations in the COL7A1 gene encoding type VII collagen.

18 sed by mutations in the COL7A1 gene encoding type VII collagen.

19 bullous disease caused by autoantibodies to type VII collagen.

20 stering, autoantibodies are directed against type VII collagen.

21 control IgG1 autoantibodies directed against type VII collagen.

22 s of anti-Hsp90 treatment in autoimmunity to type VII collagen.

23 jected allogeneic fibroblasts or recombinant type VII collagen.

24 of anchoring fibrils, which are composed of type VII collagen.

25 within the noncollagenous 1 (NC1) domain of type VII collagen.

26 a (SCC) in the presence of the NC1 domain of type VII collagen.

27 eficient mice with rabbit Abs against murine type VII collagen.

28 als who did not express detectable levels of type VII collagen.

29 Type VII collagen, a major component of skin-anchoring f

30 bound and circulating autoantibodies against type VII collagen, a major constituent of the dermal-epi

31 lysis bullosa (RDEB) is caused by defects of type VII collagen, a protein essential for anchoring fib

32 The 290 kDa type VII collagen alpha chain was demonstrated by wester

33 mutations in the COL7A1 gene that codes for type VII collagen, an extracellular matrix component of

34 ntradermal gentamicin administration induced type VII collagen and AFs at the dermal-epidermal juncti

35 Primary outcomes were induction of type VII collagen and AFs at the test sites and safety a

36 ntradermal gentamicin administration induces type VII collagen and AFs in RDEB patients.

37 in suppresses nonsense mutations and induces type VII collagen and AFs in RDEB patients.

38 Individuals with DEB lack type VII collagen and anchoring fibrils, structures that

39 rected RDEB cells had restored expression of type VII collagen and formation of anchoring fibrils at

40 we have examined the in vivo distribution of type VII collagen and gelatinase A (Gel A) in the develo

41 ita is caused by antibodies directed against type VII collagen and is mediated by complement activati

42 DEB fibroblasts, were gene-corrected to make type VII collagen and used to regenerate human skin on i

43 mal human fibroblasts can generate new human type-VII collagen and anchoring fibrils at the DEJ.

44 ions in the COL7A1 gene that lead to reduced type-VII collagen and defective anchoring fibrils at the

45 )), had no evidence of an immune response to type VII collagen, and expressed the amino-terminal NC1

46 s in the anchoring fibrils, which consist of type VII collagen, and, recently, mutations in the corre

47 In this study, we affinity-purified anti-type VII collagen antibodies from EBA patients' sera and

48 ng of skin equivalent sections with the anti-type VII collagen antibody revealed tight linear stainin

49 ced re-expression and normal localization of type VII Collagen as well as anchoring fibril formation

50 cell clone showed secretion of the corrected type VII collagen at similar levels compared to normal k

51 l fibroblasts alone are capable of producing type VII collagen at the DEJ, and it is possible to rest

52 it is thought that keratinocytes account for type VII collagen at the dermal-epidermal junction (DEJ)

53 ene-modified RDEB fibroblasts also deposited type VII collagen at the dermal-epidermal junction of hu

54 rejection and support sustained delivery of type VII collagen at the dermal-epidermal junction.

55 n resulted in the stable expression of human type VII collagen at the mouse DEJ.

56 RNA levels with greater deposition of mutant type-VII collagen at the DEJ and formation of additional

57 We noted increased type-VII collagen at the DEJ at 2 weeks and at 3 months

58 Anti-type VII collagen autoantibodies are often detectable in

59 Anti-type VII collagen autoantibodies can precede the clinica

60 VII collagen induction did not generate anti-type VII collagen autoantibodies in patients' blood or s

61 e and decrease in levels of circulating anti-type VII collagen autoantibodies, which mirrored skin di

62 he onset of BSLE showed the presence of anti-type VII collagen autoantibodies.

63 Purified type VII collagen bound to fibronectin, laminin-5, type

64 agen, recombinant entactin, or NC1 domain of type VII collagen by dot blotting and western blotting.

65 m Crohn's disease patients also reacted with type VII collagen by immunoblot analysis.

66 cterized by mutations in the COL7A1 gene and type VII collagen (C7) deficiency.

67 sis bullosa (DEB) is due to mutations in the type VII collagen (C7) gene.

68 Type VII collagen (C7) is a major component of anchoring

69 lysis bullosa (RDEB) is caused by defects of type VII collagen (C7), a protein essential for anchorin

70 oss-of-function mutations in COL7A1 encoding type VII collagen (C7), the main component of anchoring

71 loss-of-function variants in COL7A1 encoding type VII collagen (C7), the main component of anchoring

72 tions in COL7A1 that results in a deficit of type VII collagen (C7), we have observed patches of heal

73 sed by mutations in the COL7A1 gene encoding type VII collagen (C7), which progressively results in p

74 caused by mutations in COL7A1, which encodes type VII collagen (C7).

75 re genetic disease resulting from inadequate type VII collagen (C7).

76 It is due to mutations in the gene encoding type VII collagen (C7).

77 ed by mutations in COL7A1, the gene encoding type VII collagen (C7).

78 Functional impairment or complete loss of type VII collagen, caused by mutations within COL7A1, le

79 oimmune disease induced by autoantibodies to type VII collagen causing mucocutaneous blisters.

80 n this study we have cloned the entire mouse type VII collagen cDNA and elucidated the intron-exon or

81 However, the full-length 9-kilobase type VII collagen cDNA exceeds the cloning capacity of c

82 The CHO-derived recombinant type VII collagen (CHO-rhC7), similar to FB-rhC7, was se

83 Anchoring fibrils are made of type VII collagen (Col7) and link different skin layers

84 e the contribution of autoantibodies against type VII collagen (COL7) to the pathogenesis of EBA.

85 nes, characterized by autoantibodies against type VII collagen (COL7), a major component of anchoring

86 sed by mutations in the COL7A1 gene-encoding type VII collagen (Col7), the major component of anchori

87 a (EBA), an AIBD caused by autoantibodies to type VII collagen (COL7).

88 is an AIBD associated with autoantibodies to type VII collagen (COL7).

89 ring disease, characterized by antibodies to type VII collagen (COL7).

90 gus of genetically altered mice that express type VII collagen constitutively, but with its expressio

91 transfer of experimental antibodies against type VII collagen create subepidermal blisters in mice t

92 Type VII collagen defects cause recessive dystrophic epi

93 A prime example is the cross-correction of type VII collagen deficiency in generalised severe reces

94 cing COL7A1 exons 65-118, was delivered into type VII collagen deficient patient keratinocytes, carry

95 Type VII collagen deficits alter TGFbeta signaling and e

96 by COL7A1 sequence variations that result in type VII collagen deficits and cutaneous and extracutane

97 This is the first antigenic epitope on type VII collagen demonstrated to be a pathogenic target

98 al in improving skin adhesion and increasing type VII collagen deposition at the dermal-epidermal jun

99 ssive environment for tumor development, and type VII collagen directly regulates the composition of

100 uals with RDEB can develop SCC regardless of type VII collagen expression and that additional factors

101 ts combined with RDEB keratinocytes restored type VII collagen expression at the DEJ in vivo.

102 Type VII collagen expression at the dermal-epidermal jun

103 Interestingly, in contrast to the increased type VII collagen expression in fibroblasts in response

104 DEB skin stably restored correctly localized type VII collagen expression in vivo and normalized hall

105 es, suggesting that the effect of UVA on the type VII collagen expression is cell type specific.

106 Molecular correction was assessed as type VII collagen expression measured by immunofluoresce

107 unchanged, suggesting that the induction of type VII collagen expression was selective.

108 Immunoprecipitation of type VII collagen from fibroblasts of the twins revealed

109 sly demonstrated genetic linkage between the type VII collagen gene (COL7A1) and the dominant (DDEB)

110 Mutations in the type VII collagen gene (COL7A1) are known to underlie di

111 We have characterized 21 mutations in the type VII collagen gene (COL7A1) encoding the anchoring f

112 ming growth factor-beta (TGF-beta) increases type VII collagen gene (COL7A1) expression in human derm

113 Mutations in the type VII collagen gene (COL7A1) have been shown to under

114 Mutations in the type VII collagen gene (COL7A1) have been shown to under

115 n in the last nucleotide of intron 35 of the type VII collagen gene (COL7A1) in a family with autosom

116 a, synergistically enhance the expression of type VII collagen gene (COL7A1) in human dermal fibrobla

117 sted to by demonstration of mutations in the type VII collagen gene (COL7A1) in patients with dystrop

118 strophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mutations.

119 losa (HS-RDEB) results from mutations in the type VII collagen gene (COL7A1) on chromosome 3p21.31.

120 ense mutations on both alleles of either the type VII collagen gene (COL7A1) or the genes encoding la

121 In this study, we have dissected the human type VII collagen gene (COL7A1) promoter to characterize

122 The human type VII collagen gene (COL7A1) recently has been identi

123 the transcriptional control elements of the type VII collagen gene (Col7a1), 3 kb of 5' flanking seq

124 s disorders caused by mutations in the human type VII collagen gene (COL7A1).

125 is bullosa (DEB) are due to mutations in the type VII collagen gene (COL7A1).

126 olysis bullosa results from mutations in the type VII collagen gene (COL7A1).

127 sease to the region of chromosome 3 near the type VII collagen gene (COL7A1).

128 istering disorder caused by mutations in the type VII collagen gene (COL7A1).

129 ty and blistering caused by mutations in the type VII collagen gene (Col7a1).

130 isorders that are caused by mutations in the type VII collagen gene and for which ex vivo gene therap

131 -bullous disorder caused by mutations in the type VII collagen gene and perturbations in anchoring fi

132 The UVA-induced enhancement of type VII collagen gene expression correlated with an inc

133 en at the DEJ, and it is possible to restore type VII collagen gene expression in RDEB skin in vivo b

134 s demonstrate that it is possible to restore type VII collagen gene expression in RDEB skin in vivo.

135 bitor, blocked the UVA-mediated induction of type VII collagen gene expression, whereas cycloheximide

136 Mutations in the type VII collagen gene, COL7A1, give rise to the blister

137 ht into the evolutionary conservation of the type VII collagen gene, in this study we have cloned the

138 Type VII collagen gene-corrected grafts (approximately 3

139 s with RDEB, there was wound healing in some type VII collagen gene-corrected grafts, but the respons

140 disorder of skin caused by mutations in the type VII collagen gene.

141 Wounds with recombinant type VII collagen graft sites displayed 75% or greater h

142 COL7A1, encoding type VII collagen, has been identified as the candidate

143 One year after the onset of BSLE, the anti-type VII collagen IgG decreased below levels observed be

144 Levels of anti-type VII collagen IgG increased after bullous lesions ap

145 EBA, disease was induced by transfer of anti-type VII collagen IgG into mice.

146 disease can be induced by injection of anti-type VII collagen IgG.

147 h inhibitors ameliorated clinical disease of type VII collagen-immunized mice, suppressed auto-antibo

148 Skin biopsy revealed positive type VII collagen immunoreactivity and recognizable anch

149 t 13-15 wk of gestation a marked decrease in type VII collagen immunoreactivity was seen in the BMZ s

150 from 10 people with RDEB all showed positive type VII collagen immunostaining and observations in a m

151 of RDEB patients, we examined expression of type VII collagen in 17 SCC tumors excised from 11 patie

152 titution within the triple-helical domain of type VII collagen in affected individuals.

153 One critical issue is the stability of type VII collagen in anchoring fibrils, which will ultim

154 on sample showed localization of laminin and type VII collagen in basal epithelial cells only.

155 al epithelium showed presence of laminin and type VII collagen in basal epithelium and basal lamina.

156 est that autoantibodies that recognize human type VII collagen in EBA are pathogenic.

157 let A (UVA) irradiation on the expression of type VII collagen in human fibroblasts.

158 nstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutat

159 In this study, we produced recombinant human type VII collagen in stably transfected human 293 cell c

160 istically, hd-IgG reduced the amount of anti-type VII collagen in the skin and sera, which is indicat

161 al. attempted to determine the half-life of type VII collagen in the skin, tongue, and esophagus of

162 , we produced the entire NC1 domain of human type VII collagen in the stably transfected human kidney

163 Type VII collagen induction did not generate anti-type V

164 injection of RDEB fibroblasts overexpressing type VII collagen into intact RDEB skin stably restored

165 The passive transfer of Abs against type VII collagen into mice induces a subepidermal blist

166 The transfer of antibodies against murine type VII collagen into mice mimics the effector phase of

167 by intradermally injecting human recombinant type VII collagen into mouse skin and a DEB human skin e

168 Type VII collagen is a major component of anchoring fibr

169 We recently demonstrated that type VII collagen is a novel component of the inner enam

170 Type VII collagen is synthesized and secreted by both hu

171 Type VII collagen is the major collagenous component of

172 Type VII collagen is the major component of anchoring fi

173 Type VII collagen is the major component of anchoring fi

174 Type VII collagen is, therefore, unique among the collag

175 The anchoring fibril protein, type VII collagen, is encoded by COL7A1, which harbors m

176 Although both cell types can secrete type VII collagen, it is thought that keratinocytes acco

177 Patients with undetectable type VII collagen keratinocyte expression were excluded.

178 Antibodies to type VII collagen labeled the junction between the intes

179 ng disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequ

180 amples (42%) at 12 months, including correct type VII collagen localization to anchoring fibrils.

181 Type VII collagen localized in basal epithelial cells on

182 e precise position of the mutation along the type VII collagen molecule.

183 sts in response to UVA, a slight decrease in type VII collagen mRNA level was observed in the UVA-irr

184 a dose-dependent increase (5- to 10-fold) in type VII collagen mRNA levels as detected by northern bl

185 In contrast, type VII collagen mRNA was present in the basal keratino

186 rounding invading appendageal buds; however, type VII collagen mRNA was strongly expressed in the bud

187 and functional studies of in vitro generated type VII collagen mutant proteins will aid in correlatin

188 ease characterized by autoantibodies against type VII collagen of the dermal-epidermal junction.

189 ellular matrix including type XVII collagen, type VII collagen, or the alpha3, beta3, and gamma2 chai

190 ents, including laminin-5, type IV collagen, type VII collagen, perlecan, integrin alpha6, and epithe

191 ense mutations resulting in the synthesis of type VII collagen polypeptide with decreased stability a

192 The absence of type VII collagen production leads to the loss of adhesi

193 marrow cells homed to damaged skin, produced type VII collagen protein and anchoring fibrils, amelior

194 pts and with normal or reduced expression of type VII collagen protein at the dermo/epidermal junctio

195 ese observations suggest that the absence of type VII collagen protein correlates directly with the p

196 py in a patient with RDEB displaying reduced type VII collagen protein expression at the dermal-epide

197 of hallmark RDEB disease features, including Type VII collagen protein expression, anchoring fibril f

198 ction of COL7A1 transcripts and undetectable type VII collagen protein in skin.

199 25 wk of gestational age, immunostaining for type VII collagen protein was absent from the BMZ surrou

200 d detectable levels of the NC1 domain of the type VII collagen protein.

201 play and explores the idea that therapeutic type VII collagen replacement may reduce cutaneous squam

202 d up to 58% of genetic correction as well as type VII Collagen rescue.

203 specimens showed strong expression of human type VII collagen restricted to the basement membrane zo

204 In this study, we examined if type VII collagen secreted solely by dermal fibroblasts

205 Interestingly, total plasma cell numbers, type VII collagen-specific plasma cells, and germinal ce

206 is inhibitor, superinduced the expression of type VII collagen, suggesting that de novo protein synth

207 ral conservation between the human and mouse type VII collagen, supporting the critical role of this

208 agenous amino-terminal domain (NC1) of human type VII collagen, the domain known to contain immunodom

209 This study sought to determine if type VII collagen, the epidermolysis bullosa acquisita a

210 Type VII collagen, the main constituent of anchoring fil

211 Type VII collagen, the major component of anchoring fibr

212 ase caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibr

213 Type VII collagen, the major component of anchoring fibr

214 Type VII collagen, the major component of anchoring fibr

215 mutations in the COL7A1 gene, which encodes type VII collagen, the major component of anchoring fibr

216 wide variety of variants in COL7A1 encoding type VII Collagen, the major component of anchoring fibr

217 s, with the purpose of delivering functional type VII collagen to the skin, have shown encouraging re

218 tudy, we delivered and expressed full-length type VII collagen using a self-inactivating minimal lent

219 Newly created type VII collagen varied from 20% to 165% of that expres

220 DEB) keratinocytes and fibroblasts (in which type VII collagen was absent) resulted in persistent syn

221 e construct into DEB keratinocytes (in which type VII collagen was absent) resulted in persistent syn

222 Expression and secretion of type VII collagen was confirmed with transduced cells ex

223 Read-through type VII collagen was readily detectable in cell culture

224 The recombinant type VII collagen was secreted as a correctly folded, di

225 sed with and forms functional complexes with type VII collagen, we hypothesized that type IV collagen

226 bowel disease may have IgG autoantibodies to type VII collagen, which exists in both the skin and the

227 The G2749R mutation resulted in mutant type VII collagen with increased sensitivity to protease

228 activity against the complete NC1 domain of type VII collagen with the use of an eukaryotic-expresse