ライフサイエンスコーパス: epidermolysis bullosa

1 ntified as the candidate gene for dystrophic epidermolysis bullosa.

2 on seen in patients with dystrophic forms of epidermolysis bullosa.

3 skin blistering disorder Herlitz junctional epidermolysis bullosa.

4 o the chronic blistering disease, dystrophic epidermolysis bullosa.

5 tended family members at risk for junctional epidermolysis bullosa.

6 e to the blistering skin disease, dystrophic epidermolysis bullosa.

7 l junction, diagnostic of Herlitz junctional epidermolysis bullosa.

8 ocyte integrity and resilience in junctional epidermolysis bullosa.

9 idesmosomes was also perturbed in junctional epidermolysis bullosa.

10 c with other variants of dominant dystrophic epidermolysis bullosa.

11 occurs in some blistering disorders such as epidermolysis bullosa.

12 idermolysis bullosa, and dystrophic forms of epidermolysis bullosa.

13 in for mutations in some forms of junctional epidermolysis bullosa.

14 is a clinical variant of dominant dystrophic epidermolysis bullosa.

15 en gene (COL7A1) in patients with dystrophic epidermolysis bullosa.

16 nts with the recessive dystrophic subtype of epidermolysis bullosa.

17 tic syndrome, interstitial lung disease, and epidermolysis bullosa.

18 d bone marrow transplantation for dystrophic epidermolysis bullosa.

19 in of two patients with recessive dystrophic epidermolysis bullosa.

20 ative medicine to cutaneous diseases such as epidermolysis bullosa.

21 umours of patients with Recessive Dystrophic Epidermolysis Bullosa, a disease characterized by chroni

22 an pedigree with generalized atrophic benign epidermolysis bullosa, a distinct nonlethal form of junc

23 Severe generalized junctional epidermolysis bullosa, a lethal hereditary blistering di

24 Patients with generalized atrophic benign epidermolysis bullosa, a usually nonlethal form of junct

25 Epidermolysis bullosa acquisita (EBA) is a chronic mucoc

26 Epidermolysis bullosa acquisita (EBA) is a prototypic or

27 Epidermolysis bullosa acquisita (EBA) is an acquired bli

28 Epidermolysis bullosa acquisita (EBA) is an acquired bul

29 Epidermolysis bullosa acquisita (EBA) is an AIBD associa

30 Epidermolysis bullosa acquisita (EBA) is an autoimmune b

31 Epidermolysis bullosa acquisita (EBA) is an autoimmune b

32 Epidermolysis bullosa acquisita (EBA) is an autoimmune b

33 Epidermolysis bullosa acquisita (EBA) is an autoimmune s

34 d against tissue destruction in experimental epidermolysis bullosa acquisita (EBA), an AIBD caused by

35 flammation, we employed immunization-induced epidermolysis bullosa acquisita (EBA), an autoimmune bul

36 In epidermolysis bullosa acquisita (EBA), an autoimmune dis

37 mice that mimic those seen in patients with epidermolysis bullosa acquisita (see the related article

38 evelopment of new therapeutic strategies for epidermolysis bullosa acquisita and related autoimmune d

39 Epidermolysis bullosa acquisita autoantibodies bound to

40 ought to determine if type VII collagen, the epidermolysis bullosa acquisita autoantigen, was present

41 Epidermolysis bullosa acquisita is a subepidermal bliste

42 Epidermolysis bullosa acquisita is an autoimmune blister

43 immunofluorescence microscopy, not diagnosed epidermolysis bullosa acquisita or anti-laminin-332 muco

44 Furthermore, autoantibodies from epidermolysis bullosa acquisita patients also reacted wi

45 IgG from an epidermolysis bullosa acquisita serum containing autoant

46 -145, were applied to mice with experimental epidermolysis bullosa acquisita, an autoimmune bullous d

47 Systemic diseases are often associated with epidermolysis bullosa acquisita, Crohn's disease being t

48 igus vulgaris/foliaceus, bullous pemphigoid, epidermolysis bullosa acquisita, mucous membrane pemphig

49 action may contribute to the pathogenesis of epidermolysis bullosa acquisita.

50 tise and classified as bullous pemphigoid or epidermolysis bullosa acquisita.

51 e skin of children with recessive dystrophic epidermolysis bullosa after allogeneic bone marrow trans

52 ing the role of alpha 6 beta 4 in junctional epidermolysis bullosa, an often lethal human disorder wi

53 pulation carrier risk for Herlitz junctional epidermolysis bullosa and all variants of junctional epi

54 COL7A1 mutations in patients with dystrophic epidermolysis bullosa and compared them with an establis

55 To explain the milder recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullo

56 f hemophilia, tyrosinemia type I, junctional epidermolysis bullosa and type 1 diabetes.

57 n a patient with generalized atrophic benign epidermolysis bullosa, and applies a new methodology to

58 is, similar to that seen in human junctional epidermolysis bullosa, and death occurs within a few day

59 molytic palmoplantar keratoderma, junctional epidermolysis bullosa, and dystrophic forms of epidermol

60 helming majority of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian

61 e prototypic heritable blistering disorders, epidermolysis bullosa, and related keratinopathies, in w

62 ies underlying different forms of junctional epidermolysis bullosa appear to affect certain critical

63 riasis, infantile hemangiomas and dystrophic epidermolysis bullosa are reviewed.

64 sive cSCCs (n = 71) and recessive dystrophic epidermolysis bullosa-associated cSCCs (n = 11) than in

65 patients with severe generalized junctional epidermolysis bullosa born in the years 2000-2015.

66 s did not have the lethal form of junctional epidermolysis bullosa but, as adults, displayed the mild

67 there is no effective treatment or cure for epidermolysis bullosa, but bone marrow transplantation h

68 Treatment of severe generalized junctional epidermolysis bullosa by SCT is a last-ditch attempt sti

69 cells of patients with recessive dystrophic epidermolysis bullosa can be corrected by homology-direc

70 ibrils in patients with recessive dystrophic epidermolysis bullosa can be morphologically altered, re

71 one in 350, respectively, while the overall epidermolysis bullosa carrier frequency was calculated t

72 ement or cell-based therapies for dystrophic epidermolysis bullosa caused by genetic deficiency of co

73 EB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identi

74 The dystrophic forms of epidermolysis bullosa (DEB) are characterized by fragili

75 The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the

76 Dystrophic epidermolysis bullosa (DEB) is a family of inherited mec

77 Dystrophic epidermolysis bullosa (DEB) is a family of inherited mec

78 Dystrophic epidermolysis bullosa (DEB) is an inherited mechano-bull

79 Dystrophic epidermolysis bullosa (DEB) is an inherited mechano-bull

80 Dystrophic epidermolysis bullosa (DEB) is an inherited mechanobullo

81 Dystrophic epidermolysis bullosa (DEB) is due to mutations in the t

82 gene COL7A1 encoding for C7 cause dystrophic epidermolysis bullosa (DEB), a genetic mechano-bullous d

83 to underlie different variants of dystrophic epidermolysis bullosa (DEB).

84 L7A1) have been shown to underlie dystrophic epidermolysis bullosa (DEB).

85 inherited blistering skin disease dystrophic epidermolysis bullosa (DEB).

86 teeth from patients suffering from recessive epidermolysis bullosa dystrophica (rEBD) in terms of its

87 Heritable forms of epidermolysis bullosa (EB) are characterized by chronic,

88 Patients with epidermolysis bullosa (EB) do not carry a significantly

89 Epidermolysis bullosa (EB) is a class of intractable, ra

90 Epidermolysis bullosa (EB) is a clinically and genetical

91 Epidermolysis bullosa (EB) is a group of autosomal domin

92 Epidermolysis bullosa (EB) is a group of genetic disorde

93 Epidermolysis bullosa (EB) is a group of mechanobullous

94 Hereditary epidermolysis bullosa (EB) is associated with skin blist

95 incidence and prevalence of each subtype of epidermolysis bullosa (EB) is essential before clinical

96 Epidermolysis bullosa (EB) pruriginosa is a rare variant

97 Epidermolysis bullosa (EB) simplex is a rare genetic con

98 Epidermolysis bullosa (EB) with late-onset muscular dyst

99 Epidermolysis bullosa (EB), a group of complex heritable

100 caries experience in the different types of epidermolysis bullosa (EB).

101 In a distinct autosomal recessive variant of epidermolysis bullosa, EB-MD, life-long skin blistering

102 gene for mutations in 22 Herlitz junctional epidermolysis bullosa families, and identified 15 distin

103 ne responses that may arise in patients with epidermolysis bullosa following BPAG2 gene replacement,

104 Generalized atrophic benign epidermolysis bullosa (GABEB) is a nonlethal variant of

105 Generalized atrophic benign epidermolysis bullosa, GABEB (OMIM# 226650), is a nonlet

106 rous sclerosis complex, and several forms of epidermolysis bullosa, genetic research has resulted in

107 The Herlitz type of junctional epidermolysis bullosa (H-JEB) is a severe blistering dis

108 the skin of patients with Herlitz junctional epidermolysis bullosa (H-JEB).

109 r systemic sclerosis or recessive dystrophic epidermolysis bullosa has led to the common finding of s

110 losa, a usually nonlethal form of junctional epidermolysis bullosa, have generalized blistering, nail

111 sease Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations i

112 g the manifestations of recessive dystrophic epidermolysis bullosa in humans.

113 The clinical phenotype of junctional epidermolysis bullosa in the proband in this family prob

114 hese results suggest that Herlitz junctional epidermolysis bullosa in this patient developed as a res

115 y in generalised severe recessive dystrophic epidermolysis bullosa, in which blood and marrow transpl

116 e cases of the nonlethal forms of junctional epidermolysis bullosa involving abnormalities in laminin

117 e cases of the nonlethal forms of junctional epidermolysis bullosa involving abnormalities in laminin

118 Recessive dystrophic epidermolysis bullosa is a devastating blistering diseas

119 Junctional epidermolysis bullosa is a group of hereditary bullous d

120 Epidermolysis bullosa is a group of heritable skin fragi

121 Herlitz junctional epidermolysis bullosa is a heritable bullous disease cau

122 Dystrophic epidermolysis bullosa is a heritable skin disease manife

123 Junctional epidermolysis bullosa is a heterogeneous autosomal reces

124 Epidermolysis bullosa is a heterogeneous group of herita

125 Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepide

126 Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucoc

127 Epidermolysis bullosa is caused by mutations in at least

128 inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen ge

129 Junctional forms of epidermolysis bullosa (JEB) are associated with mutation

130 Junctional epidermolysis bullosa (JEB) is a heterogeneous group of

131 Junctional epidermolysis bullosa (JEB) is an autosomal recessive di

132 Junctional epidermolysis bullosa (JEB) is an autosomal recessive sk

133 Junctional epidermolysis bullosa (JEB) is an inherited mechanobullo

134 The blistering disorder, lethal junctional epidermolysis bullosa (JEB), can result from mutations i

135 (GABEB) is a nonlethal variant of junctional epidermolysis bullosa (JEB).

136 In Herlitz junctional epidermolysis bullosa (laminin 5 abnormalities, n = 4) t

137 total number of distinct Herlitz junctional epidermolysis bullosa mutations in LAMB3 to 35.

138 patients with different forms of junctional epidermolysis bullosa (n = 13).

139 = 3) or with autosomal recessive dystrophic epidermolysis bullosa (n = 4) were included as controls.

140 1 of 150,000, severe generalized junctional epidermolysis bullosa occurred more often than published

141 Patients with generalized atrophic benign epidermolysis bullosa often show decreased expression of

142 BP), and absent in patients with one type of epidermolysis bullosa (OMIM #226650).

143 Herlitz junctional epidermolysis bullosa (OMIM#226700) is a lethal, autosom

144 ic DNA predicted severe recessive dystrophic epidermolysis bullosa or junctional epidermolysis bullos

145 cessive blistering skin disorder, junctional epidermolysis bullosa, particularly in the lethal (Herli

146 The recessive dystrophic epidermolysis bullosa patients had a homozygous single b

147 gh caries experience in recessive dystrophic epidermolysis bullosa patients is probably related to ot

148 he cDNA were detected, and in the junctional epidermolysis bullosa patients transcripts with in-frame

149 The junctional epidermolysis bullosa patients were compound heterozygot

150 ee techniques we have screened 93 dystrophic epidermolysis bullosa patients yielding an overall sensi

151 Findings in recessive dystrophic epidermolysis bullosa patients' skin were indistinguisha

152 In the recessive dystrophic epidermolysis bullosa patients, transcripts containing i

153 otal of 50 dominant and recessive dystrophic epidermolysis bullosa patients.

154 strophic epidermolysis bullosa or junctional epidermolysis bullosa phenotypes but in whom the manifes

155 trophic epidermolysis bullosa and junctional epidermolysis bullosa phenotypes in these families, reve

156 New epidermolysis bullosa phenotypes, genotypes and modes of

157 ts with the distinctive clinical features of epidermolysis bullosa pruriginosa is heterogeneous and s

158 OL7A1 mutation(s), may be responsible for an epidermolysis bullosa pruriginosa phenotype.

159 a distinct clinical subtype of this disease, epidermolysis bullosa pruriginosa, characterized by prur

160 ytes from patients with recessive dystrophic epidermolysis bullosa (RDEB) and normal dermal fibroblas

161 skin blistering disease recessive dystrophic epidermolysis bullosa (RDEB) develop aggressive cutaneou

162 Recessive dystrophic epidermolysis bullosa (RDEB) is a complex inherited skin

163 Importance: Recessive dystrophic epidermolysis bullosa (RDEB) is a devastating, often fat

164 The recessive dystrophic form of epidermolysis bullosa (RDEB) is a disorder of incurable

165 Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic skin fragility

166 Recessive dystrophic epidermolysis bullosa (RDEB) is a rare condition in whic

167 Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blister

168 Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin-

169 Recessive dystrophic epidermolysis bullosa (RDEB) is an autosomal recessive d

170 Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease cau

171 Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering

172 Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited disorder ch

173 Recessive dystrophic epidermolysis bullosa (RDEB) is caused by defects of typ

174 Recessive dystrophic epidermolysis bullosa (RDEB) is caused by defects of typ

175 ted in vivo utilizing a recessive dystrophic epidermolysis bullosa (RDEB) knockout mouse model.

176 t that individuals with recessive dystrophic epidermolysis bullosa (RDEB) only develop squamous-cell

177 agility disorder coined recessive dystrophic epidermolysis bullosa (RDEB) that is associated with a c

178 plored their utility in recessive dystrophic epidermolysis bullosa (RDEB), a blistering disease due t

179 collagen defects cause recessive dystrophic epidermolysis bullosa (RDEB), a blistering skin disorder

180 s of severe generalized recessive dystrophic epidermolysis bullosa (RDEB), a currently incurable blis

181 Individuals with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin diseas

182 currently available for recessive dystrophic epidermolysis bullosa (RDEB), a severe heritable blister

183 listering skin disorder recessive dystrophic epidermolysis bullosa (RDEB), caused by mutations in the

184 in patients affected by recessive dystrophic epidermolysis bullosa (RDEB).

185 ion in individuals with recessive dystrophic epidermolysis bullosa (RDEB).

186 rm of the skin blistering disease dystrophic epidermolysis bullosa (RDEB).

187 unrelated families with recessive dystrophic epidermolysis bullosa (RDEB).

188 ients consecutively enrolled in the National Epidermolysis Bullosa Registry from January 1, 1986, thr

189 forms of recessive dystrophic or junctional epidermolysis bullosa, respectively.

190 yses have revealed that recessive dystrophic epidermolysis bullosa results from mutations in the type

191 ng the complete set of genes associated with epidermolysis bullosa revealed a homozygous nonsense mut

192 Through studies that began with epidermolysis bullosa simplex (EBS) and now extend to a

193 Epidermolysis bullosa simplex (EBS) is a group of autoso

194 Importance: Epidermolysis bullosa simplex (EBS) is a group of clinic

195 Epidermolysis bullosa simplex (EBS) is a mechano-bullous

196 Epidermolysis bullosa simplex (EBS) is a rare genetic co

197 Epidermolysis bullosa simplex (EBS) is a rare inherited

198 Epidermolysis bullosa simplex (EBS) is an incurable, inh

199 Epidermolysis bullosa simplex (EBS) is an inherited skin

200 The blistering skin disorder epidermolysis bullosa simplex (EBS) results from dominan

201 Mutations in K5 or K14 genes cause epidermolysis bullosa simplex (EBS), a disorder with bli

202 The best-studied skin fragility disorder is epidermolysis bullosa simplex (EBS), an autosomal domina

203 One such disease is epidermolysis bullosa simplex (EBS), caused by mutations

204 ins keratin 5 (K5) or keratin 14 (K14) cause epidermolysis bullosa simplex (EBS), in which basal laye

205 junctions (NMJs) in patients suffering from epidermolysis bullosa simplex (EBS)-muscular dystrophy (

206 ns 5 or 14 are implicated in the etiology of epidermolysis bullosa simplex (EBS).

207 The Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) is a severe blist

208 d in skin lead to human disorders, including epidermolysis bullosa simplex and epidermolytic hyperker

209 Epidermolysis bullosa simplex are dominant disorders of

210 Epidermolysis bullosa simplex associated with late-onset

211 In epidermolysis bullosa simplex associated with plectin mu

212 Epidermolysis bullosa simplex Dowling-Meara (MIM# 131760

213 dy we sequenced these genes in a family with epidermolysis bullosa simplex Dowling-Meara.

214 e K5 head domain residue T150 in cytoplasmic epidermolysis bullosa simplex granules containing R125C

215 The severe Dowling-Meara form of epidermolysis bullosa simplex is caused by dominant-nega

216 istic feature of the skin blistering disease epidermolysis bullosa simplex is keratin filament (KF) n

217 rmation and function with a possible role in epidermolysis bullosa simplex pathogenesis.

218 This is the second epidermolysis bullosa simplex patient reported with a pr

219 We report an epidermolysis bullosa simplex patient with a novel singl

220 Mutations in epidermolysis bullosa simplex patients could interfere w

221 common mutation in the Dowling-Meara form of epidermolysis bullosa simplex patients is the missense m

222 models that more faithfully recapitulate the epidermolysis bullosa simplex phenotype, is advisable be

223 the palmoplantar distribution seen in other epidermolysis bullosa simplex subtypes, extensive herpet

224 7600) is the most severe of the three common epidermolysis bullosa simplex subtypes.

225 plantation could be applied to patients with epidermolysis bullosa simplex with intraepidermal bliste

226 utation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate e

227 everal distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation

228 ents suffering from plectinopathy-associated epidermolysis bullosa simplex with muscular dystrophy (E

229 skin from patients with autosomal recessive epidermolysis bullosa simplex with plectin defects (n =

230 r dystrophy associated with skin blistering (epidermolysis bullosa simplex).

231 ing disorders, epidermolytic hyperkeratosis, epidermolysis bullosa simplex, epidermolytic palmoplanta

232 To date, mutant-specific siRNAs for epidermolysis bullosa simplex, pachyonychia congenita an

233 cal vitelliform macular dystrophy (VMD1) and epidermolysis bullosa simplex, type Ogna (EBS1).

234 e motif have been described in patients with epidermolysis bullosa simplex.

235 al trials of bone marrow transplantation for epidermolysis bullosa simplex.

236 vidence of phenotype-genotype correlation in epidermolysis bullosa simplex.

237 mutations in either of these genes can cause epidermolysis bullosa simplex.

238 g seen in the genetic disorder Dowling-Meara epidermolysis bullosa simplex.

239 eness of squamous cell carcinomas arising in epidermolysis bullosa skin.

240 s the limitations in predicting phenotype in epidermolysis bullosa solely based on mutation analysis

241 cutaneous complications in each of the major epidermolysis bullosa subtypes.

242 of COL17A1 disease from autosomal recessive epidermolysis bullosa to autosomal dominant ERED and ide

243 patients with severe generalized junctional epidermolysis bullosa treated with allogeneic stem cell

244 patients with nonlethal forms of junctional epidermolysis bullosa using polymerase chain reaction am

245 patients with nonlethal forms of junctional epidermolysis bullosa using polymerase chain reaction am

246 osa, a distinct nonlethal form of junctional epidermolysis bullosa, using polymerase chain reaction a

247 layed the milder generalized atrophic benign epidermolysis bullosa variant.

248 lysis bullosa and all variants of junctional epidermolysis bullosa was calculated to be one in 781 an

249 that is associated with recessive dystrophic epidermolysis bullosa, was unable to form antiparallel d

250 iously disclosed in patients with dystrophic epidermolysis bullosa, we studied how these amino acid s

251 an families with generalized atrophic benign epidermolysis bullosa who share the same COL17A1 mutatio

252 riasis, infantile hemangiomas and dystrophic epidermolysis bullosa will be discussed.

253 EB (OMIM# 226650), is a nonlethal variant of epidermolysis bullosa with autosomal recessive inheritan

254 monstrated in patients with a lethal form of epidermolysis bullosa with congenital pyloric atresia (O

255 me ITGB4 mutations in nonlethal phenotype of epidermolysis bullosa with congenital pyloric atresia.

256 Junctional epidermolysis bullosa with congenital pyloric or duodena

257 seven children who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemother

258 The human autosomal recessive disorder epidermolysis bullosa with muscular dystrophy (MD-EBS) s

259 In junctional epidermolysis bullosa with pyloric atresia (alpha6beta4

260 Epidermolysis bullosa with pyloric atresia (EB-PA), an a

261 Epidermolysis bullosa with pyloric atresia (EB-PA), mani

262 Epidermolysis bullosa with pyloric atresia (EB-PA; OMIM

263 Immunofluorescence studies of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) have

264 rome resembling the human disease junctional epidermolysis bullosa with pyloric atresia (PA-JEB).

265 e report a patient with a form of junctional epidermolysis bullosa with skin fragility and dental ano

266 ave been published in the field of inherited epidermolysis bullosa within the past few years.

267 13 patients with severe recessive dystrophic epidermolysis bullosa yielding a detection sensitivity o