ライフサイエンスコーパス: epidermolysis

1 mutations, which show widespread and severe epidermolysis.

2 paired hemidesmosome formation in junctional epidermolysis associated with pyloric atresia/beta4 kera

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

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

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

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

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

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

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

10 Dystrophic epidermolysis bullosa (DEB) is an inherited mechanobullo

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

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

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

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

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

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

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

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

19 Epidermolysis bullosa (EB) is a clinically and genetical

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

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

22 Epidermolysis bullosa (EB) is a group of mechanobullous

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

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

25 Epidermolysis bullosa (EB) pruriginosa is a rare variant

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

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

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

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

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

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

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

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

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

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

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

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

38 Junctional epidermolysis bullosa (JEB) is an inherited mechanobullo

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

74 Epidermolysis bullosa acquisita (EBA) is a chronic mucoc

75 Epidermolysis bullosa acquisita (EBA) is a prototypic or

76 Epidermolysis bullosa acquisita (EBA) is an acquired bli

77 Epidermolysis bullosa acquisita (EBA) is an acquired bul

78 Epidermolysis bullosa acquisita (EBA) is an AIBD associa

79 Epidermolysis bullosa acquisita (EBA) is an autoimmune b

80 Epidermolysis bullosa acquisita (EBA) is an autoimmune b

81 Epidermolysis bullosa acquisita (EBA) is an autoimmune b

82 Epidermolysis bullosa acquisita (EBA) is an autoimmune s

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

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

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

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

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

88 Epidermolysis bullosa acquisita autoantibodies bound to

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

90 Epidermolysis bullosa acquisita is a subepidermal bliste

91 Epidermolysis bullosa acquisita is an autoimmune blister

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

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

94 IgG from an epidermolysis bullosa acquisita serum containing autoant

95 -145, were applied to mice with experimental epidermolysis bullosa acquisita, an autoimmune bullous d

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

123 Recessive dystrophic epidermolysis bullosa is a devastating blistering diseas

124 Junctional epidermolysis bullosa is a group of hereditary bullous d

125 Epidermolysis bullosa is a group of heritable skin fragi

126 Herlitz junctional epidermolysis bullosa is a heritable bullous disease cau

127 Dystrophic epidermolysis bullosa is a heritable skin disease manife

128 Junctional epidermolysis bullosa is a heterogeneous autosomal reces

129 Epidermolysis bullosa is a heterogeneous group of herita

130 Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepide

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

132 Epidermolysis bullosa is caused by mutations in at least

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

134 1 of 150,000, severe generalized junctional epidermolysis bullosa occurred more often than published

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

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

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

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

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

140 The junctional epidermolysis bullosa patients were compound heterozygot

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

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

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

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

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

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

147 New epidermolysis bullosa phenotypes, genotypes and modes of

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

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

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

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

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

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

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

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

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

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

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

159 Epidermolysis bullosa simplex (EBS) is a rare inherited

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

161 Epidermolysis bullosa simplex (EBS) is an inherited skin

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

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

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

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

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

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

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

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

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

171 Epidermolysis bullosa simplex are dominant disorders of

172 Epidermolysis bullosa simplex associated with late-onset

173 In epidermolysis bullosa simplex associated with plectin mu

174 Epidermolysis bullosa simplex Dowling-Meara (MIM# 131760

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

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

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

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

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

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

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

182 Mutations in epidermolysis bullosa simplex patients could interfere w

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

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

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

186 7600) is the most severe of the three common epidermolysis bullosa simplex subtypes.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

208 layed the milder generalized atrophic benign epidermolysis bullosa variant.

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

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

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

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

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

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

215 Junctional epidermolysis bullosa with congenital pyloric or duodena

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

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

218 In junctional epidermolysis bullosa with pyloric atresia (alpha6beta4

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

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

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

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

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

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

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

226 13 patients with severe recessive dystrophic epidermolysis bullosa yielding a detection sensitivity o

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

250 ntified as the candidate gene for dystrophic epidermolysis bullosa.

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

252 skin blistering disorder Herlitz junctional epidermolysis bullosa.

253 o the chronic blistering disease, dystrophic epidermolysis bullosa.

254 tended family members at risk for junctional epidermolysis bullosa.

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

256 l junction, diagnostic of Herlitz junctional epidermolysis bullosa.

257 ocyte integrity and resilience in junctional epidermolysis bullosa.

258 idesmosomes was also perturbed in junctional epidermolysis bullosa.

259 c with other variants of dominant dystrophic epidermolysis bullosa.

260 occurs in some blistering disorders such as epidermolysis bullosa.

261 idermolysis bullosa, and dystrophic forms of epidermolysis bullosa.

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

263 is a clinical variant of dominant dystrophic epidermolysis bullosa.

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

265 nts with the recessive dystrophic subtype of epidermolysis bullosa.

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

267 d bone marrow transplantation for dystrophic epidermolysis bullosa.

268 in of two patients with recessive dystrophic epidermolysis bullosa.

269 ative medicine to cutaneous diseases such as epidermolysis bullosa.

270 fected individuals displayed only mild focal epidermolysis in the spinous layer of palmoplantar epide