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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
13 gene COL7A1 encoding for C7 cause dystrophic epidermolysis bullosa (DEB), a genetic mechano-bullous d
27 incidence and prevalence of each subtype of epidermolysis bullosa (EB) is essential before clinical
33 s with the inherited skin-blistering disease epidermolysis bullosa (EB), we show that large numbers o
39 sease Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations i
45 The blistering disorder, lethal junctional epidermolysis bullosa (JEB), can result from mutations i
49 = 3) or with autosomal recessive dystrophic epidermolysis bullosa (n = 4) were included as controls.
52 ytes from patients with recessive dystrophic epidermolysis bullosa (RDEB) and normal dermal fibroblas
53 skin blistering disease recessive dystrophic epidermolysis bullosa (RDEB) develop aggressive cutaneou
69 t that individuals with recessive dystrophic epidermolysis bullosa (RDEB) only develop squamous-cell
70 agility disorder coined recessive dystrophic epidermolysis bullosa (RDEB) that is associated with a c
71 plored their utility in recessive dystrophic epidermolysis bullosa (RDEB), a blistering disease due t
72 collagen defects cause recessive dystrophic epidermolysis bullosa (RDEB), a blistering skin disorder
73 s of severe generalized recessive dystrophic epidermolysis bullosa (RDEB), a currently incurable blis
75 currently available for recessive dystrophic epidermolysis bullosa (RDEB), a severe heritable blister
76 listering skin disorder recessive dystrophic epidermolysis bullosa (RDEB), caused by mutations in the
77 blistering skin disease recessive dystrophic epidermolysis bullosa (RDEB), which is characterized by
93 d against tissue destruction in experimental epidermolysis bullosa acquisita (EBA), an AIBD caused by
94 flammation, we employed immunization-induced epidermolysis bullosa acquisita (EBA), an autoimmune bul
96 mice that mimic those seen in patients with epidermolysis bullosa acquisita (see the related article
97 evelopment of new therapeutic strategies for epidermolysis bullosa acquisita and related autoimmune d
99 ought to determine if type VII collagen, the epidermolysis bullosa acquisita autoantigen, was present
100 ction crystallizable glycosylation in murine epidermolysis bullosa acquisita in congenic mouse strain
105 immunofluorescence microscopy, not diagnosed epidermolysis bullosa acquisita or anti-laminin-332 muco
108 -145, were applied to mice with experimental epidermolysis bullosa acquisita, an autoimmune bullous d
109 Systemic diseases are often associated with epidermolysis bullosa acquisita, Crohn's disease being t
110 igus vulgaris/foliaceus, bullous pemphigoid, epidermolysis bullosa acquisita, mucous membrane pemphig
113 e skin of children with recessive dystrophic epidermolysis bullosa after allogeneic bone marrow trans
114 pulation carrier risk for Herlitz junctional epidermolysis bullosa and all variants of junctional epi
115 COL7A1 mutations in patients with dystrophic epidermolysis bullosa and compared them with an establis
116 To explain the milder recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullo
118 ies underlying different forms of junctional epidermolysis bullosa appear to affect certain critical
121 s did not have the lethal form of junctional epidermolysis bullosa but, as adults, displayed the mild
122 Treatment of severe generalized junctional epidermolysis bullosa by SCT is a last-ditch attempt sti
123 cells of patients with recessive dystrophic epidermolysis bullosa can be corrected by homology-direc
124 ibrils in patients with recessive dystrophic epidermolysis bullosa can be morphologically altered, re
125 one in 350, respectively, while the overall epidermolysis bullosa carrier frequency was calculated t
126 ement or cell-based therapies for dystrophic epidermolysis bullosa caused by genetic deficiency of co
127 study was performed from 2003 to 2023 at the Epidermolysis Bullosa Centre, University of Freiburg, Ge
128 teeth from patients suffering from recessive epidermolysis bullosa dystrophica (rEBD) in terms of its
129 gene for mutations in 22 Herlitz junctional epidermolysis bullosa families, and identified 15 distin
130 ne responses that may arise in patients with epidermolysis bullosa following BPAG2 gene replacement,
131 r systemic sclerosis or recessive dystrophic epidermolysis bullosa has led to the common finding of s
134 hese results suggest that Herlitz junctional epidermolysis bullosa in this patient developed as a res
135 e cases of the nonlethal forms of junctional epidermolysis bullosa involving abnormalities in laminin
136 e cases of the nonlethal forms of junctional epidermolysis bullosa involving abnormalities in laminin
152 1 of 150,000, severe generalized junctional epidermolysis bullosa occurred more often than published
153 Patients with generalized atrophic benign epidermolysis bullosa often show decreased expression of
154 ic DNA predicted severe recessive dystrophic epidermolysis bullosa or junctional epidermolysis bullos
157 gh caries experience in recessive dystrophic epidermolysis bullosa patients is probably related to ot
158 he cDNA were detected, and in the junctional epidermolysis bullosa patients transcripts with in-frame
160 ee techniques we have screened 93 dystrophic epidermolysis bullosa patients yielding an overall sensi
164 strophic epidermolysis bullosa or junctional epidermolysis bullosa phenotypes but in whom the manifes
165 trophic epidermolysis bullosa and junctional epidermolysis bullosa phenotypes in these families, reve
168 ts with the distinctive clinical features of epidermolysis bullosa pruriginosa is heterogeneous and s
170 a distinct clinical subtype of this disease, epidermolysis bullosa pruriginosa, characterized by prur
171 ients consecutively enrolled in the National Epidermolysis Bullosa Registry from January 1, 1986, thr
172 nomic evaluation used data from the National Epidermolysis Bullosa Registry to estimate the current p
173 yses have revealed that recessive dystrophic epidermolysis bullosa results from mutations in the type
174 ng the complete set of genes associated with epidermolysis bullosa revealed a homozygous nonsense mut
186 The best-studied skin fragility disorder is epidermolysis bullosa simplex (EBS), an autosomal domina
188 ins keratin 5 (K5) or keratin 14 (K14) cause epidermolysis bullosa simplex (EBS), in which basal laye
189 junctions (NMJs) in patients suffering from epidermolysis bullosa simplex (EBS)-muscular dystrophy (
192 athy type VI (caused by a loss of DST-a) and Epidermolysis bullosa simplex 3 (caused by a loss of DST
193 d in skin lead to human disorders, including epidermolysis bullosa simplex and epidermolytic hyperker
199 e K5 head domain residue T150 in cytoplasmic epidermolysis bullosa simplex granules containing R125C
201 istic feature of the skin blistering disease epidermolysis bullosa simplex is keratin filament (KF) n
206 common mutation in the Dowling-Meara form of epidermolysis bullosa simplex patients is the missense m
207 models that more faithfully recapitulate the epidermolysis bullosa simplex phenotype, is advisable be
208 the palmoplantar distribution seen in other epidermolysis bullosa simplex subtypes, extensive herpet
210 plantation could be applied to patients with epidermolysis bullosa simplex with intraepidermal bliste
211 utation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate e
212 everal distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation
213 ents suffering from plectinopathy-associated epidermolysis bullosa simplex with muscular dystrophy (E
214 skin from patients with autosomal recessive epidermolysis bullosa simplex with plectin defects (n =
216 ing disorders, epidermolytic hyperkeratosis, epidermolysis bullosa simplex, epidermolytic palmoplanta
226 s the limitations in predicting phenotype in epidermolysis bullosa solely based on mutation analysis
228 of COL17A1 disease from autosomal recessive epidermolysis bullosa to autosomal dominant ERED and ide
229 patients with severe generalized junctional epidermolysis bullosa treated with allogeneic stem cell
230 patients with nonlethal forms of junctional epidermolysis bullosa using polymerase chain reaction am
231 patients with nonlethal forms of junctional epidermolysis bullosa using polymerase chain reaction am
233 lysis bullosa and all variants of junctional epidermolysis bullosa was calculated to be one in 781 an
234 t 3 and 6 months in patients with dystrophic epidermolysis bullosa was more likely with topical admin
236 an families with generalized atrophic benign epidermolysis bullosa who share the same COL17A1 mutatio
238 EB (OMIM# 226650), is a nonlethal variant of epidermolysis bullosa with autosomal recessive inheritan
239 monstrated in patients with a lethal form of epidermolysis bullosa with congenital pyloric atresia (O
240 me ITGB4 mutations in nonlethal phenotype of epidermolysis bullosa with congenital pyloric atresia.
242 seven children who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemother
248 Immunofluorescence studies of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) have
249 rome resembling the human disease junctional epidermolysis bullosa with pyloric atresia (PA-JEB).
250 e report a patient with a form of junctional epidermolysis bullosa with skin fragility and dental ano
252 13 patients with severe recessive dystrophic epidermolysis bullosa yielding a detection sensitivity o
253 umours of patients with Recessive Dystrophic Epidermolysis Bullosa, a disease characterized by chroni
254 an pedigree with generalized atrophic benign epidermolysis bullosa, a distinct nonlethal form of junc
256 Patients with generalized atrophic benign epidermolysis bullosa, a usually nonlethal form of junct
257 ing the role of alpha 6 beta 4 in junctional epidermolysis bullosa, an often lethal human disorder wi
258 n a patient with generalized atrophic benign epidermolysis bullosa, and applies a new methodology to
259 is, similar to that seen in human junctional epidermolysis bullosa, and death occurs within a few day
260 molytic palmoplantar keratoderma, junctional epidermolysis bullosa, and dystrophic forms of epidermol
261 ants causing AI in the absence of junctional epidermolysis bullosa, and highlights the shared AI phen
262 helming majority of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian
263 e prototypic heritable blistering disorders, epidermolysis bullosa, and related keratinopathies, in w
264 there is no effective treatment or cure for epidermolysis bullosa, but bone marrow transplantation h
265 variants in LAMB3 cause recessive junctional epidermolysis bullosa, characterized by life-threatening
266 In a distinct autosomal recessive variant of epidermolysis bullosa, EB-MD, life-long skin blistering
268 rous sclerosis complex, and several forms of epidermolysis bullosa, genetic research has resulted in
269 losa, a usually nonlethal form of junctional epidermolysis bullosa, have generalized blistering, nail
270 y in generalised severe recessive dystrophic epidermolysis bullosa, in which blood and marrow transpl
271 inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen ge
272 cessive blistering skin disorder, junctional epidermolysis bullosa, particularly in the lethal (Herli
274 osa, a distinct nonlethal form of junctional epidermolysis bullosa, using polymerase chain reaction a
275 that is associated with recessive dystrophic epidermolysis bullosa, was unable to form antiparallel d
276 iously disclosed in patients with dystrophic epidermolysis bullosa, we studied how these amino acid s
277 sive cSCCs (n = 71) and recessive dystrophic epidermolysis bullosa-associated cSCCs (n = 11) than in
300 fected individuals displayed only mild focal epidermolysis in the spinous layer of palmoplantar epide