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1 ular and clinical phenotype of patients with 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 ntified as the candidate gene for dystrophic epidermolysis bullosa.
6 tended family members at risk for junctional epidermolysis bullosa.
7 e to the blistering skin disease, dystrophic epidermolysis bullosa.
8 l junction, diagnostic of Herlitz junctional epidermolysis bullosa.
9 nts with the recessive dystrophic subtype of epidermolysis bullosa.
10 ocyte integrity and resilience in junctional epidermolysis bullosa.
11 idesmosomes was also perturbed in junctional epidermolysis bullosa.
12 c with other variants of dominant dystrophic epidermolysis bullosa.
13 occurs in some blistering disorders such as epidermolysis bullosa.
14 idermolysis bullosa, and dystrophic forms of epidermolysis bullosa.
15 in for mutations in some forms of junctional epidermolysis bullosa.
16 is a clinical variant of dominant dystrophic epidermolysis bullosa.
17 en gene (COL7A1) in patients with dystrophic epidermolysis bullosa.
18 tic syndrome, interstitial lung disease, and epidermolysis bullosa.
19 d bone marrow transplantation for dystrophic epidermolysis bullosa.
20 f gene therapy for junctional and dystrophic epidermolysis bullosa.
21 in of two patients with recessive dystrophic epidermolysis bullosa.
22 ative medicine to cutaneous diseases such as epidermolysis bullosa.
23 umours of patients with Recessive Dystrophic Epidermolysis Bullosa, a disease characterized by chroni
24 an pedigree with generalized atrophic benign epidermolysis bullosa, a distinct nonlethal form of junc
26 Patients with generalized atrophic benign epidermolysis bullosa, a usually nonlethal form of junct
37 d against tissue destruction in experimental epidermolysis bullosa acquisita (EBA), an AIBD caused by
38 flammation, we employed immunization-induced epidermolysis bullosa acquisita (EBA), an autoimmune bul
40 mice that mimic those seen in patients with epidermolysis bullosa acquisita (see the related article
41 evelopment of new therapeutic strategies for epidermolysis bullosa acquisita and related autoimmune d
43 ought to determine if type VII collagen, the epidermolysis bullosa acquisita autoantigen, was present
44 ction crystallizable glycosylation in murine epidermolysis bullosa acquisita in congenic mouse strain
49 immunofluorescence microscopy, not diagnosed epidermolysis bullosa acquisita or anti-laminin-332 muco
52 -145, were applied to mice with experimental epidermolysis bullosa acquisita, an autoimmune bullous d
53 Systemic diseases are often associated with epidermolysis bullosa acquisita, Crohn's disease being t
54 igus vulgaris/foliaceus, bullous pemphigoid, epidermolysis bullosa acquisita, mucous membrane pemphig
57 e skin of children with recessive dystrophic epidermolysis bullosa after allogeneic bone marrow trans
58 ing the role of alpha 6 beta 4 in junctional epidermolysis bullosa, an often lethal human disorder wi
59 pulation carrier risk for Herlitz junctional epidermolysis bullosa and all variants of junctional epi
60 COL7A1 mutations in patients with dystrophic epidermolysis bullosa and compared them with an establis
61 To explain the milder recessive dystrophic epidermolysis bullosa and junctional epidermolysis bullo
63 n a patient with generalized atrophic benign epidermolysis bullosa, and applies a new methodology to
64 is, similar to that seen in human junctional epidermolysis bullosa, and death occurs within a few day
65 molytic palmoplantar keratoderma, junctional epidermolysis bullosa, and dystrophic forms of epidermol
66 ants causing AI in the absence of junctional epidermolysis bullosa, and highlights the shared AI phen
67 helming majority of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian
68 e prototypic heritable blistering disorders, epidermolysis bullosa, and related keratinopathies, in w
69 ies underlying different forms of junctional epidermolysis bullosa appear to affect certain critical
71 sive cSCCs (n = 71) and recessive dystrophic epidermolysis bullosa-associated cSCCs (n = 11) than in
73 s did not have the lethal form of junctional epidermolysis bullosa but, as adults, displayed the mild
74 there is no effective treatment or cure for epidermolysis bullosa, but bone marrow transplantation h
75 Treatment of severe generalized junctional epidermolysis bullosa by SCT is a last-ditch attempt sti
76 cells of patients with recessive dystrophic epidermolysis bullosa can be corrected by homology-direc
77 ibrils in patients with recessive dystrophic epidermolysis bullosa can be morphologically altered, re
78 one in 350, respectively, while the overall epidermolysis bullosa carrier frequency was calculated t
79 ement or cell-based therapies for dystrophic epidermolysis bullosa caused by genetic deficiency of co
80 study was performed from 2003 to 2023 at the Epidermolysis Bullosa Centre, University of Freiburg, Ge
81 variants in LAMB3 cause recessive junctional epidermolysis bullosa, characterized by life-threatening
82 EB) and recessive (RDEB) forms of dystrophic epidermolysis bullosa (DEB) and have subsequently identi
92 gene COL7A1 encoding for C7 cause dystrophic epidermolysis bullosa (DEB), a genetic mechano-bullous d
96 teeth from patients suffering from recessive epidermolysis bullosa dystrophica (rEBD) in terms of its
107 incidence and prevalence of each subtype of epidermolysis bullosa (EB) is essential before clinical
108 anel of well-characterized plasma samples of epidermolysis bullosa (EB) patients suffering from (chro
114 s with the inherited skin-blistering disease epidermolysis bullosa (EB), we show that large numbers o
117 In a distinct autosomal recessive variant of epidermolysis bullosa, EB-MD, life-long skin blistering
118 gene for mutations in 22 Herlitz junctional epidermolysis bullosa families, and identified 15 distin
119 ne responses that may arise in patients with epidermolysis bullosa following BPAG2 gene replacement,
122 rous sclerosis complex, and several forms of epidermolysis bullosa, genetic research has resulted in
125 r systemic sclerosis or recessive dystrophic epidermolysis bullosa has led to the common finding of s
126 losa, a usually nonlethal form of junctional epidermolysis bullosa, have generalized blistering, nail
127 sease Hallopeau-Siemens recessive dystrophic epidermolysis bullosa (HS-RDEB) results from mutations i
130 hese results suggest that Herlitz junctional epidermolysis bullosa in this patient developed as a res
131 y in generalised severe recessive dystrophic epidermolysis bullosa, in which blood and marrow transpl
132 e cases of the nonlethal forms of junctional epidermolysis bullosa involving abnormalities in laminin
133 e cases of the nonlethal forms of junctional epidermolysis bullosa involving abnormalities in laminin
148 inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen ge
154 The blistering disorder, lethal junctional epidermolysis bullosa (JEB), can result from mutations i
159 = 3) or with autosomal recessive dystrophic epidermolysis bullosa (n = 4) were included as controls.
160 1 of 150,000, severe generalized junctional epidermolysis bullosa occurred more often than published
161 Patients with generalized atrophic benign epidermolysis bullosa often show decreased expression of
164 ic DNA predicted severe recessive dystrophic epidermolysis bullosa or junctional epidermolysis bullos
165 cessive blistering skin disorder, junctional epidermolysis bullosa, particularly in the lethal (Herli
168 gh caries experience in recessive dystrophic epidermolysis bullosa patients is probably related to ot
169 he cDNA were detected, and in the junctional epidermolysis bullosa patients transcripts with in-frame
171 ee techniques we have screened 93 dystrophic epidermolysis bullosa patients yielding an overall sensi
175 strophic epidermolysis bullosa or junctional epidermolysis bullosa phenotypes but in whom the manifes
176 trophic epidermolysis bullosa and junctional epidermolysis bullosa phenotypes in these families, reve
179 ts with the distinctive clinical features of epidermolysis bullosa pruriginosa is heterogeneous and s
181 a distinct clinical subtype of this disease, epidermolysis bullosa pruriginosa, characterized by prur
182 ytes from patients with recessive dystrophic epidermolysis bullosa (RDEB) and normal dermal fibroblas
183 skin blistering disease recessive dystrophic epidermolysis bullosa (RDEB) develop aggressive cutaneou
199 t that individuals with recessive dystrophic epidermolysis bullosa (RDEB) only develop squamous-cell
200 agility disorder coined recessive dystrophic epidermolysis bullosa (RDEB) that is associated with a c
201 plored their utility in recessive dystrophic epidermolysis bullosa (RDEB), a blistering disease due t
202 collagen defects cause recessive dystrophic epidermolysis bullosa (RDEB), a blistering skin disorder
203 s of severe generalized recessive dystrophic epidermolysis bullosa (RDEB), a currently incurable blis
205 currently available for recessive dystrophic epidermolysis bullosa (RDEB), a severe heritable blister
206 listering skin disorder recessive dystrophic epidermolysis bullosa (RDEB), caused by mutations in the
207 blistering skin disease recessive dystrophic epidermolysis bullosa (RDEB), which is characterized by
213 ients consecutively enrolled in the National Epidermolysis Bullosa Registry from January 1, 1986, thr
214 nomic evaluation used data from the National Epidermolysis Bullosa Registry to estimate the current p
216 yses have revealed that recessive dystrophic epidermolysis bullosa results from mutations in the type
217 ng the complete set of genes associated with epidermolysis bullosa revealed a homozygous nonsense mut
230 The best-studied skin fragility disorder is epidermolysis bullosa simplex (EBS), an autosomal domina
232 ins keratin 5 (K5) or keratin 14 (K14) cause epidermolysis bullosa simplex (EBS), in which basal laye
233 junctions (NMJs) in patients suffering from epidermolysis bullosa simplex (EBS)-muscular dystrophy (
236 athy type VI (caused by a loss of DST-a) and Epidermolysis bullosa simplex 3 (caused by a loss of DST
237 d in skin lead to human disorders, including epidermolysis bullosa simplex and epidermolytic hyperker
243 e K5 head domain residue T150 in cytoplasmic epidermolysis bullosa simplex granules containing R125C
245 istic feature of the skin blistering disease epidermolysis bullosa simplex is keratin filament (KF) n
250 common mutation in the Dowling-Meara form of epidermolysis bullosa simplex patients is the missense m
251 models that more faithfully recapitulate the epidermolysis bullosa simplex phenotype, is advisable be
252 the palmoplantar distribution seen in other epidermolysis bullosa simplex subtypes, extensive herpet
254 plantation could be applied to patients with epidermolysis bullosa simplex with intraepidermal bliste
255 utation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate e
256 everal distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation
258 ents suffering from plectinopathy-associated epidermolysis bullosa simplex with muscular dystrophy (E
259 skin from patients with autosomal recessive epidermolysis bullosa simplex with plectin defects (n =
261 ing disorders, epidermolytic hyperkeratosis, epidermolysis bullosa simplex, epidermolytic palmoplanta
271 s the limitations in predicting phenotype in epidermolysis bullosa solely based on mutation analysis
273 of COL17A1 disease from autosomal recessive epidermolysis bullosa to autosomal dominant ERED and ide
274 patients with severe generalized junctional epidermolysis bullosa treated with allogeneic stem cell
275 patients with nonlethal forms of junctional epidermolysis bullosa using polymerase chain reaction am
276 patients with nonlethal forms of junctional epidermolysis bullosa using polymerase chain reaction am
277 osa, a distinct nonlethal form of junctional epidermolysis bullosa, using polymerase chain reaction a
279 lysis bullosa and all variants of junctional epidermolysis bullosa was calculated to be one in 781 an
280 t 3 and 6 months in patients with dystrophic epidermolysis bullosa was more likely with topical admin
281 that is associated with recessive dystrophic epidermolysis bullosa, was unable to form antiparallel d
282 iously disclosed in patients with dystrophic epidermolysis bullosa, we studied how these amino acid s
284 an families with generalized atrophic benign epidermolysis bullosa who share the same COL17A1 mutatio
286 EB (OMIM# 226650), is a nonlethal variant of epidermolysis bullosa with autosomal recessive inheritan
287 monstrated in patients with a lethal form of epidermolysis bullosa with congenital pyloric atresia (O
288 me ITGB4 mutations in nonlethal phenotype of epidermolysis bullosa with congenital pyloric atresia.
290 seven children who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemother
296 Immunofluorescence studies of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) have
297 rome resembling the human disease junctional epidermolysis bullosa with pyloric atresia (PA-JEB).
298 e report a patient with a form of junctional epidermolysis bullosa with skin fragility and dental ano
300 13 patients with severe recessive dystrophic epidermolysis bullosa yielding a detection sensitivity o