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1 of beta1-integrin underlies Kindler syndrome skin fragility.
2 ques and clinical features of trauma-induced skin fragility.
3 recessive dystrophic EB, with improvement in skin fragility.
4  and cytoskeleton organization, resulting in skin fragility.
5 develop normally and do not display signs of skin fragility.
6 by pruritus, excoriated prurigo nodules, and skin fragility.
7 N-proteinase and is characterised by extreme skin fragility.
8 e genetic disorders characterized by extreme skin fragility.
9 s bullosa, characterized by life-threatening skin fragility.
10 zed by nail dystrophy and late onset of mild skin fragility and acral blistering.
11 is bullosa (RDEB) is a disorder of incurable skin fragility and blistering caused by mutations in the
12 orm of junctional epidermolysis bullosa with skin fragility and dental anomalies who is a compound he
13  how the loss of Slac2-b expression leads to skin fragility and erosions is unknown.
14  an unexpected role for Slac2-b in inherited skin fragility and expand the clinical spectrum of human
15 erformed of the molecular basis of patient's skin fragility and mottled pigmentation phenotype.
16              RDEB is characterized by severe skin fragility and nonhealing wounds aggravated by scarr
17  of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation
18 n protein and anchoring fibrils, ameliorated skin fragility, and reduced lethality in the murine mode
19 JUP as the most down-regulated gene among 21 skin fragility-associated genes.
20 B) is an inherited disorder characterized by skin fragility, blistering, and multiple skin wounds wit
21 e injected with EBA autoantibodies developed skin fragility, blisters, erosions, and nail loss on the
22 on in EXPH5 in three siblings with inherited skin fragility born to consanguineous Iraqi parents.
23   The latter individuals show no evidence of skin fragility but have marked dental abnormalities with
24 ly and cryptophthalmos in FS are sequelae of skin fragility but the bases for associated kidney malfo
25  JUP mutation in two unrelated families with skin fragility, but cardiac findings highlighted age-dep
26 is bullosa simplex are dominant disorders of skin fragility characterized by intraepidermal blisterin
27 ts in COL7A1 and is characterized by extreme skin fragility, chronic inflammation, and fibrosis.
28 procollagen amino-propeptidase, cause severe skin fragility, designated as dermatosparaxis in animals
29 n, c.468G>A, in the JUP gene that results in skin fragility, diffuse palmoplantar keratoderma, and wo
30 ally, we draw some comparisons to vertebrate skin fragility diseases and muscular dystrophies.
31 is a promising approach to treat devastating skin fragility diseases.
32 ler syndrome is, to our knowledge, the first skin fragility disorder caused by a defect in actin-ECM
33                Epidermolytic ichthyosis is a skin fragility disorder caused by dominant-negative muta
34 ic epidermolysis bullosa (RDEB) is a genetic skin fragility disorder characterized by injury-driven b
35  the dermis, and its mutations cause a human skin fragility disorder coined recessive dystrophic epid
36                             The best-studied skin fragility disorder is epidermolysis bullosa simplex
37                   We now report an inherited skin fragility disorder with a homozygous nonsense mutat
38 notype in a patient with suspected inherited skin fragility disorder.
39                                              Skin fragility disorders caused by keratin mutations are
40 pidermolysis bullosa is a group of heritable skin fragility disorders with considerable morbidity and
41 c and phenotypic spectrum of human inherited skin fragility disorders, and we propose the addition of
42 EB), a phenotypically heterogeneous group of skin fragility disorders, is currently associated with m
43 the concept of syndromic versus nonsyndromic skin fragility disorders.
44                               Of note is the skin fragility in dermatosparaxis, and also the appearan
45  BPAG1 cause sensory neuron degeneration and skin fragility in mice.
46                                              Skin fragility in most cases is due to mutations in the
47  and its absence that is the likely cause of skin fragility in mutant mice.
48 ndings illustrate the molecular basis of the skin fragility in this family and attest to the importan
49                                              Skin fragility is caused by expression of either an abno
50 connective-tissue disorders characterized by skin fragility, joint laxity, and skeletal deformities.
51  alteration of decorin GAG may contribute to skin fragility of elderly people.
52 syndrome, a genetic disease characterized by skin fragility, photosensitivity, and increased risk of
53                         Ectodermal dysplasia/skin fragility syndrome is a recently described autosoma
54 the underlying cause of ectodermal dysplasia/skin fragility syndrome, and skin from these patients ex
55 ted in blistering skin, reminiscent of human skin fragility syndromes.
56 employed 2 different mouse models of genetic skin fragility to assess the role of the basement membra
57    We examined a cohort of 362 families with skin fragility to screen for genetic mutations with next
58 enotype is characterized by mild generalized skin fragility, trauma-induced skin blistering since inf
59                                     Although skin fragility was mild, it provided clues to the diagno
60                    In two siblings with mild skin fragility, woolly hair, and mild palmoplantar kerat
61 ome-associated protein, whose absence causes skin fragility, woolly hair, and palmoplantar keratoderm
62 s, in addition to a mutation associated with skin fragility/woolly hair syndrome, impair gap junction