ライフサイエンスコーパス: skin fragility

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 develop normally and do not display signs of skin fragility.

5 by pruritus, excoriated prurigo nodules, and skin fragility.

6 N-proteinase and is characterised by extreme skin fragility.

7 zed by nail dystrophy and late onset of mild skin fragility and acral blistering.

8 is bullosa (RDEB) is a disorder of incurable skin fragility and blistering caused by mutations in the

9 orm of junctional epidermolysis bullosa with skin fragility and dental anomalies who is a compound he

10 an unexpected role for Slac2-b in inherited skin fragility and expand the clinical spectrum of human

11 erformed of the molecular basis of patient's skin fragility and mottled pigmentation phenotype.

12 of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation

13 n protein and anchoring fibrils, ameliorated skin fragility, and reduced lethality in the murine mode

14 B) is an inherited disorder characterized by skin fragility, blistering, and multiple skin wounds wit

15 e injected with EBA autoantibodies developed skin fragility, blisters, erosions, and nail loss on the

16 on in EXPH5 in three siblings with inherited skin fragility born to consanguineous Iraqi parents.

17 The latter individuals show no evidence of skin fragility but have marked dental abnormalities with

18 ly and cryptophthalmos in FS are sequelae of skin fragility but the bases for associated kidney malfo

19 is bullosa simplex are dominant disorders of skin fragility characterized by intraepidermal blisterin

20 procollagen amino-propeptidase, cause severe skin fragility, designated as dermatosparaxis in animals

21 n, c.468G>A, in the JUP gene that results in skin fragility, diffuse palmoplantar keratoderma, and wo

22 ally, we draw some comparisons to vertebrate skin fragility diseases and muscular dystrophies.

23 ler syndrome is, to our knowledge, the first skin fragility disorder caused by a defect in actin-ECM

24 ic epidermolysis bullosa (RDEB) is a genetic skin fragility disorder characterized by injury-driven b

25 the dermis, and its mutations cause a human skin fragility disorder coined recessive dystrophic epid

26 The best-studied skin fragility disorder is epidermolysis bullosa simplex

27 We now report an inherited skin fragility disorder with a homozygous nonsense mutat

28 notype in a patient with suspected inherited skin fragility disorder.

29 Skin fragility disorders caused by keratin mutations are

30 pidermolysis bullosa is a group of heritable skin fragility disorders with considerable morbidity and

31 c and phenotypic spectrum of human inherited skin fragility disorders, and we propose the addition of

32 Of note is the skin fragility in dermatosparaxis, and also the appearan

33 BPAG1 cause sensory neuron degeneration and skin fragility in mice.

34 Skin fragility in most cases is due to mutations in the

35 and its absence that is the likely cause of skin fragility in mutant mice.

36 ndings illustrate the molecular basis of the skin fragility in this family and attest to the importan

37 Skin fragility is caused by expression of either an abno

38 connective-tissue disorders characterized by skin fragility, joint laxity, and skeletal deformities.

39 alteration of decorin GAG may contribute to skin fragility of elderly people.

40 syndrome, a genetic disease characterized by skin fragility, photosensitivity, and increased risk of

41 Ectodermal dysplasia/skin fragility syndrome is a recently described autosoma

42 the underlying cause of ectodermal dysplasia/skin fragility syndrome, and skin from these patients ex

43 employed 2 different mouse models of genetic skin fragility to assess the role of the basement membra

44 enotype is characterized by mild generalized skin fragility, trauma-induced skin blistering since inf

45 Although skin fragility was mild, it provided clues to the diagno

46 s, in addition to a mutation associated with skin fragility/woolly hair syndrome, impair gap junction