Výsledky vyhledávání - "F J D, Smith"

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature

Autor: C, Kasparis, D, Reid, N J, Wilson, V, Okur, C, Cole, C D, Hansen, K, Bosse, R C, Betz, M, Khan, F J D, Smith

Publikováno v: Clinical and Experimental Dermatology

Summary Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::464d497c97ee3f8b040900ea7e8e5f14
https://pubmed.ncbi.nlm.nih.gov/27786367

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Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease

Autor: A K, Reisenauer, S V, Wordingham, J, York, E W J, Kokkonen, W H I, Mclean, N J, Wilson, F J D, Smith

Publikováno v: The British Journal of Dermatology

Background Reticulate pigmentary disorders include the rare autosomal dominant Galli–Galli disease (GGD) and Dowling–Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6ca22122fe6fd7831dbb4608c311138c
https://pubmed.ncbi.nlm.nih.gov/24372084

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A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy

Autor: Stéphane Chavanas, Ortonne Jp, Guerrino Meneguzzi, Yannick Gache, Jouni Uitto, W. H. I. Mclean, Leena Pulkkinen, F. J. D. Smith

Publikováno v: Scopus-Elsevier

Plectin is a widely expressed cytomatrix component involved in the attachment of the cytoskeleton to the plasma membrane. We have recently reported that the skin and muscles of three patients affected by epidermolysis bullosa simplex with muscular dy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e78825ad925fcfbcbd672da97bde9377
https://doi.org/10.1172/jci119028

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Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16

Autor: K M, Spaunhurst, A M, Hogendorf, F J D, Smith, B, Lingala, M E, Schwartz, A, Cywinska-Bernas, K J, Zeman, J Y, Tang

Publikováno v: The British journal of dermatology. 166(4)

Pachyonychia congenita (PC) is an autosomal dominant, very rare keratin disorder caused by mutations in any of at least four genes (KRT6A, KRT6B, KRT16 or KRT17), which can lead to hypertrophic nail dystrophy and palmoplantar keratoderma, among other

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1978d17a9986fc27c10c7d37144fc6b5
https://pubmed.ncbi.nlm.nih.gov/22098151

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Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy

Autor: Jouni Uitto, F. J. D. Smith, W.H. Irwin McLean, Leena Pulkkinen

Publikováno v: Scopus-Elsevier

Recent progress in understanding the molecular organization of the cutaneous basement membrane zone (BMZ) has revealed an intricate network of structural proteins necessary for stable association of the epidermis to the underlying dermis. Molecular g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7cd1d8b4b57ac9f33a76fe1962e3d4c
https://pubmed.ncbi.nlm.nih.gov/8981021

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