Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Frances J D Smith"'
Autor:
Manoj Agarwala, Pankaj Salphale, Dincy Peter, Neil J Wilson, Susanne Pulimood, Mary E Schwartz, Frances J D Smith
Publikováno v:
Indian Journal of Dermatology, Vol 62, Iss 4, Pp 422-426 (2017)
Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystro
Externí odkaz:
https://doaj.org/article/5ad5819a6ab04cab8722c9995bc99a0e
Autor:
Aileen Sandilands, Frances J D Smith, Declan P Lunny, Linda E Campbell, Kirsty M Davidson, Stephanie F MacCallum, Laura D Corden, Lesley Christie, Stewart Fleming, E Birgitte Lane, W H Irwin McLean
Publikováno v:
PLoS ONE, Vol 8, Iss 5, p e64404 (2013)
Keratin 7 (K7) is a Type II member of the keratin superfamily and despite its widespread expression in different types of simple and transitional epithelia, its functional role in vivo remains elusive, in part due to the lack of any appropriate mouse
Externí odkaz:
https://doaj.org/article/28afc97ae05f4a86a617ab1c7711baae
Publikováno v:
Indian Journal of Dermatology, Vol 61, Iss 5, Pp 567-567 (2016)
Externí odkaz:
https://doaj.org/article/a88716ccde8541838f2ba6fd73ed5c3c
Autor:
Haihui Liao, Alan D Irvine, Caroline J Macewen, Kathryn H Weed, Louise Porter, Laura D Corden, A Bethany Gibson, Jonathan E Moore, Frances J D Smith, W H Irwin McLean, C B Tara Moore
Publikováno v:
PLoS ONE, Vol 6, Iss 12, p e28582 (2011)
Meesmann epithelial corneal dystrophy (MECD) is an inherited eye disorder caused by dominant-negative mutations in either keratins K3 or K12, leading to mechanical fragility of the anterior corneal epithelium, the outermost covering of the eye. Typic
Externí odkaz:
https://doaj.org/article/bf12101fdf8e4f47be433563dfc884a4
Publikováno v:
Indian Dermatology Online Journal, Vol 12, Iss 1, Pp 147-149 (2021)
Hidradenitis suppurativa is a chronic relapsing disease with multiple abscesses, nodules, and scars in the apocrine bearing areas. Dowling-Degos is a rare autosomal dominant genodermatosis characterized by multiple hyperpigmented macules or papules i
Externí odkaz:
https://doaj.org/article/2c419c3f5729475fbb9989e380596345
Autor:
Anca, Chiriac, Cristina, Rusu, Alina, Murgu, Anca E, Chiriac, Neil J, Wilson, Frances J D, Smith
Publikováno v:
Maedica. 12(2)
Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::239307a32918239669733656ba6c56ef
https://pubmed.ncbi.nlm.nih.gov/29090033
https://pubmed.ncbi.nlm.nih.gov/29090033
Autor:
W H Irwin, McLean, Alan D, Irvine, Kevin J, Hamill, Neil V, Whittock, Carrie M, Coleman-Campbell, Jemima E, Mellerio, Gabrielle S, Ashton, Patricia J H, Dopping-Hepenstal, Robin A J, Eady, Tanvir, Jamil, Roderic J, Phillips, S Ghulam, Shabbir, Tahir S, Haroon, Khawar, Khurshid, Jonathan E, Moore, Brian, Page, Jonathan, Darling, David J, Atherton, Maurice A M, Van Steensel, Colin S, Munro, Frances J D, Smith, John A, McGrath, Rodney J, Phillips
Publikováno v:
Human Molecular Genetics, 12, 2395-2409
Human Molecular Genetics, 12, 18, pp. 2395-2409
Human Molecular Genetics, 12, 18, pp. 2395-2409
Item does not contain fulltext Laryngo-onycho-cutaneous (LOC or Shabbir) syndrome (OMIM 245660) is an autosomal recessive epithelial disorder confined to the Punjabi Muslim population. The condition is characterized by cutaneous erosions, nail dystro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c05acd2040a43ffeafadc4f832e3a1
https://doi.org/10.1093/hmg/ddg234
https://doi.org/10.1093/hmg/ddg234
Publikováno v:
Methods in cell biology. 78
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1839357d4b56b687dfc0aac9b970c6d4
https://pubmed.ncbi.nlm.nih.gov/15646618
https://pubmed.ncbi.nlm.nih.gov/15646618