Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Paul E, Bowden"'
Publikováno v:
Journal of Investigative Dermatology. 113:1123-1127
Monilethrix is an autosomal dominant hair disorder characterized by a beaded appearance of the hair due to periodic thinning of the shaft. The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. Mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::124370eab6ca22a56edd395f0d902bd2
https://doi.org/10.1046/j.1523-1747.1999.00777.x
https://doi.org/10.1046/j.1523-1747.1999.00777.x
Autor:
E. B. Lane, M. White, Paul E. Bowden, Caroline Higgins, Whi McLean, Irene M. Leigh, S.M. Morley
Publikováno v:
Experimental Dermatology. 8:120-123
Bullous congenital ichthyosiform erythroderma (BCIE) is a dominantly inherited keratinizing disorder characterized by erythroderma and blistering in neonates and generalized epidermolytic hyperkeratosis (EH) in adulthood. Previously, it has been show
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cef0ad967e5ad6b60f445d78ea6271e
https://doi.org/10.1111/j.1600-0625.1999.tb00358.x
https://doi.org/10.1111/j.1600-0625.1999.tb00358.x
Publikováno v:
Veterinary dermatology. 20(5-6)
Canine claws are complex epithelial structures resembling the mammalian hair fibre, and human nail plate, in terms of tissue-specific differentiation. They are composed of several distinct epithelial cell lineages undergoing either hard or soft kerat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::be65b4d0f74ce68cef14d07f795ff900
https://pubmed.ncbi.nlm.nih.gov/20178471
https://pubmed.ncbi.nlm.nih.gov/20178471
Publikováno v:
Journal of Investigative Dermatology. 96:998-1031
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2168f442673bcb8d28aae3a63435008b
https://doi.org/10.1111/1523-1747.ep12476622
https://doi.org/10.1111/1523-1747.ep12476622
Publikováno v:
Experimental dermatology. 13(5)
Epidermolysis bullosa simplex (EBS) is a group of predominantly autosomal dominant hereditary disorders of the skin, which manifest as superficial skin blisters after minimal mechanical trauma. Three subtypes have been defined, based on clinical seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f607b5c5e40718811dc253b9c3da059
https://pubmed.ncbi.nlm.nih.gov/15140024
https://pubmed.ncbi.nlm.nih.gov/15140024
Autor:
Richard J. Turner, Joanne L. Haley, Aleksej Kansky, Joseph A. Rothnagel, David O. Jones, Paul E. Bowden
Publikováno v:
Nature Genetics. 10:363-365
Pachyonychia congenita (PC) is a rare autosomal dominant condition characterized by multiple ectodermal abnormalities1−3. Patients with Jadassohn-Lewandowsky Syndrome (MIM sharp167200; PC-1) have nail defects (onchyogryposis), palmoplantar hyperker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1d9b1687bb86db726dbfebe60cca602
https://doi.org/10.1038/ng0795-363
https://doi.org/10.1038/ng0795-363
Autor:
Irene M. Leigh, Paul E. Bowden, Marie Virtanen, Nils-Jørgen Mørk, Anders Vahlquist, Tobias Gedde-Dahl
Publikováno v:
Acta dermato-venereologica. 81(3)
Dominant-negative mutations in the KRT1 and KRT10 genes cause epidermolytic hyperkeratosis, a rare form of ichthyosis sometimes associated with palmoplantar keratoderma. Although there is no permanent cure, some patients improve on retinoid therapy.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6101fbcc61559e67feb12bf701633157
https://pubmed.ncbi.nlm.nih.gov/11558868
https://pubmed.ncbi.nlm.nih.gov/11558868
Autor:
Jure Stojan, Paul E. Bowden, Daniel Gibbs, Radovan Komel, E. Birgitte Lane, Anders Vahlquist, Mirjana Liovic
Publikováno v:
The Journal of investigative dermatology. 116(6)
Epidermolysis bullosa simplex is a hereditary skin blistering disorder caused by mutations in the KRT5 or KRT14 genes. More than 50 different mutations have been described so far. These, and reports of other keratin gene mutations, have highlighted t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::418c537b978ce979f67bee68f393e70d
https://pubmed.ncbi.nlm.nih.gov/11407988
https://pubmed.ncbi.nlm.nih.gov/11407988
Autor:
Paul E. Bowden, Moise L. Levy, Michael T. Lin, Howard P. Baden, Dennis R. Roop, Cynthia M. Magro, Lindsey R. Baden
Publikováno v:
Experimental dermatology. 8(2)
Pachyonychia congenita (PC) is a rare, autosomal dominant, ectodermal dysplasia characterized most distinctly by the presence of symmetric nail hypertrophy. In the Jadassohn-Lewandowsky form, or PC-1, additional cutaneous manifestations may include p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1feab386482f414c7453cfbee55e9199
https://pubmed.ncbi.nlm.nih.gov/10232401
https://pubmed.ncbi.nlm.nih.gov/10232401
A novel nonepidermolytic palmoplantar keratoderma: a clinical and histopathologic study of six cases
Publikováno v:
Journal of the American Academy of Dermatology. 37(1)
Background: Some hereditary palmoplantar keratodermas (PPK) have been defined at the molecular level. Objective: Our purpose was to establish the cause of a hereditary PPK with unique histopathologic findings in the epidermis. Methods: Investigative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4abc9cb931e4311eb9e3af5ab08c061c
https://pubmed.ncbi.nlm.nih.gov/9216520
https://pubmed.ncbi.nlm.nih.gov/9216520