Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Keratin disease"'
Publikováno v:
Journal of dermatological science. 40(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::521e6600fd51a760574364ac3a1fb2db
https://pubmed.ncbi.nlm.nih.gov/16137862
https://pubmed.ncbi.nlm.nih.gov/16137862
Akademický článek
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Autor:
Irvine, A.D., McLean, W.H.I.
Publikováno v:
British Journal of Dermatology. May1999, Vol. 140 Issue 5, p815. 14p.
Autor:
Xiang Gao, Hai-Ping Ke, Xiao-Rui Luan, Zhaoyu Lin, Yuexiao Tang, Xiao-Ling Chen, J. Zhang, Xian-Ning Zhang
Publikováno v:
Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 12, Iss, Pp 220-228 (2018)
Molecular Therapy: Nucleic Acids, Vol 12, Iss, Pp 220-228 (2018)
CRISPR/Cas9 has been confirmed as a distinctly efficient, simple-to-configure, highly specific genome-editing tool that has been used to treat monogenetic disorders. Epidermolytic palmoplantar keratoderma (EPPK) is a common autosomal dominant keratin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d04ecfbbb3b032291e4ac811c3ced20
http://europepmc.org/articles/PMC6023945
http://europepmc.org/articles/PMC6023945
Publikováno v:
British Journal of Dermatology. 175:1372-1375
Ichthyosis Curth–Macklin (ICM) can be considered one of the most drastic forms of genetically-derived keratin disease. Individuals suffering from ICM mainly display severe palmoplantar keratoderma and dark spiky plaques which may affect the entire
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1fb461fe7a3d98eed3df623290be6988
https://doi.org/10.1111/bjd.14969
https://doi.org/10.1111/bjd.14969
Autor:
Hiroshi Shimizu, Akari Nagasaki, Tadamichi Shimizu, Masashi Akiyama, Ken Natsuga, Wataru Nishie, Masatoshi Kanda
Publikováno v:
British Journal of Dermatology. 160:465-468
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b608f6a0af7b70114388ca4f14f621b3
https://doi.org/10.1111/j.1365-2133.2008.08983.x
https://doi.org/10.1111/j.1365-2133.2008.08983.x
Autor:
W.H. Irwin McLean
Publikováno v:
Journal of Investigative Dermatology. 122:xi-xiii
An explosion of interest in genetic disorders of keratinization followed the discovery, in 1991, of the first keratin mutations in K5 and K14 causing the inherited skin blistering disorder epidermolysis bullosa simplex. The current tally is 19 kerati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94c5cee31e448e6bff15c9e67168666c
https://doi.org/10.1111/j.0022-202x.2004.22351.x
https://doi.org/10.1111/j.0022-202x.2004.22351.x
Autor:
Daniel A. Vasco, Zhan Ye, Steven J. Schrodi, Sanjay K. Shukla, Murray H. Brilliant, Tonia C. Carter
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 5 (2014)
Frontiers in Genetics, Vol 5 (2014)
Background: We conducted a genome-wide association study (GWAS) to identify specific genetic variants that underlie susceptibility to disease caused by Staphylococcus aureus in humans. Methods: Cases (n=309) and controls (n=2,925) were genotyped at 5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d58d5722c064fa216c359a9468bd833f
http://europepmc.org/articles/PMC4023021
http://europepmc.org/articles/PMC4023021
Autor:
Eleonora Candi, Alessandro Terrinoni, Cinzia Mazzanti, Tonimaso Gobello, Sergio Oddi, Diana Bella Camaione, Gerry Melino, Giovanna Zambruno, Richard A. Knight
White Sponge Nevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and ‘‘spongy’’ plaques in the oral mucosa.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fbd6e048d88a238b18a4a10b44992cd
http://hdl.handle.net/2108/50078
http://hdl.handle.net/2108/50078
Akademický článek
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