| The yin and the yang of keratin amino Acid substitutions and epidermolysis bullosa simplex. | |
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MedLine Citation:
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PMID: 21844930 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Mutations that change the same amino acid can result in different clinical phenotypes. Through in silico modeling and keratin filament assessment of genetically engineered HaCaT cells, Natsuga et al., as reported in this issue, have demonstrated how changes in charge and structure of a replacement amino acid in keratin 14 can cause disease (KRT14pA413P, EB simplex) or no clinical effect (KRT14pA413T, polymorphism). |
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Authors:
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Dedee F Murrell; Niken Trisnowati; Spiros Miyakis; Amy S Paller |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: The Journal of investigative dermatology Volume: 131 ISSN: 1523-1747 ISO Abbreviation: J. Invest. Dermatol. Publication Date: 2011 Sep |
Date Detail:
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Created Date: 2011-08-16 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0426720 Medline TA: J Invest Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: 1787-90 Citation Subset: IM |
Affiliation:
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1] Department of Dermatology, St George Hospital, Sydney, New South Wales, Australia [2] Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia. |
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Descriptor/Qualifier:
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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