The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex

Dedee F. Murrell; Niken Trisnowati; Spiros Miyakis; Amy S. Paller

doi:10.1038/jid.2011.206

The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex

Dedee F. Murrell^*, Niken Trisnowati, Spiros Miyakis, Amy S. Paller

^*Corresponding author for this work

Dermatology

Research output: Contribution to journal › Comment/debate › peer-review

14 Scopus citations

Abstract

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).

Original language	English (US)
Pages (from-to)	1787-1790
Number of pages	4
Journal	Journal of Investigative Dermatology
Volume	131
Issue number	9
DOIs	https://doi.org/10.1038/jid.2011.206
State	Published - Sep 2011

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Dermatology
Cell Biology

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10.1038/jid.2011.206

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abstract = "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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AU - Miyakis, Spiros

AU - Paller, Amy S.

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AB - 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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The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex

Abstract

ASJC Scopus subject areas

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