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

Dermatology
Molecular Biology
Biochemistry
Cell Biology

Access to Document

10.1038/jid.2011.206

Cite this

@article{2766dd4ca217450eac75111140ca99ed,

title = "The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex",

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).",

author = "Murrell, \{Dedee F.\} and Niken Trisnowati and Spiros Miyakis and Paller, \{Amy S.\}",

year = "2011",

month = sep,

doi = "10.1038/jid.2011.206",

language = "English (US)",

volume = "131",

pages = "1787--1790",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Elsevier B.V.",

number = "9",

}

TY - JOUR

T1 - The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex

AU - Murrell, Dedee F.

AU - Trisnowati, Niken

AU - Miyakis, Spiros

AU - Paller, Amy S.

PY - 2011/9

Y1 - 2011/9

N2 - 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).

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).

UR - http://www.scopus.com/inward/record.url?scp=80051724626&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=80051724626&partnerID=8YFLogxK

U2 - 10.1038/jid.2011.206

DO - 10.1038/jid.2011.206

M3 - Comment/debate

C2 - 21844930

AN - SCOPUS:80051724626

SN - 0022-202X

VL - 131

SP - 1787

EP - 1790

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 9

ER -

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

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this