| JEŘÁBKOVÁ, Barbora, Jaromír MAREK, H. BUČKOVÁ, Lenka KOPEČKOVÁ, Karel VESELÝ, J. VALÍČKOVÁ, Jiří FAJKUS and Lenka FAJKUSOVÁ. Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure. The British journal of dermatology : the official organ of the British Association of Dermatology. London: H.K. Lewis & Co., 2010, vol. 162, ., p. 1004-1013. ISSN 0007-0963. |
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@article{880771,
author = {Jeřábková, Barbora and Marek, Jaromír and Bučková, H. and Kopečková, Lenka and Veselý, Karel and Valíčková, J. and Fajkus, Jiří and Fajkusová, Lenka},
article_location = {London},
article_number = {.},
keywords = {epidermolysis bullosa; intermediate filaments; keratin mutations; molecular dynamics; protein structure},
language = {eng},
issn = {0007-0963},
journal = {The British journal of dermatology : the official organ of the British Association of Dermatology},
title = {Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure},
volume = {162},
year = {2010}
}
TY - JOUR
ID - 880771
AU - Jeřábková, Barbora - Marek, Jaromír - Bučková, H. - Kopečková, Lenka - Veselý, Karel - Valíčková, J. - Fajkus, Jiří - Fajkusová, Lenka
PY - 2010
TI - Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure
JF - The British journal of dermatology : the official organ of the British Association of Dermatology
VL - 162
IS - .
SP - 1004-1013
EP - 1004-1013
PB - H.K. Lewis & Co.
SN - 00070963
KW - epidermolysis bullosa
KW - intermediate filaments
KW - keratin mutations
KW - molecular dynamics
KW - protein structure
N2 - Epidermolysis bullosa simplex (EBS) is an inherited skin disorder caused by mutations in the keratin 5 (KRT5) and keratin 14 (KRT14) genes, with fragility of basaů keratinocytes leading to epidermal cytolysis and blistering. Mutations were characterized using polymerase chain reaction (PCR) and DNA sequencing. Further, to explore possible correlations with function, the structural effects of the mutations in segment 2B of KRT5 and KRT14 and associated with EBS in our patients. We have identified mutations in the KRT5 and KRT14 genesin 16 of 23 families affected by EBS in the Czech republic. Eleven different sequence variants were found, of which four have not been reported previously.
ER -
JEŘÁBKOVÁ, Barbora, Jaromír MAREK, H. BUČKOVÁ, Lenka KOPEČKOVÁ, Karel VESELÝ, J. VALÍČKOVÁ, Jiří FAJKUS and Lenka FAJKUSOVÁ. Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure. \textit{The British journal of dermatology : the official organ of the British Association of Dermatology}. London: H.K. Lewis \&{} Co., 2010, vol.~162, ., p.~1004-1013. ISSN~0007-0963.
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