About: Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure

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About: Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	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. 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. (en)
Title	Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure (en)
skos:prefLabel	Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure (en)
skos:notation	RIV/65269705:_____/10:#0001005!RIV11-MZ0-65269705
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(LC06023), P(NR9346), Z(MSM0021622415)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Jeřábková, Barbora Bučková, Hana Valíčková, Jana Fajkusová, Lenka Kopečková, Lenka
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice Brno / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	266353
http://linked.open...ai/riv/idVysledku	RIV/65269705:_____/10:#0001005
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	epydermolysis bullosa (en)
http://linked.open.../riv/klicoveSlovo	epydermolysis bullosa
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[D277B3084792]
http://linked.open...i/riv/nazevZdroje	British Journal of Dermatology
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	Integrated bioanalytical technologies for microanalyses and diagnostics with laser induced fluorescence and mass spectrometry coupling. Introduction of complex diagnostics of epidermolysis bullosa congenita in the Czech Republic
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	162
http://linked.open...iv/tvurceVysledku	Fajkusová, Lenka Kopečková, Lenka Bučková, Hana Valíčková, Jana Jeřábková, Barbora
http://linked.open...ain/vavai/riv/wos	000276853600009
http://linked.open...n/vavai/riv/zamer	Molecular basis of cell and tissue regulations
issn	0007-0963
number of pages	10 (xsd:int)

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