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.
Other formats:   BibTeX LaTeX RIS
Basic information
Original name Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure
Name in Czech Mutace v genech pro kreatin u pacientů s epidermolysis bullosa simplex: korelace mezi závažností fenotypu a mírou narušení molekulární struktury intermediální filamenty
Authors JEŘÁBKOVÁ, Barbora (203 Czech Republic), Jaromír MAREK (203 Czech Republic), H. BUČKOVÁ (56 Belgium), Lenka KOPEČKOVÁ (203 Czech Republic), Karel VESELÝ (203 Czech Republic, belonging to the institution), J. VALÍČKOVÁ (203 Czech Republic), Jiří FAJKUS (203 Czech Republic, belonging to the institution) and Lenka FAJKUSOVÁ (203 Czech Republic, guarantor, belonging to the institution).
Edition The British journal of dermatology : the official organ of the British Association of Dermatology, London, H.K. Lewis & Co. 2010, 0007-0963.
Other information
Original language English
Type of outcome Article in a journal
Field of Study Genetics and molecular biology
Country of publisher Czech Republic
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 4.353
RIV identification code RIV/00216224:14310/10:00040762
Organization unit Faculty of Science
UT WoS 000276853600009
Keywords in English epidermolysis bullosa; intermediate filaments; keratin mutations; molecular dynamics; protein structure
Tags International impact, Reviewed
Changed by Changed by: doc. RNDr. Jaromír Marek, Ph.D., učo 1989. Changed: 2/5/2012 12:27.
Abstract
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.
Abstract (in Czech)
Epidermolysis bullosa simplex (EBS) je dědičné kožní onemocnění způsobené mutacemi v genech pro kreatin 5 (KRT5) a kreatin 14 (KRT14), které vedou k narušení bazálních keratinocytů a vzniku puchýřů na kůži. Mutace byly charakterizovány pomocí PCR a sekvenování DNA. Pro zjištění případné korelace mezi fenotypem a mírou narušení struktury molekuly keratinu, byl studován vliv mutací, nacházejících se v 2B segmentu KRT5 a KRT14, na strukturu proteinu. Jako model byla použita krystalová struktura odpovídajícího segmentu proteinu vimentin. Mutace byly identifikovány u 16 z 23 rodin s diagnózou EBS. Celkem bylo nalezeno 11 různých mutací, ze kterých čtyři nebyly dosud publikovány. Výsledky molekulárního modelování potvrdily vztah mezi fenotypem pacientů a strukturálního efektu jednotlivých mutací.
Links
MSM0021622415, plan (intention)Name: Molekulární podstata buněčných a tkáňových regulací
Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations
PrintDisplayed: 20/6/2024 17:29