Epidermolysis bullosa simplex due to KRT5 mutations: Mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes

British Journal of Dermatology

Volumn 162, Issue 5, 2010, Pages 980-989

  Chamcheu, J C ^a   Virtanen, M ^a   Navsaria, H ^b   Bowden, P E ^c   Vahlquist, A ^a   Torma H ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Chemical chaperone; Heat stress; Keratin filament aggregates; Keratin mutation; Keratinocytes; Protein stability

Indexed keywords

COMPLEMENTARY DNA; CYTOKERATIN 5; GENOMIC DNA; TRIMETHYLAMINE OXIDE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL LOSS; CELL PROTECTION; CONCENTRATION RESPONSE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HEAT STRESS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; IN VITRO STUDY; IN VIVO STUDY; KERATINOCYTE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN STABILITY; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FRAGILITY; SWEDEN;

ADULT; CELL DEATH; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENOTYPE; HEAT-SHOCK RESPONSE; HUMANS; KERATIN-5; KERATINOCYTES; MALE; METHYLAMINES; MIDDLE AGED; MUTATION, MISSENSE; OXIDANTS; PHENOTYPE;

EID: 77951238810     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09615.x     Document Type: Article

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