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

British Journal of Dermatology

Volumn 162, Issue 5, 2010, Pages 1004-1013

  Jerabkova B ^a,b   Marek, J ^b   Buckova H ^a   Kopeckova L ^a   Vesely K ^c   Valickova J ^a   Fajkus, J ^b,d   Fajkusova L ^a,b  

^a UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^b MASARYK UNIVERSITY   (Czech Republic)

^c ST ANNE S UNIVERSITY HOSPITAL   (Czech Republic)

^d INSTITUTE OF BIOPHYSICS   (Czech Republic)

Author keywords

Epidermolysis bullosa; Intermediate filaments; Keratin mutations; Molecular dynamics; Protein structure

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 5; DNA; VIMENTIN;

ADULT; ALPHA HELIX; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; CRYSTAL STRUCTURE; CZECH REPUBLIC; DISEASE SEVERITY; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; INTERMEDIATE FILAMENT; MALE; MOLECULAR DYNAMICS; MOLECULAR MODEL; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN QUATERNARY STRUCTURE; PROTEIN SECONDARY STRUCTURE; STRUCTURE ACTIVITY RELATION; TRANSMISSION ELECTRON MICROSCOPY;

ADULT; CHILD; CHILD, PRESCHOOL; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERMEDIATE FILAMENTS; KERATIN-14; KERATIN-5; MALE; MICROSCOPY, FLUORESCENCE; MODELS, MOLECULAR; MUTATION; PHENOTYPE; SKIN;

EID: 77951242794     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09626.x     Document Type: Article

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