Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex

Journal of Investigative Dermatology

Volumn 111, Issue 5, 1998, Pages 900-902

  Muller, F B ^a   Kuster, W ^a   Bruckner Tuderman, L ^a   Korge, B P ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Intermediate fitaments; Keratin genes

Indexed keywords

KERATIN;

ARTICLE; BULLOUS SKIN DISEASE; CLINICAL ARTICLE; EPIDERMOLYSIS BULLOSA; GENE MUTATION; GENOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0031767288     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00374.x     Document Type: Article

References (14)

1. Y.M. Chan Q.C. Yu J.D. Fine E. Fuchs The genetic basis of Weber-Cockayne epidermolysis bullosa simplex Proc Natl Acad Sci 90 1993 7414 7418
2. Y.M. Chan Q.C. Yu J. LeBlanc-Staceski Mutations in the non-helical linker segment L12 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex J Cell Sci 107 1994 767 774
3. L.D. Corden WhI McLean Human keratin diseases. Hereditary fragility of specific epithelial tissues Exp Dermatol 5 1996 297 307
4. P. Ehrlich V.P. Syvert A. Spencer K. Stephens A common keratin 5 mutation in epidermolysis bullosa simplex Weber-Cockayne J Invest Dermatol 104 1995 877 879
5. J.-D. Fine E.A. Bauer R.A. Briggaman Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa J Am Acad Dermatol 24 1991 119 135
6. E. Fuchs The cytoskeleton and disease: genetic disorders of intermediate filaments Ann Rev Genet 30 1996 197 231
7. A. Joseph J. Rothnagel The role of keratin mutations in disorders of the skin Curr Opinion Dermatolgy 3 1996 127 136
8. B.P. Korge T. Krieg The molecular basis for inherited bullous diseases J Mol Med 74 1996 59 70
9. 328 to Val in Linker 12 domain of keratin 5 Hum Mol Genet 4 1995 1999 2000
10. W.H. McLean E.B. Lane Intermediate filaments in disease Curr Opin Cell Biol 7 1995 118 125
11. E.L. Rugg S.M. Morley Fjd Smith Missing links: Weber-Cockayne keratine mutations implicate the L12 linker domain in effective cytoskeleton function Nature Genet 5 1993 294 300
12. P.M. Steinert L.N. Marekov Rdb Fraser DaD Parry Keratin intermediate filament structure: Cross linking studies yield quantitative information on molecule dimension and mechanism of assembly J Mol Biol 230 1993 436 452
13. P.M. Steinert DaD Parry The conserved H1 domain of the type II keratin 1 chain plays an essential role in the alignment of nearest neighbor molecules in mouse and human keratin 1/ keratin 10 intermediate filaments at the two- to four-molecule level of structure J Biol Chem 268 1993 2878 2887
14. G. Taylor V. Venning F. Wojnarowska P.R. Millard Suction-induced basal cell cytolysis in the Weber-Cockayne variant of epidermolysis bullosa simplex J Cutan Pathol 20 1993 389 392