Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

Pierre A. Coulombe, M. Elizabeth Hutton, Anthony Letal et al. · Cell · 1991 · 656 citations

Medicine, Genetics, Molecular Genetics +10

Epidermolysis bullosa and the risk of life-threatening cancers: The National EB Registry experience, 1986-2006

Jo‐David Fine, Lorraine Johnson, Madeline Weiner et al. · Journal of the American Academy of Dermatology · 2008 · 458 citations

Medicine, Dermatology, Oncology +10

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases

Ildikó Szeverényi, Andrew Cassidy, Cheuk Wang Chung et al. · Human Mutation · 2007 · 372 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

New common variants affecting susceptibility to basal cell carcinoma

Simon Stacey, Patrick Sulem, Gísli Másson et al. · Nature Genetics · 2009 · 336 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

Regina C. Betz, Laura Planko, Sibylle Eigelshoven et al. · The American Journal of Human Genetics · 2006 · 267 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4