Isolation and Chromosomal Localization of a Cornea-Specific Human Keratin 12 Gene and Detection of Four Mutations in Meesmann Corneal Epithelial Dystrophy

Differentiation-related expression of a major 64K corneal keratin in vivo and in culture suggests limbal location of corneal epithelial stem cells.

Alexander Schermer, Sharon Galvin, Tung‐Tien Sun · The Journal of Cell Biology · 1986 · 1.4K citations · Full text

Life Sciences, Cell Biology, Developmental Biology +12

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 Simplex: Evidence in Two Families for Keratin Gene Abnormalities

J. M. Bonifas, ALANA L. ROTHMAN, E Epstein · Science · 1991 · 428 citations

Medicine, Dermatology, Genetics +14

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

Robert Vassar, Pierre A. Coulombe, Linda Degenstein et al. · Cell · 1991 · 415 citations

Life Sciences, Dermatology, Genetics +9

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

E. Birgitte Lane, E.L. Rugg, Harshad Navsaria et al. · Nature · 1992 · 411 citations

Medicine, Dermatology, Genetics +8