Epidermal disease: faulty keratin filaments take their toll

MOLECULAR AND CELLULAR BIOLOGY OF INTERMEDIATE FILAMENTS

1988 • 1,395 citations

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

1991 • 647 citations

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

1991 • 426 citations

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

1992 • 406 citations

Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis

1992 • 370 citations

The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes

1992 • 339 citations

A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

1992 • 284 citations

Cellular and Molecular Biology of Intermediate Filaments

1990 • 262 citations

Keratin Intermediate Filament Structure

1993 • 260 citations

A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases.

1991 • 202 citations

Intermediate filament structure: 3. Analysis of sequence homologies

1988 • 178 citations

The Molecular Biology of Intermediate Filament Proteins

1992 • 177 citations

Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis.

1982 • 143 citations

Epidermolysis Bullosa Herpetiformis Dowling-Meara

1982 • 138 citations

Characterization of human cytokeratin 2, an Epidermal cytoskeletal protein synthesized late during differentiation

1992 • 129 citations

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex

1993 • 128 citations

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

1994 • 111 citations

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q

1992 • 101 citations

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.

1993 • 99 citations

Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12?q21

1992 • 87 citations

A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis

1993 • 75 citations

Suprabasal marker proteins distinguishing keratinizing squamous epithelia: Cytokeratin 2 polypeptides of oral masticatory epithelium and epidermis are different

1992 • 74 citations

Conservation of the structure of keratin intermediate filaments: Molecular mechanism by which different keratin molecules integrate into preexisting keratin intermediate filaments during differentiation

1993 • 67 citations

Intermediate filaments: not so tough after all

1992 • 65 citations

Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

1993 • 63 citations

A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex

1993 • 62 citations

A synthetic peptide representing the consensus sequence motif at the carboxy-terminal end of the rod domain inhibits intermediate filament assembly and disassembles preformed filaments.

1992 • 61 citations

Distribution of a special subset of keratinocytes characterized by the expression of cytokeratin 9 in adult and fetal human epidermis of various body sites

1987 • 58 citations

A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simples: δE375

1993 • 53 citations

Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes

1993 • 39 citations

Interferon Gamma Regulation of De Novo Protein Synthesis in Human Dermal Fibroblasts in Culture Is Anatomic Site Dependent

1993 • 36 citations

Primary and Secondary Structure of IF Protein Chains and Modes of Molecular Aggregation

1990 • 20 citations