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

The catalog of human cytokeratins: Patterns of expression in normal epithelia, tumors and cultured cells

1982 • 5,272 citations

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

1989 • 3,458 citations

Strategies for multilocus linkage analysis in humans.

1984 • 2,600 citations

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

1974 • 1,022 citations

Different intermediate-sized filaments distinguished by immunofluorescence microscopy.

1978 • 917 citations

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

1991 • 647 citations

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa

1991 • 511 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

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1991 • 381 citations

Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes.

1988 • 367 citations

The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies.

1983 • 355 citations

Identification and Characterization of Epithelial Cells in Mammalian Tissues by Immunofluorescence Microscopy Using Antibodies to Prekeratin

1979 • 348 citations

The expression of keratin genes in epidermis and cultured epidermal cells

1978 • 264 citations

Cultured epithelial cells of cornea, conjunctiva and skin: absence of marked intrinsic divergence of their differentiated states

1977 • 249 citations

Remarkable conservation of structure among intermediate filament genes

1984 • 169 citations

The polypeptide composition of bovine epidermal α-keratin

1975 • 153 citations

Keratins as biochemical markers of epithelial differentiation

1988 • 148 citations

Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.

1991 • 144 citations

Protein complexes of intermediate-sized filaments: melting of cytokeratin complexes in urea reveals different polypeptide separation characteristics.

1983 • 143 citations

Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene.

1985 • 142 citations

A group of type I keratin genes on human chromosome 17: characterization and expression.

1988 • 142 citations

Low level expression of cytokeratins 8, 18 and 19 in vascular smooth muscle cells of human umbilical cord and in cultured cells derived therefrom, with an analysis of the chromosomal locus containing the cytokeratin 19 gene.

1988 • 141 citations

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

1992 • 140 citations

Epidermolysis Bullosa. A Clinical, Genetic and Epidemiological study.

1971 • 140 citations

Chromosomal Mapping of Human Keratin Genes: Evidence of Non-linkage

1988 • 75 citations

A computer program to make linkage analysis with <scp>liped</scp> and <scp>linkage</scp> easier to perform and less prone to input errors

1988 • 74 citations

GPT – Epidermolysis Bullosa Simplex (EBS Ogna) Linkage in Man

1973 • 72 citations

Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes

1988 • 72 citations

Tonofilament protein from newborn rat epidermis. Isolation, localization, and biosynthesis of marker of epidermal differentiation.

1977 • 57 citations

Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

1991 • 55 citations

The polypeptide composition of epidermal prekeratin

1973 • 55 citations

Two type II keratin genes are localized on human chromosome 12

1989 • 48 citations

Epidermolysis bullosa.

1965 • 37 citations

Localization of the gene for human simple epithelial keratin 18 to chromosome 12 using polymerase chain reaction

1990 • 35 citations

Mammalian epidermal keratin Isolation and characterization of the α-helical proteins from newborn rat

1977 • 31 citations

Epidermolysis bullosa: Evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form

1990 • 22 citations

Subchromosomal localization of two human cytokeratin genes (KRT4 and KRT15) by in situ hybridization

1990 • 18 citations

Dinucleotide repeat polymorphism in the THRA1 gene

1992 • 17 citations

Genetic linkage analysis of epidermolysis bullosa simplex, Köbner type

1984 • 17 citations

PCR detection of a HindIII polymorphism in the human gene for type II procollagen (COL2A1)

1991 • 9 citations

PCR detection of a COL1A1RsalRFLP

1991 • 4 citations

Alu polymorphism in the human type I Keratin (KRT14) gene

1992 • 3 citations