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

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

1982 • 5,272 citations

Strategies for multilocus linkage analysis in humans.

1984 • 2,600 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

Studies on the Pathogenesis of Epidermolysis Bullosa**From the Section of Dermatology, Department of Medicine, University of Chicago, Chicago 37, Illinois.

1962 • 308 citations

Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins.

1991 • 305 citations

R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1)

1990 • 234 citations

Localization of Basement Membrane Components After Dermal-Epidermal Junction Separation

1983 • 211 citations

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

1991 • 202 citations

Organization, structure, and polymorphisms of the human profilaggrin gene

1990 • 186 citations

Structure of a gene for the human epidermal 67-kDa keratin.

1985 • 160 citations

Comparative map for mice and humans

1992 • 133 citations

Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21.

1989 • 124 citations

A primary genetic linkage map for human chromosome 12

1987 • 114 citations

Differentially expressed bovine cytokeratin genes. Analysis of gene linkage and evolutionary conservation of 5′-upstream sequences.

1987 • 112 citations

Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Diagnosis

1983 • 101 citations

Structure and organization of the human transglutaminase 1 gene.

1992 • 98 citations

Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops.

1992 • 79 citations

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

1988 • 75 citations

The complete sequence of the human intermediate filament chain keratin 10. Subdomainal divisions and model for folding of end domain sequences.

1988 • 73 citations

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

1988 • 72 citations

Mapping of epidermolysis bullosa simplex mutation to chromosome 12.

1991 • 55 citations

Complete sequence of a bovine type I cytokeratin gene: conserved and variable intron positions in genes of polypeptides of the same cytokeratin subfamily.

1985 • 52 citations

Comparative map for mice and humans

1991 • 40 citations

Electron Microscopy in the Early Diagnosis of Genetic Disorders of the Skin

1978 • 35 citations

Opal suppressor phosphoserine tRNA gene and pseudogene are located on human chromosomes 19 and 22, respectively.

1987 • 31 citations

Amplification of the COL2A1 3? variable region used for segregation analysis in a family with the Stickler syndrome

1990 • 30 citations

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

1990 • 18 citations

Isolation and mapping of a polymorphic DNA sequence pYNH15 on chromosome 12q [D12S17]

1988 • 17 citations

Isolation and mapping of a polymorphic DNA sequence pEFD33.2 on chromosome 12 [D12S14]

1988 • 14 citations

[Congenital bullous ichthyosiforme erythrodema. Ultrastructural control of treatment with the ethyl ether of an aromatic compound of retinoic acid].

1977 • 9 citations