Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
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References (42)
Molecular Cloning: A Laboratory Manual
2001 • 133,517 citations
Molecular cloning: A laboratory manual
1990 • 85,659 citations
A Laboratory manual
1989 • 6,833 citations
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
Informativeness of human (dC-dA)n · (dG-dT)n polymorphisms
1990 • 1,371 citations
The CpG dinucleotide and human genetic disease
1988 • 946 citations
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
1991 • 647 citations
Mendelian inheritance in man
1993 • 430 citations
Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities
1991 • 426 citations
Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease
1991 • 413 citations
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
1992 • 406 citations
Simultaneous visualization of seven different DNA probes by in situ hybridization using combinatorial fluorescence and digital imaging microscopy.
1992 • 385 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
An estimate of unique DNA sequence heterozygosity in the human genome
1985 • 297 citations
Human chromosomes. Manual of basic techniques
1990 • 286 citations
Human Cytogenetics: A Practical Approach
1993 • 285 citations
A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
1992 • 284 citations
Elucidating the early stages of keratin filament assembly.
1990 • 243 citations
Structure, Function, and Dynamics of Keratin Intermediate Filaments
1993 • 199 citations
Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.
1992 • 178 citations
Structure of α-keratin: Structural implication of the amino acid sequences of the type I and type II chain segments
1977 • 169 citations
A group of type I keratin genes on human chromosome 17: characterization and expression.
1988 • 142 citations
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex
1993 • 128 citations
Cytokeratin No. 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity.
1986 • 119 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
Zur Kenntniss des Keratoma hereditarium palmare et plantare
1901 • 87 citations
Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12?q21
1992 • 87 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
Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes
1988 • 72 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
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
Indication for the identity of palmoplantar keratoderma type Unna-Thost with type Vörner. Thost's family revisited 110 years later.
1992 • 52 citations
Ueber das Keratoma palmare et plantare hereditarium
1883 • 51 citations
The Two Size Alleles of Human Keratin 1 Are Due to a Deletion in the Glycine-Rich Carboxyl-Terminal V2 Subdomain
1992 • 45 citations
Allelic Variations of Human Keratins K4 and K5 Provide Polymorphic Markers Within the Type II Keratin Gene Cluster on Chromosome 12
1993 • 20 citations
Frequencies of human keratin 10 alleles
1993 • 11 citations
Three dinucleotide microsatellite polymorphisms on human chromosome 13
1993 • 5 citations
Deleted Work
1955 • 0 citations
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