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Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

Data up to Jan 2025

Published1994
Citations244
References42

Total Citations Per Year

Abstract

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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Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK) (1994) – Nature Genetics | Metascience Observatory Explorer