Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma (Q71628003)

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20 October 2019

title

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma (English)

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20 October 2019

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5

A Reis

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20 October 2019

author name string

H C Hennies

1

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20 October 2019

D Zehender

2

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20 October 2019

J Kunze

3

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20 October 2019

W Küster

4

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20 October 2019

publication date

1 June 1994

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20 October 2019

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20 October 2019

volume

93

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20 October 2019

issue

6

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20 October 2019

page(s)

649-654

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Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression

20 October 2019

cites work

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12 December 2020

The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer

1 reference

12 December 2020

The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression

1 reference

12 December 2020

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

1 reference

12 December 2020

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis

1 reference

12 December 2020

Elucidating the early stages of keratin filament assembly

1 reference

12 December 2020

Cytokeratin No. 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity.

1 reference

12 December 2020

Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Genetic skin diseases caused by mutations in keratin intermediate filaments

1 reference

12 December 2020

Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly

1 reference

12 December 2020

Three dinucleotide microsatellite polymorphisms on human chromosome 13.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

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12 December 2020

Genetic Skin Disorders of Keratin

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Structure, Function, and Dynamics of Keratin Intermediate Filaments

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

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12 December 2020

An estimate of unique DNA sequence heterozygosity in the human genome

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12 December 2020

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

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12 December 2020

Structure of alpha-keratin: structural implication of the amino acid sequences of the type I and type II chain segments

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12 December 2020

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

1 reference

12 December 2020

Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations

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12 December 2020

Identifiers

DOI

10.1007/BF00201564

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20 October 2019

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