Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis - Wikidata - wikimedia - TriplyDB

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

http://www.wikidata.org/entity/Q24673167

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Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity Unique amino acid signatures that are evolutionarily conserved distinguish simple-type, epidermal and hair keratins Head and/or CaaX domain deletions of lamin proteins disrupt preformed lamin A and C but not lamin B structure in mammalian cells.Keratin gene mutations in disorders of human skin and its appendages.Intermediate filaments and disease: mutations that cripple cell strength.Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders Emerging roles of sumoylation in the regulation of actin, microtubules, intermediate filaments, and septins Keratin gene mutations in human skin disease.

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P2860

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

http://www.wikidata.org/entity/Q24673167

description

1994 nî lūn-bûn

@nan

1994 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

1994 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

1994年の論文

@ja

1994年論文

@yue

1994年論文

@zh-hant

1994年論文

@zh-hk

1994年論文

@zh-mo

1994年論文

@zh-tw

1994年论文

@wuu

name

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

@ast

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

@en

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

@nl

type

label

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

@ast

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

@en

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

@nl

prefLabel

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

@ast

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

@en

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

@nl

P1433

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P2860

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P1433

American Journal of Human Genetics

P1476

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

@en

P2093

C C Chipev

http://www.w3.org/2001/XMLSchema#string

J G Compton

http://www.w3.org/2001/XMLSchema#string

J J DiGiovanna

http://www.w3.org/2001/XMLSchema#string

J M Yang

http://www.w3.org/2001/XMLSchema#string

L Marekov

http://www.w3.org/2001/XMLSchema#string

P M Steinert

http://www.w3.org/2001/XMLSchema#string

S J Bale

http://www.w3.org/2001/XMLSchema#string

P2860

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

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

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

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

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

The two size alleles of human keratin 1 are due to a deletion in the glycine-rich carboxyl-terminal V2 subdomain.

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

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

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

P304

179-90

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scholarly article

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P433

2

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P478

54

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P577

1994-02-01T00:00:00Z

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P698

7508181

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P932

1918158

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