(Q34416078)

2 August 2017

1 reference

title

Human keratin diseases: hereditary fragility of specific epithelial tissues (English)

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2 August 2017

Corden LD

1 reference

2 August 2017

McLean WH

series ordinal

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2 August 2017

publication date

1 December 1996

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2 August 2017

published in

Experimental Dermatology

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2 August 2017

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2 August 2017

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2 August 2017

page(s)

297-307

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Intermediate filaments in disease

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

A group of type I keratin genes on human chromosome 17: characterization and expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Chronic hepatitis, hepatocyte fragility, and increased soluble phosphoglycokeratins in transgenic mice expressing a keratin 18 conserved arginine mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

The region coding for the helix termination motif and the adjacent intron 6 of the human type I hair keratin gene hHa2 contains three natural, closely spaced polymorphic sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Keratin 14 gene point mutation in the Köbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Abnormal IL-4 gene expression by atopic dermatitis T lymphocytes is reflected in altered nuclear protein interactions with IL-4 transcriptional regulatory element

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Birthmark due to cutaneous mosaicism for keratin 10 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Ichthyosis bullosa of Siemens--a disease involving keratin 2e

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Pachyonychia congenita; a report of six cases in one family, with a note on linkage data

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.1996.TB00133.X

10.1111/J.1600-0625.1996.TB00133.X

21 January 2018

Identifiers

DOI

1 reference

release_bst3mkimcvghrkqeh64vrwuiv4

2 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/bst3mkimcvghrkqeh64vrwuiv4

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference