(Q61763860)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12930305%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12930305%20AND%20SRC:MED&resulttype=core&format=json

epidermolysis bullosa simplex

7 November 2019

main subject

1 reference

Charlotte Brandt Sørensen

inferred from title

author

1

1 reference

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7 November 2019

Brage Storstein Andresen

2

1 reference

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7 November 2019

author name string

Niels Gregersen

6

1 reference

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7 November 2019

Uffe B Jensen

3

1 reference

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7 November 2019

Thomas G Jensen

4

1 reference

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7 November 2019

Peter K A Jensen

5

1 reference

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7 November 2019

Lars Bolund

7

1 reference

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7 November 2019

publication date

1 August 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12930305%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

published in

Experimental Dermatology

1 reference

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7 November 2019

volume

12

1 reference

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7 November 2019

issue

4

1 reference

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7 November 2019

page(s)

472-479

1 reference

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Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

7 November 2019

cites work

1 reference

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The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells

21 January 2018

1 reference

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Keratins as biochemical markers of epithelial differentiation

21 January 2018

1 reference

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The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.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/10.1034%2FJ.1600-0625.2002.120416.X

A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.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/10.1034%2FJ.1600-0625.2002.120416.X

The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.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/10.1034%2FJ.1600-0625.2002.120416.X

Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

Pair formation and promiscuity of cytokeratins: formation in vitro of heterotypic complexes and intermediate-sized filaments by homologous and heterologous recombinations of purified polypeptides.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.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/10.1034%2FJ.1600-0625.2002.120416.X

Insights into the dynamic properties of keratin intermediate filaments in living epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

21 January 2018

Keratins and the skin

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

7 January 2021

The amino acid sequence of chicken muscle desmin provides a common structural model for intermediate filament proteins.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

7 January 2021

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

7 January 2021

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

7 January 2021

A novel cationic liposome reagent for efficient transfection of mammalian cells

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

7 January 2021

Some Methods for Strengthening the Common χ 2 Tests

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

7 January 2021

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0625.2002.120416.X

7 January 2021

10.1034/J.1600-0625.2002.120416.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12930305%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference