(Q74260642)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971341%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971341%20AND%20SRC:MED&resulttype=core&format=json

epidermolysis bullosa simplex

9 November 2019

main subject

1 reference

K Batta

1

1 reference

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9 November 2019

E L Rugg

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971341%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

N J Wilson

3

1 reference

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9 November 2019

N West

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971341%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

H Goodyear

5

1 reference

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9 November 2019

E B Lane

6

1 reference

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9 November 2019

M Gratian

7

1 reference

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9 November 2019

P Dopping-Hepenstal

8

1 reference

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9 November 2019

C Moss

9

1 reference

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9 November 2019

R A Eady

10

1 reference

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9 November 2019

language of work or name

English

0 references

publication date

1 September 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971341%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Dermatology

9 November 2019

published in

1 reference

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9 November 2019

volume

143

1 reference

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9 November 2019

issue

3

1 reference

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9 November 2019

page(s)

621-627

1 reference

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Intermediate filaments in disease

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03722.X

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03722.X

JSID Tanioku Memorial Lecture 1996. Genetic disorders of keratins and their associated proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03722.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03722.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/10.1111%2FJ.1365-2133.2000.03722.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.1365-2133.2000.03722.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/10.1111%2FJ.1365-2133.2000.03722.X

A functional "knockout" of human keratin 14

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03722.X

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03722.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.1365-2133.2000.03722.X

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03722.X

Abnormal binding of an anti-amnion antibody to epidermal basement membrane provides a novel diagnostic probe for junctional epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2000.03722.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.1365-2133.2000.03722.X

10.1111/J.1365-2133.2000.03722.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10971341%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference