(Q47711184)

5 February 2018

title

Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene (English)

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5 February 2018

epidermolytic hyperkeratosis

main subject

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Patrick Terheyden

1

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5 February 2018

Gundula Grimberg

2

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5 February 2018

Ingrid Hausser

3

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5 February 2018

Christian Rose

4

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5 February 2018

Bernhard P Korge

5

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5 February 2018

Thomas Krieg

6

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Meral J Arin

7

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5 February 2018

language of work or name

English

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publication date

28 May 2009

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5 February 2018

Journal of Investigative Dermatology

published in

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5 February 2018

volume

129

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5 February 2018

issue

11

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5 February 2018

page(s)

2721-2723

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5 February 2018

https://scigraph.springernature.com/pub.10.1038/jid.2009.131

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.131

7 January 2021

Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.131

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.131

7 January 2021

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.131

7 January 2021

Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.131

7 January 2021

Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.131

7 January 2021

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.131

7 January 2021

The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.131

7 January 2021

Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.131

7 January 2021

Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation

1 reference

https://api.crossref.org/works/10.1038%2FJID.2009.131

7 January 2021

Identifiers

DOI

10.1038/JID.2009.131

1 reference

5 February 2018

1 reference

5 February 2018