(Q37856725)

24 August 2017

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title

The phenotypic and molecular genetic features of pachyonychia congenita (English)

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24 August 2017

1

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24 August 2017

3

Mark J Eliason

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24 August 2017

C David Hansen

2

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24 August 2017

Frances J D Smith

series ordinal

4

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24 August 2017

language of work or name

English

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publication date

24 March 2011

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Journal of Investigative Dermatology

24 August 2017

published in

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24 August 2017

volume

131

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24 August 2017

issue

5

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24 August 2017

page(s)

1015-1017

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https://scigraph.springernature.com/pub.10.1038/jid.2011.59

24 August 2017

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

Single-nucleotide-specific siRNA targeting in a dominant-negative skin model

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

Toward a treatment for pachyonychia congenita: report on the 7th Annual International Pachyonychia Congenita Consortium meeting

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

Intermediate filament proteins and their associated diseases

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

Development of therapeutic siRNAs for pachyonychia congenita

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

Introducing a null mutation in the mouse K6alpha and K6beta genes reveals their essential structural role in the oral mucosa

1 reference

https://api.crossref.org/works/10.1038%2FJID.2011.59

7 January 2021

Identifiers

DOI

10.1038/JID.2011.59

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24 August 2017

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