Keratin 16 and keratin 17 mutations cause pachyonychia congenita (Q24307427)

GOA release 2020-03-11

epidermis development

1 reference

GOA release 2020-03-11

pachyonychia congenita

1 reference

W H McLean

1

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E L Rugg

2

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D P Lunny

3

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S M Morley

4

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E B Lane

5

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O Swensson

6

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P J Dopping-Hepenstal

7

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W A Griffiths

8

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R A Eady

9

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C Higgins

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

10

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language of work or name

English

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publication date

March 1995

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published in

Nature Genetics

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volume

9

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issue

3

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page(s)

273-8

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cites work

1 reference

https://api.crossref.org/works/10.1038/NG0395-273

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG0395-273

The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

Elucidating the early stages of keratin filament assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

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/10.1038%2FNG0395-273

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

In situ hybridization to the Crithidia fasciculata kinetoplast reveals two antipodal sites involved in kinetoplast DNA replication

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

Intermediate filaments in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

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/10.1038%2FNG0395-273

Monoclonal antibody analysis of keratin expression in epidermal diseases: a 48- and 56-kdalton keratin as molecular markers for hyperproliferative keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

Different keratin polypeptides in epidermis and other epithelia of human skin: a specific cytokeratin of molecular weight 46,000 in epithelia of the pilosebaceous tract and basal cell epitheliomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

Keratins of the human hair follicle: "hyperproliferative" keratins consistently expressed in outer root sheath cells in vivo and in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

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/10.1038%2FNG0395-273

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

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%2FNG0395-273

7 January 2021

Chromosomal assignments of human type I and type II cytokeratin genes to different chromosomes.

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

Alpha-helix stability in proteins. I. Empirical correlations concerning substitution of side-chains at the N and C-caps and the replacement of alanine by glycine or serine at solvent-exposed surfaces

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

Alpha-helix stability in proteins. II. Factors that influence stability at an internal position

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

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%2FNG0395-273

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/10.1038%2FNG0395-273

7 January 2021

Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

Changes in the Pattern of Cytokeratin Polypeptides in Epidermis and Hair Follicles During Skin Development in Human Fetuses

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues II. Concomitant and mutually exclusive synthesis of trichocytic and epithelial cytokeratins in diverse human and bovine tissues (hair follicle, nail bed and matrix

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

Keratinocyte differentiation in psoriatic scalp: morphology and expression of epithelial keratins

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021

Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0395-273

7 January 2021