(Q46983552)

27 December 2017

title

Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis (English)

1 reference

27 December 2017

Mutations of Keratin 9 in Two Families with Palmoplantar Epidermolytic Hyperkeratosis (English)

1 reference

Crossref

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

16 May 2024

Bonifas JM

1 reference

27 December 2017

author name string

Epstein EH Jr

1 reference

27 December 2017

K. Matsumura

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7523529

16 May 2024

M. A. Chen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7523529

16 May 2024

J. Berth-Jones

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7523529

16 May 2024

P. E. Hutchison

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7523529

16 May 2024

M. Zloczower

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7523529

16 May 2024

P. O. Fritsch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7523529

16 May 2024

E. H. Epstein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7523529

16 May 2024

language of work or name

English

0 references

publication date

1 October 1994

1 reference

27 December 2017

full work available at URL

https://api.elsevier.com/content/article/PII:S0022202X9490131E?httpAccept=text/xml

1 reference

Crossref

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

https://api.elsevier.com/content/article/PII:S0022202X9490131E?httpAccept=text/plain

16 May 2024

1 reference

Crossref

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Journal of Investigative Dermatology

16 May 2024

published in

1 reference

27 December 2017

volume

103

1 reference

27 December 2017

issue

1 reference

27 December 2017

page(s)

474-477

1 reference

27 December 2017

Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II

cites work

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

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

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

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

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

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

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Cytokeratin No. 9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity.

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Distribution of a special subset of keratinocytes characterized by the expression of cytokeratin 9 in adult and fetal human epidermis of various body sites

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

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

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

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

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Closing in on a breast cancer gene on chromosome 17q

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

A second-generation linkage map of the human genome

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

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

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

A family with palmoplantar epidermolytic hyperkeratosis

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Epidermolytic hereditary palmoplantar keratoderma. Report of a family and treatment with an oral aromatic retinoid

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Regional variation in the expression of pemphigus foliaceus, pemphigus erythematosus, and pemphigus vulgaris antigens in human skin

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Regional variations in antigenic properties of skin. A possible cause for disease-specific distribution of skin lesions

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

Of mice and men: genetic skin diseases of keratin

16 May 2024

1 reference

https://api.crossref.org/works/10.1111/1523-1747.EP12395570

16 May 2024

Identifiers

1 reference

27 December 2017

Dimensions Publication ID

1017331090

0 references

1 reference

27 December 2017