(Q28180183)

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Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin

scientific article (publication date: February 2003)

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Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin (English)

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Akemi Ishida-Yamamoto

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Akemi Ishida-Yamamoto

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English

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publication date

February 2003

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published in

Journal of Dermatological Science

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volume

31

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issue

1

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page(s)

3-8

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cites work

Structural organization of cornified cell envelopes and alterations in inherited skin disorders

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https://api.crossref.org/works/10.1016%2FS0923-1811%2802%2900143-3

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7 January 2021

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A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

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https://api.crossref.org/works/10.1016%2FS0923-1811%2802%2900143-3

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7 January 2021

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Keratoma hereditarium mutilans

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7 January 2021

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Connexins: a connection with the skin

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7 January 2021

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Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis

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https://api.crossref.org/works/10.1016%2FS0923-1811%2802%2900143-3

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7 January 2021

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A novel insertional mutation in loricrin in Vohwinkel's Keratoderma

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https://api.crossref.org/works/10.1016%2FS0923-1811%2802%2900143-3

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7 January 2021

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Loricrin gene mutation in a Japanese patient of Vohwinkel's syndrome

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https://api.crossref.org/works/10.1016%2FS0923-1811%2802%2900143-3

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7 January 2021

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The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope

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https://api.crossref.org/works/10.1016%2FS0923-1811%2802%2900143-3

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7 January 2021

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Loricrin keratoderma: a cause of congenital ichthyosiform erythroderma and collodion baby

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7 January 2021

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Nucleocytoplasmic transport: signals, mechanisms and regulation

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https://api.crossref.org/works/10.1016%2FS0923-1811%2802%2900143-3

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7 January 2021

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Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma

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https://api.crossref.org/works/10.1016%2FS0923-1811%2802%2900143-3

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7 January 2021

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Overexpression of human loricrin in transgenic mice produces a normal phenotype

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https://api.crossref.org/works/10.1016%2FS0923-1811%2802%2900143-3

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7 January 2021

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A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome

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stated in

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reference URL

https://api.crossref.org/works/10.1016%2FS0923-1811%2802%2900143-3

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7 January 2021

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Identifiers

DOI

10.1016/S0923-1811(02)00143-3

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PubMed publication ID

12615358

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(Q28180183)

Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin

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