Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions (Q83334636)

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21 January 2020

title

Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions (English)

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21 January 2020

2

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21 January 2020

author name string

Karin Aufenvenne

1

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21 January 2020

Tatjana Walker

3

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21 January 2020

Christoph Becker-Pauly

4

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21 January 2020

Hans Christian Hennies

5

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21 January 2020

Walter Stöcker

6

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21 January 2020

Heiko Traupe

7

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21 January 2020

language of work or name

English

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publication date

12 February 2009

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Journal of Investigative Dermatology

21 January 2020

published in

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21 January 2020

volume

129

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21 January 2020

issue

8

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21 January 2020

page(s)

2068-2071

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https://scigraph.springernature.com/pub.10.1038/jid.2009.18

21 January 2020

exact match

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The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.

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A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature.

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A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis

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A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism

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7 January 2021

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

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7 January 2021

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A novel function for transglutaminase 1: attachment of long-chain omega-hydroxyceramides to involucrin by ester bond formation

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7 January 2021

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype

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7 January 2021

Self-Healing Collodion Baby: a Dynamic Phenotype Explained by a Particular Transglutaminase-1 Mutation

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7 January 2021

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

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