Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma (Q30168402)

9 June 2017

title

Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma (English)

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congenital ichthyosiform erythroderma

9 June 2017

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Akiyama M

1

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9 June 2017

Takizawa Y

series ordinal

2

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9 June 2017

Kokaji T

series ordinal

3

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9 June 2017

Shimizu H

series ordinal

4

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9 June 2017

language of work or name

English

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publication date

1 February 2001

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British Journal of Dermatology

9 June 2017

published in

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9 June 2017

volume

144

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issue

2

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9 June 2017

page(s)

401-407

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

9 June 2017

cites work

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Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.

21 January 2018

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Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene.

21 January 2018

1 reference

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Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis

21 January 2018

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Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis

21 January 2018

1 reference

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Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis.

21 January 2018

1 reference

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Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.

21 January 2018

1 reference

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Keratinocyte-specific transglutaminase of cultured human epidermal cells: relation to cross-linked envelope formation and terminal differentiation

21 January 2018

1 reference

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The fate of trichohyalin. Sequential post-translational modifications by peptidyl-arginine deiminase and transglutaminases

21 January 2018

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Expression of transglutaminase activity in developing human epidermis

21 January 2018

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Abnormal transglutaminase 1 expression pattern in a subset of patients with erythrodermic autosomal recessive ichthyosis.

21 January 2018

1 reference

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Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene

21 January 2018

1 reference

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Transglutaminase 1 Mutations in Lamellar Ichthyosis

21 January 2018

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Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma

21 January 2018

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Severe congenital ichthyosis of the neonate

21 January 2018

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In vitro and rapid in situ transglutaminase assays for congenital ichthyoses--a comparative study

21 January 2018

1 reference

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Highly Active Soluble Processed Forms of the Transglutaminase 1 Enzyme in Epidermal Keratinocytes

21 January 2018

1 reference

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Inactive zymogen and highly active proteolytically processed membrane-bound forms of the transglutaminase 1 enzyme in human epidermal keratinocytes

21 January 2018

1 reference

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10.1046/J.1365-2133.2001.04037.X

21 January 2018

Identifiers

DOI

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9 June 2017

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