(Q39768510)

14 September 2017

title

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

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14 September 2017

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10

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14 September 2017

Hans Christian Hennies

11

object named as

Hans Christian Hennies

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Vinzenz Oji

object named as

Vinzenz Oji

1

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author name string

Juliette Mazereeuw Hautier

2

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14 September 2017

Bijan Ahvazi

3

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14 September 2017

Ingrid Hausser

4

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14 September 2017

Karin Aufenvenne

5

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14 September 2017

Tatjana Walker

6

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14 September 2017

Natalia Seller

7

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14 September 2017

Peter M Steijlen

8

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14 September 2017

Wolfgang Küster

9

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14 September 2017

Heiko Traupe

12

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14 September 2017

publication date

12 September 2006

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14 September 2017

published in

Human Molecular Genetics

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14 September 2017

volume

15

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14 September 2017

issue

21

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14 September 2017

page(s)

3083-3097

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Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity

14 September 2017

cites work

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https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Epithelial barrier function: assembly and structural features of the cornified cell envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Identification and sequence analysis of two new members of the SKALP/elafin and SPAI-2 gene family. Biochemical properties of the transglutaminase substrate motif and suggestions for a new nomenclature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

21 January 2018

Human beta-defensin-2

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Quantitative assessment of pain-related thermal dysfunction through clinical digital infrared thermal imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Three-dimensional structure of the human transglutaminase 3 enzyme: binding of calcium ions changes structure for activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Crystal structure of transglutaminase 3 in complex with GMP: structural basis for nucleotide specificity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

The emerging structural understanding of transglutaminase 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Proteolytic release of keratinocyte transglutaminase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Cathepsin D is involved in the regulation of transglutaminase 1 and epidermal differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Assessment of protein models with three-dimensional profiles

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

Probing the structure of falcipain-3, a cysteine protease from Plasmodium falciparum: comparative protein modeling and docking studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

A novel in situ method for the detection of deficient transglutaminase activity in the skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL249

21 January 2018

Identifiers

DOI

10.1093/HMG/DDL249

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14 September 2017

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