(Q28118682)

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Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis

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scholarly article

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PubMed publication ID

4 January 2017

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Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis (English)

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PubMed publication ID

4 January 2017

autosomal recessive congenital ichthyosis

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congenital ichthyosiform erythroderma

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transglutaminases

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Transglutaminase 1

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GOA release 2020-03-11

positive regulation of cell cycle

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GOA release 2020-03-11

author name string

San-Quan Zhang

1

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PubMed publication ID

4 January 2017

Chang-Xing Li

2

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PubMed publication ID

4 January 2017

Xin-Qian Gao

3

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PubMed publication ID

4 January 2017

Wen-Yuan Qiu

4

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PubMed publication ID

4 January 2017

Quan Chen

5

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PubMed publication ID

4 January 2017

Xue-Mei Li

6

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PubMed publication ID

4 January 2017

Xin Zhou

7

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PubMed publication ID

4 January 2017

Xin Tian

8

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PubMed publication ID

4 January 2017

Zhi-Ping Tang

9

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PubMed publication ID

4 January 2017

Tian Zhao

10

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PubMed publication ID

4 January 2017

Fang Zhang

11

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PubMed publication ID

4 January 2017

Xi-Bao Zhang

12

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PubMed publication ID

4 January 2017

publication date

1 February 2016

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PubMed publication ID

4 January 2017

International Journal of Dermatology

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PubMed publication ID

4 January 2017

55

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4 January 2017

2

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4 January 2017

201–207

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PubMed publication ID

4 January 2017

Multiple local and recent founder effects of TGM1 in Spanish families

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

The genetics of ichthyosis: a primer for epidemiologists

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

Clinical investigation of acitretin in children with severe inherited keratinization disorders in China

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

Morphological character of pseudoxanthoma elasticum observed by multiphoton microscopy

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

S100A11, S100A10, annexin I, desmosomal proteins, small proline-rich proteins, plasminogen activator inhibitor-2, and involucrin are components of the cornified envelope of cultured human epidermal keratinocytes

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

Presence in human epidermal cells of a soluble protein precursor of the cross-linked envelope: Activation of the cross-linking by calcium ions

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice.

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects

1 reference

https://api.crossref.org/works/10.1111%2FIJD.12806

21 January 2018

Identifiers

10.1111/IJD.12806

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PubMed publication ID

1 reference

PubMed publication ID

4 January 2017

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