Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema (Q57061506)

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28 December 2019

title

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema (English)

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28 December 2019

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Ana Terron-Kwiatkowski

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Ana Terron-Kwiatkowski

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author name string

Timothy H Clayton

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language of work or name

English

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publication date

8 April 2007

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28 December 2019

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volume

39

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issue

5

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page(s)

650-654

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https://scigraph.springernature.com/pub.10.1038/ng2020

28 December 2019

exact match

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cites work

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

1 reference

7 January 2021

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

1 reference

7 January 2021

Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis

1 reference

7 January 2021

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris

1 reference

7 January 2021

Null Mutations in the Filaggrin Gene (FLG) Determine Major Susceptibility to Early-Onset Atopic Dermatitis that Persists into Adulthood

1 reference

7 January 2021

Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations

1 reference

7 January 2021

Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis

1 reference

7 January 2021

Filaggrin loss-of-function variant contributes to atopic dermatitis risk in the population of Northern Germany

1 reference

7 January 2021

Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.

1 reference

7 January 2021

Two Common Loss-of-Function Mutations within the Filaggrin Gene Predispose for Early Onset of Atopic Dermatitis

1 reference

7 January 2021

Filaggrin mutations in children with severe atopic dermatitis

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7 January 2021

Fleshing out filaggrin phenotypes

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7 January 2021

Breaking the (Un)Sound Barrier: Filaggrin Is a Major Gene for Atopic Dermatitis

1 reference

7 January 2021

Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21

1 reference

7 January 2021

Organization, structure, and polymorphisms of the human profilaggrin gene

1 reference

7 January 2021

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

1 reference

7 January 2021

Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris

1 reference

7 January 2021

Moisturization and skin barrier function

1 reference

7 January 2021

Changes in environmental humidity affect the water-holding property of the stratum corneum and its free amino acid content, and the expression of filaggrin in the epidermis of hairless mice

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7 January 2021

Filaggrin linker segment peptide and cystatin alpha are parts of a complex of the cornified envelope of epidermis

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7 January 2021

Common deletion polymorphisms in the human genome.

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7 January 2021

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

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7 January 2021

Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci

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7 January 2021

Identifiers

DOI

10.1038/NG2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17417636%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

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