Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. (Q34489270)

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16 January 2020

title

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris (English)

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Richard B. Presland

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Irwin McLean

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Aileen Sandilands

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Gráinne O'Regan

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Haihui Liao

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David R Goudie

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Ana Terron-Kwiatkowski

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object named as

Ana Terron-Kwiatkowski

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Sherri J Bale

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John J DiGiovanna

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Philip Fleckman

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Sue Lewis-Jones

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Gehan Arseculeratne

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Ann Sergeant

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author name string

Frances J D Smith

1

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Linda E Campbell

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Yiwei Zhao

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Alan T Evans

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Colin S Munro

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John G Compton

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language of work or name

English

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publication date

29 January 2006

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volume

38

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page(s)

337-342

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issue

3

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https://scigraph.springernature.com/pub.10.1038/ng1743

16 January 2020

exact match

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cites work

Clinical features of autosomal dominant and sex-linked ichthyosis in an English population

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7 January 2021

Characterization of a class of cationic proteins that specifically interact with intermediate filaments

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7 January 2021

Filaggrin: a keratin filament associated protein

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7 January 2021

Keratin bundling proteins

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7 January 2021

Organization, structure, and polymorphisms of the human profilaggrin gene

1 reference

7 January 2021

The cornified envelope: a model of cell death in the skin

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7 January 2021

Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal

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7 January 2021

Differential patterns of filaggrin expression in lamellar ichthyosis

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7 January 2021

Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules

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7 January 2021

Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris.

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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

Characterization of the mouse loricrin gene: linkage with profilaggrin and the flaky tail and soft coat mutant loci on chromosome 3.

1 reference

7 January 2021

Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1

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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

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7 January 2021

Linkage analysis suggests a locus of ichthyosis vulgaris on 1q22

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7 January 2021

Profilaggrin is a major epidermal calcium-binding protein

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7 January 2021

Evidence for specific proteolytic cleavage of the N-terminal domain of human profilaggrin during epidermal differentiation

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7 January 2021

Functional analysis of the profilaggrin N-terminal peptide: identification of domains that regulate nuclear and cytoplasmic distribution

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7 January 2021

Genetic heterogeneity in lamellar ichthyosis

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7 January 2021

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families

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7 January 2021

Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens

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7 January 2021

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

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7 January 2021

Identifiers

DOI

10.1038/NG1743

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16 January 2020

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