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A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

article

Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy

artículo científico publicado en 2013

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

article

Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex

artículo científico publicado en 2011

Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.

artículo científico publicado en 2007

Filaggrin null alleles are not associated with psoriasis

artículo científico publicado en 2007

Filaggrin null mutations and childhood atopic eczema: A population-based case-control study

article

Filaggrin null mutations are associated with increased asthma severity in children and young adults

artículo científico publicado en 2007

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

artículo científico publicado en 2006

Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy.

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

article

Prevalent and Low-Frequency Null Mutations in the Filaggrin Gene Are Associated with Early-Onset and Persistent Atopic Eczema

article

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

article

The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study

artículo científico publicado en 2008

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

artículo científico publicado en 2007

Lista de obras de

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy

Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk

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

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

Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex

Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.

Filaggrin null alleles are not associated with psoriasis

Filaggrin null mutations and childhood atopic eczema: A population-based case-control study

Filaggrin null mutations are associated with increased asthma severity in children and young adults

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

Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy.

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

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

Prevalent and Low-Frequency Null Mutations in the Filaggrin Gene Are Associated with Early-Onset and Persistent Atopic Eczema

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

The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study

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