Lista de obras -

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.

artículo científico publicado en 2009

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

Clinical Severity Correlates with Impaired Barrier in Filaggrin-Related Eczema

scientific article published on 25 September 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

De Novo Occurrence of the Filaggrin Mutation p.R501X with Prevalent Mutation c.3321delA in a Japanese Family with Ichthyosis Vulgaris Complicated by Atopic Dermatitis

artículo científico publicado en 2007

Filaggrin in atopic dermatitis.

scientific article published on 05 September 2008

Filaggrin in the frontline: role in skin barrier function and disease

artículo científico publicado en 2009

Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency.

artículo científico publicado en 2012

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

article

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

artículo científico publicado en 2007

Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis

artículo científico publicado en 2014

Generation and characterisation of keratin 7 (K7) knockout mice

artículo científico publicado en 2013

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

artículo científico publicado en 2012

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect

artículo científico publicado en 2011

Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma

artículo científico publicado en 2010

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

artículo científico publicado en 2006

Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin

artículo científico publicado en 2012

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

Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis

article

Reliability and validity of genotyping filaggrin null mutations.

artículo científico publicado en 2012

South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin

artículo científico publicado en 2014

Specific Filaggrin Mutations Cause Ichthyosis Vulgaris and Are Significantly Associated with Atopic Dermatitis in Japan

scientific article published on 17 January 2008

Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects

scientific journal article

Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris

scientific article published on 31 January 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 homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.

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

Clinical Severity Correlates with Impaired Barrier in Filaggrin-Related Eczema

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

De Novo Occurrence of the Filaggrin Mutation p.R501X with Prevalent Mutation c.3321delA in a Japanese Family with Ichthyosis Vulgaris Complicated by Atopic Dermatitis

Filaggrin in atopic dermatitis.

Filaggrin in the frontline: role in skin barrier function and disease

Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency.

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

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis

Generation and characterisation of keratin 7 (K7) knockout mice

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect

Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma

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

Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin

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

Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis

Reliability and validity of genotyping filaggrin null mutations.

South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin

Specific Filaggrin Mutations Cause Ichthyosis Vulgaris and Are Significantly Associated with Atopic Dermatitis in Japan

Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects

Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris

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