List of works - Aileen Sandilands

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 15 November 2007

Filaggrin in atopic dermatitis.

scientific article published on 05 September 2008

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

scientific article (publication date: May 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.

scientific article published on 8 February 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.

scientific article published on June 2007

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

scientific article

Generation and characterisation of keratin 7 (K7) knockout mice

scientific article

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

scientific article published on 14 October 2012

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

scientific article published on 10 November 2011

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

scientific article

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

scientific article

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

scientific 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

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.

scientific article published on 07 December 2012

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

scientific article published on January 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

scientific article

List of works by Aileen Sandilands

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