Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.Q1768delFs
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FLG

NM_002016.2:p.Q1768delFs

Associated Papers

[Mouse models for spontaneous dermatitis due to impaired skin barrier formation].

Sasaki T et al.

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2014

A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis.

Sasaki T et al.

The Journal of Allergy and Clinical Immunology, 2013

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

Saunders SP et al.

The Journal of Allergy and Clinical Immunology, 2013

The human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the 'fused genes' family.

Kypriotou M et al.

Experimental Dermatology, 2012

Loss-of-function mutations within the filaggrin gene and atopic dermatitis.

Kawasaki H et al.

Current Problems in Dermatology, 2011

Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens.

Scharschmidt TC et al.

The Journal of Allergy and Clinical Immunology, 2009

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

Fallon PG et al.

Nature Genetics, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."