Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.S2706*
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FLG

NM_002016.2:p.S2706*

Associated Papers

Rare Filaggrin Variants Are Associated with Pustular Skin Diseases in Asians.

Lo Piccolo L et al.

International Journal of Molecular Sciences, 2024

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

Next-generation variant exon screening: Moving forward in routine genetic disease investigations.

Wang C et al.

Genetics in Medicine Open, 2024

39669605 (PubMed )
Supplement: mmc1.pdf

In silico analysis of the profilaggrin sequence indicates alterations in the stability, degradation route, and intracellular protein fate in filaggrin null mutation carriers.

Paul AA et al.

Frontiers in Molecular Biosciences, 2023

37200867 (PubMed )
Supplement: Table1.DOCX

Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.

Smieszek SP et al.

Scientific Reports, 2020

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants.

Wong XFCC et al.

The Journal of Allergy and Clinical Immunology, 2018

Evidence That Loss-of-Function Filaggrin Gene Mutations Evolved in Northern Europeans to Favor Intracutaneous Vitamin D3 Production.

Thyssen JP et al.

Evolutionary Biology, 2014

Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV.

Li M et al.

The British Journal of Dermatology, 2013

Ichthyosis vulgaris: the filaggrin mutation disease.

Thyssen JP et al.

The British Journal of Dermatology, 2013

[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris].

Gu Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013

Filaggrin mutations associated with skin and allergic diseases.

Irvine AD et al.

The New England Journal of Medicine, 2011

Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese.

Zhang H et al.

Allergy, 2011

Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations.

Chen H et al.

The British Journal of Dermatology, 2011

Filaggrin null mutations are not a protective factor for acne vulgaris.

Common JE et al.

The Journal of Investigative Dermatology, 2011

Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis.

Zhang H et al.

Allergy, 2011

[Eczema herpeticum in a patient with atopic dermatitis, carrying r501x and 2282del4 filaggrin null mutations].

Valdés-Rodríguez R et al.

Gaceta Medica De Mexico, 0

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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."