Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.S2649delFs
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FLG

NM_002016.2:p.S2649delFs

Associated Papers

Symmetrical acral keratoderma associated with new variants in the filaggrin gene.

Luo W et al.

European Journal of Dermatology : Ejd, 2024

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.

Zhang J et al.

Molecular Medicine Reports, 2024

Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis.

Clabbers J et al.

The Journal of Allergy and Clinical Immunology, 2024

Variants in the Gene Encoding Filaggrin Cause Autosomal-Dominant Symmetrical Acral Keratoderma.

Liu C et al.

The Journal of Investigative Dermatology, 2023

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

Factors associated with persistence of early-onset atopic dermatitis up to the age of 12 years: a prospective cohort study in China.

Zhang Z et al.

European Journal of Dermatology : Ejd, 2021

Massively Parallel Sequencingof the Filaggrin Gene Reveals an Association Between FLG Loss-of-function Mutations and Leprosy.

Shi W et al.

Acta Dermato-venereologica, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Filaggrin gene mutations with special reference to atopic dermatitis.

Gupta J et al.

Current Treatment Options in Allergy, 2020

Unique variants in the FLG gene and FERMT1 gene in a Chinese patient with ichthyosis and Kindler syndrome.

Zheng BW et al.

Jaad Case Reports, 2019

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information

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

The study of filaggrin gene mutations and copy number variation in atopic dermatitis patients from Volga-Ural region of Russia.

Gimalova GF et al.

Gene, 2016

Novel FLG null mutations in Korean patients with atopic dermatitis and comparison of the mutational spectra in Asian populations.

Park J et al.

The Journal of Dermatology, 2015

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

Mutations analysis in filaggrin gene in northern China patients with atopic dermatitis.

Li M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population.

Hu Z et al.

Human Genetics, 2012

Filaggrin mutations associated with skin and allergic diseases.

Irvine AD et al.

The New England Journal of Medicine, 2011

[Association of filaggrin gene polymorphism with atopic dermatitis in southern Chinese Han population].

Li CX et al.

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

Full sequencing of the FLG gene in Italian patients with atopic eczema: evidence of new mutations, but lack of an association.

Cascella R 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

Filaggrin gene defects and the risk of developing allergic disorders.

Osawa R et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2011

Novel and recurrent mutations in the filaggrin gene in Chinese patients with ichthyosis vulgaris.

Zhang X et al.

The British Journal of Dermatology, 2010

FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.

Akiyama M

The British Journal of Dermatology, 2010

Association analysis of filaggrin gene mutations and atopic dermatitis in Northern China.

Ma L et al.

The British Journal of Dermatology, 2010

FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema.

Nemoto-Hasebe I et al.

The British Journal of Dermatology, 2009

Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations.

Hsu CK et al.

The British Journal of Dermatology, 2009

Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup.

Oji V et al.

The British Journal of Dermatology, 2009

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

Chen H et al.

The Journal of Investigative Dermatology, 2008

Filaggrin and the great epidermal barrier grief.

McGrath JA

The Australasian Journal of Dermatology, 2008

Neonatal Filaggrin Genetic Screening and Counseling to Prevent Atopic Dermatitis in High-Risk Infants.

Chen HY et al.

Dermatitis : Contact, Atopic, Occupational, Drug, 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."