Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.S417insFs
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FLG

NM_002016.2:p.S417insFs

Associated Papers

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

Clabbers J et al.

The Journal of Allergy and Clinical Immunology, 2024

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

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Targeted resequencing showing novel common and rare genetic variants increases the risk of asthma in the Chinese Han population.

Liu J et al.

Journal of Clinical Laboratory Analysis, 2021

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

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

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

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

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

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

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

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

Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis.

Polcari I et al.

Pediatric Dermatology, 0

Filaggrin Gene Mutation in Pediatric Patients with Atopic Dermatitis: A Look into Indian Gene Pool, a Pilot Study.

Rajeshwari KA et al.

Indian Journal of Dermatology, 0

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."