Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.E2422*
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FLG

NM_002016.2:p.E2422*

Associated Papers

Yield of Exome Sequencing for Mendelian Disorders Screening in Asymptomatic Fetuses Undergoing Prenatal Diagnosis: A Retrospective Analysis of 1766 Cases.

Wang G et al.

Prenatal Diagnosis, 2025

Gene variants associated with skin barrier dysfunction in atopic dermatitis: a systematic review and meta-analysis.

Cordeiro PL et al.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2025

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

Luo W et al.

European Journal of Dermatology : Ejd, 2024

Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.

Virolainen SJ et al.

Jci Insight, 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

Ichthyosis vulgaris: An updated review.

Jaffar H et al.

Skin Health and Disease, 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

DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics.

Wang WC et al.

Human Genomics, 2022

36289533 (PubMed )
Supplement: 40246_2022_424_MOESM1_ESM.xlsx › ___1

Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot.

Pan Y et al.

Journal of Thoracic Disease, 2022

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

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

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

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

Smieszek SP et al.

Scientific Reports, 2020

Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.

Chang YS et al.

Molecular Genetics & Genomic Medicine, 2019

Filaggrin gene mutations in hand eczema patients in the Indian subcontinent: A prospective case-control study.

Handa S et al.

Contact Dermatitis, 2019

Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients.

Hassani B et al.

International Journal of Dermatology, 2018

Peptide nucleic acid (PNA) probe-based analysis to detect filaggrin mutations in atopic dermatitis patients.

Hwang J et al.

Experimental Dermatology, 2018

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

Filaggrin mutations and Molluscum contagiosum skin infection in patients with atopic dermatitis.

Manti S et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2017

It Remains Unknown Whether Filaggrin Gene Mutations Evolved to Increase Cutaneous Synthesis of Vitamin D.

Thyssen JP et al.

Genome Biology and Evolution, 2017

28338939 (PubMed )
Supplement: evx049_Supp.xlsx › LoF_SNPs_in_FLG__and_detailed_i

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

FLG mutations in the East Asian atopic dermatitis patients: genetic and clinical implication.

Li K et al.

Experimental Dermatology, 2016

An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.

Park KY et al.

Journal of Korean Medical Science, 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

Genetic susceptibility for cow's milk allergy in Dutch children: the start of the allergic march?

Henneman P et al.

Clinical and Translational Allergy, 2015

Filaggrin mutations in a Western siberian population and their association with atopic dermatitis in children.

Komova EG et al.

Genetic Testing and Molecular Biomarkers, 2014

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

Mutations in the filaggrin gene and food allergy.

Ogrodowczyk A et al.

Przeglad Gastroenterologiczny, 2014

Mutations in the Filaggrin are Predisposing Factor in Korean Children With Atopic Dermatitis.

Yu HS et al.

Allergy, Asthma & Immunology Research, 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

Interactions between FLG mutations and allergens in atopic dermatitis.

Li M et al.

Archives of Dermatological Research, 2012

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

Filaggrin polymorphism P478S, IgE level, and atopic phenotypes.

Wang IJ et al.

The British Journal of 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

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

Sandilands A et al.

The Journal of Investigative Dermatology, 2007

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

Sandilands A et al.

Nature Genetics, 2007

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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."