Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.S3247*
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FLG

NM_002016.2:p.S3247*

Associated Papers

Exome sequencing reveals rare loss-of-function mutations in FLG and immune genes in patients with multiple food allergies.

Khanshour AM et al.

The Journal of Allergy and Clinical Immunology, 2026

Gene-environment interaction analysis in atopic eczema: evidence from large population datasets and modelling in vitro.

Standl M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Gene-Environment Interaction Affects Risk of Atopic Eczema: Population and In Vitro Studies.

Standl M et al.

Allergy, 2025

Novel Filaggrin Variants Are Associated with Ichthyosis Vulgaris in Mexicans.

González-Huerta LM et al.

Genes, 2025

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Mighton C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Trajectories of egg sensitization in childhood: Two birth cohorts in Asia and Europe.

Nakamura T et al.

Allergy, 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

Novel loss-of-function variants in filaggrin exon 3 in patients with severe atopic dermatitis.

Bellinato F et al.

Archives of Dermatological Research, 2024

Filaggrin Mutation Status and Prevention of Atopic Dermatitis with Maternal Probiotic Supplementation.

Zakiudin DP et al.

Acta Dermato-venereologica, 2024

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

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

Children with asthma and eczema carrying filaggrin loss-of-function mutations have increased antibiotic use through to adulthood.

Holden C et al.

Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2024

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

Clabbers J et al.

The Journal of Allergy and Clinical Immunology, 2024

Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).

Wilson GN et al.

Current Issues in Molecular Biology, 2024

38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants

Filaggrin and beyond: New insights into the skin barrier in atopic dermatitis and allergic diseases, from genetics to therapeutic perspectives.

Stefanovic N et al.

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

Inflammation-related proteins in blood after dermal exposure to some common chemicals depend on the skin barrier gene filaggrin - a human experimental study.

Liljedahl ER et al.

Environmental Toxicology and Pharmacology, 2024

Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.

Perälä M et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2023

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

Phenotypes, endotypes and genotypes of atopic dermatitis and allergy in populations of African ancestry on the continent and diaspora.

Lunjani N et al.

Frontiers in Allergy, 2023

Filaggrin loss-of-function mutations are associated with persistence of egg and milk allergy.

Kalb B et al.

The Journal of Allergy and Clinical Immunology, 2022

Factors associated with severity of atopic dermatitis - a Finnish cross-sectional study.

Salava A et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

A small proline-rich protein (SPRR) gene variant contributes to atopic eczema and eczema-associated asthma susceptibility.

Dębińska A et al.

Postepy Dermatologii I Alergologii, 2022

Keratosis pilaris and filaggrin loss-of-function mutations in patients with atopic dermatitis - Results of a Finnish cross-sectional study.

Salava A et al.

The Journal of Dermatology, 2022

Genetic Variants in Epidermal Differentiation Complex Genes as Predictive Biomarkers for Atopic Eczema, Allergic Sensitization, and Eczema-Associated Asthma in a 6-Year Follow-Up Case-Control Study in Children.

Dębińska A et al.

Journal of Clinical Medicine, 2022

Revisiting the Roles of Filaggrin in Atopic Dermatitis.

Moosbrugger-Martinz V et al.

International Journal of Molecular Sciences, 2022

Early-life predictors and risk factors of peanut allergy, and its association with asthma in later-life: Population-based birth cohort study.

Kotsapas C et al.

Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2022

Increasing severity of early-onset atopic dermatitis, but not late-onset, associates with development of aeroallergen sensitization and allergic rhinitis in childhood.

Schoos AM et al.

Allergy, 2022

Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis.

Cárdenas GV et al.

International Journal of Dermatology, 2022

Associations between child filaggrin mutations and maternal diet with the development of allergic diseases in children.

Venter C et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

Modelling trajectories of parentally reported and physician-confirmed atopic dermatitis in a birth cohort study.

Nakamura T et al.

The British Journal of Dermatology, 2022

Polygenic prediction of atopic dermatitis improves with atopic training and filaggrin factors.

Arehart CH et al.

The Journal of Allergy and Clinical Immunology, 2022

The Skin and Nose Microbiome and Its Association with Filaggrin Gene Mutations in Pediatric Atopic Dermatitis.

van Mierlo MMF et al.

Dermatology (basel, Switzerland), 2022

Imputation provides an opportunity to study filaggrin ( FLG) null mutations in large population cohorts that lack bespoke genotyping.

Paternoster L et al.

Wellcome Open Research, 2022

Clinical examination for hyperlinear palms to determine filaggrin genotype: A diagnostic test accuracy study.

Bradshaw LE et al.

Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2021

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD et al.

Nature, 2021

34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM5_ESM.xlsx › SD2

Comparison of Epidermal Barrier Integrity in Adults with Classic Atopic Dermatitis, Atopic Prurigo and Non-Atopic Prurigo Nodularis.

Fölster-Holst R et al.

Biology, 2021

Four childhood atopic dermatitis subtypes identified from trajectory and severity of disease and internally validated in a large UK birth cohort.

Mulick AR et al.

The British Journal of Dermatology, 2021

Whole genome sequencing identifies novel genetic mutations in patients with eczema herpeticum.

Bin L et al.

Allergy, 2021

Increased Th22 cell numbers in a general pediatric population with filaggrin haploinsufficiency: The Generation R Study.

Looman KIM et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021

Filaggrin Loss-of-Function Mutations Are Risk Factors for Severe Food Allergy in Children with Atopic Dermatitis.

Astolfi A et al.

Journal of Clinical Medicine, 2021

Filaggrin Polymorphisms and the Uptake of Chemicals through the Skin-A Human Experimental Study.

Rietz Liljedahl E et al.

Environmental Health Perspectives, 2021

Very Elevated IgE, Atopy, and Severe Infection: A Genomics-Based Diagnostic Approach to a Spectrum of Diseases.

Chin A et al.

Case Reports in Immunology, 2021

Rare occurrence of common filaggrin mutations in Turkish children with food allergy and atopic dermatitis

Vardar Acar N et al.

Turkish Journal of Medical Sciences, 2020

Mutations of filament-aggregating protein gene in Romanian children diagnosed with atopic dermatitis.

Chiriac AE et al.

Experimental and Therapeutic Medicine, 2020

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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."