Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.G1234delFs
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FLG

NM_002016.2:p.G1234delFs

Associated Papers

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

Nakamura T et al.

Allergy, 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

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

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

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

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

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

Bin L et al.

Allergy, 2021

Filaggrin gene mutations with special reference to atopic dermatitis.

Gupta J et al.

Current Treatment Options in Allergy, 2020

Early-life inhalant allergen exposure, filaggrin genotype, and the development of sensitization from infancy to adolescence.

Simpson A et al.

The Journal of Allergy and Clinical Immunology, 2020

Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.

Seidl-Philipp M et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020

Changes in nano-mechanical properties of human epidermal cornified cells in children with atopic dermatitis.

Haftek M et al.

Wellcome Open Research, 2020

Variation at DENND1B and Asthma on the Island of Tristan da Cunha.

Duffy DL et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2019

Filaggrin mutations increase allergic airway disease in childhood and adolescence through interactions with eczema and aeroallergen sensitization.

Chan A et al.

Clinical and Experimental Allergy : Journal of the British Society for 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

Investigation of Skin Barrier Functions and Allergic Sensitization in Patients with Hyper-IgE Syndrome.

Mócsai G et al.

Journal of Clinical Immunology, 2015

Association of common filaggrin null mutations with atopy but not chronic rhinosinusitis.

Mahdavinia M et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2015

Sebaceous gland, hair shaft, and epidermal barrier abnormalities in keratosis pilaris with and without filaggrin deficiency.

Gruber R et al.

The American Journal of Pathology, 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

Filaggrin loss-of-function mutations are associated with food allergy in childhood and adolescence.

Venkataraman D et al.

The Journal of Allergy and Clinical Immunology, 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

Severe skin inflammation and filaggrin mutation similarly alter the skin barrier in patients with atopic dermatitis.

Mócsai G et al.

The British Journal of Dermatology, 2014

Association between P478S polymorphism of the filaggrin gene & atopic dermatitis.

Kim SY et al.

The Indian Journal of Medical Research, 2013

A familial study of filaggrin mutation in atopic dermatitis.

Mohiuddin MS et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2013

Ichthyosis vulgaris: the filaggrin mutation disease.

Thyssen JP et al.

The British Journal of Dermatology, 2013

The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis.

Fortugno P et al.

Human Molecular Genetics, 2012

One remarkable molecule: filaggrin.

Brown SJ et al.

The Journal of Investigative Dermatology, 2012

Interplay of filaggrin loss-of-function variants, allergic sensitization, and eczema in a longitudinal study covering infancy to 18 years of age.

Ziyab AH et al.

Plos One, 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

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 genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function.

Gruber R et al.

The American Journal of Pathology, 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

Distinct barrier integrity phenotypes in filaggrin-related atopic eczema following sequential tape stripping and lipid profiling.

Angelova-Fischer I et al.

Experimental 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

Loss-of-function mutations within the filaggrin gene and atopic dermatitis.

Kawasaki H et al.

Current Problems in Dermatology, 2011

A prospective study of filaggrin null mutations in keratoconus patients with or without atopic disorders.

Droitcourt C et al.

Dermatology (basel, Switzerland), 2011

Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes.

O'Regan GM et al.

The Journal of Allergy and Clinical Immunology, 2010

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

Human leukocyte antigen (DR1)-DQB1*0501 and (DR15)-DQB1*0602 haplotypes are associated with humoral responses to early food allergens in children.

Savilahti EM et al.

International Archives of Allergy and Immunology, 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

Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure.

Schuttelaar ML et al.

Allergy, 2009

Filaggrin mutations may confer susceptibility to chronic hand eczema characterized by combined allergic and irritant contact dermatitis.

Molin S et al.

The British Journal of Dermatology, 2009

Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children.

Brown SJ 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

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