Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.S3296*
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FLG

NM_002016.2:p.S3296*

Associated Papers

Symmetrical Acrokeratoderma in a Japanese Patient With Two FLG Nonsense Variants.

Matsumura R et al.

The Journal of Dermatology, 2025

A comprehensive approach for identifying filaggrin mutations and copy number variants by long-read sequencing.

Yuda A et al.

Genomics, 2025

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

Nakamura T et al.

Allergy, 2025

Association between filaggrin gene mutations and the clinical features of molluscum contagiosum: The Yamanashi Adjunct Study of the Japan Environment and Children's Study.

Kojima R et al.

The Journal of Dermatology, 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

Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.

Suzuki Y et al.

Genes, 2023

36833371 (PubMed )
Supplement: genes-14-00443-s001.zip › genes-2152850-supplementary.xlsx › Table_S6

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

Filaggrin-gene mutation has minimal effect on the disease severity in the lesions of atopic dermatitis.

Ota M et al.

The Journal of Dermatology, 2021

Missense, silent, non-sense and frame-shift mutations in exon 3 of the filaggrin gene in patients with bronchial asthma, atopic dermatitis, allergic rhinitis and mixed atopy.

Salama RH et al.

Nucleosides, Nucleotides & Nucleic Acids, 2021

Multifaceted Analyses of Epidermal Serine Protease Activity in Patients with Atopic Dermatitis.

Nomura H et al.

International Journal of Molecular Sciences, 2020

Atopic dermatitis without serum immunoglobulin E elevation or loss-of-function filaggrin gene mutation in a patient with X-linked agammaglobulinemia.

Yamazaki E et al.

The Journal of Dermatology, 2020

Effect of filaggrin loss-of-function mutations on atopic dermatitis in young age: a longitudinal birth cohort study.

Koseki R et al.

Journal of Human Genetics, 2019

Palmar hyperlinearity in early childhood atopic dermatitis is associated with filaggrin mutation and sensitization to egg.

Fukuie T et al.

Pediatric Dermatology, 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

New insights into the phenotypes of atopic dermatitis linked with allergies and asthma in children: An overview.

Amat F et al.

Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2018

Prevalence of filaggrin gene mutations in patients with atopic dermatitis and ichthyosis vulgaris in Kyushu area of Japan and South Korea.

Teye K et al.

Journal of Dermatological Science, 2017

Filaggrin Mutation in Korean Patients with Atopic Dermatitis.

On HR et al.

Yonsei Medical Journal, 2017

Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis.

Sekiya A et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017

Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.

Kim M et al.

Plos One, 2017

29281699 (PubMed )
Supplement: pone.0190077.s001.xlsx › Original_data

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

Li K et al.

Experimental Dermatology, 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

Filaggrin loss-of-function mutations are not a predisposing factor for atopic dermatitis in an Ishigaki Island under subtropical climate.

Sasaki T et al.

Journal of Dermatological Science, 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

Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations.

Kono M et al.

Allergy, 2014

Atopic dermatitis presenting as generalized poikiloderma with filaggrin gene mutation.

Nakazawa S et al.

The Journal of Dermatology, 2014

Ichthyosis vulgaris: the filaggrin mutation disease.

Thyssen JP et al.

The British Journal of Dermatology, 2013

Food sensitization in Japanese infants is associated with a common Filaggrin variant.

Nomura T et al.

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

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

Filaggrin polymorphism P478S, IgE level, and atopic phenotypes.

Wang IJ et al.

The British Journal of 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

Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma.

Osawa R et al.

The Journal of Investigative Dermatology, 2010

Chromosome 11q13.5 variant: No association with atopic eczema in the Japanese population.

Nomura Y et al.

Journal of Dermatological Science, 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

S2554X mutation in the filaggrin gene is associated with allergen sensitization in the Japanese population.

Imoto Y et al.

The Journal of Allergy and Clinical Immunology, 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

Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: systematic review and meta-analysis.

van den Oord RA et al.

Bmj (clinical Research Ed.), 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

Pharmacogenomics in dermatology: from susceptibility genes to personalized therapy.

Pincelli C et al.

Experimental Dermatology, 2009

Clinical severity correlates with impaired barrier in filaggrin-related eczema.

Nemoto-Hasebe I et al.

The Journal of Investigative Dermatology, 2009

Filaggrin mutation c.3321delA in a Korean patient with ichthyosis vulgaris and atopic dermatitis.

Kang TW et al.

Dermatology (basel, Switzerland), 2009

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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."