Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.S2554*
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FLG

NM_002016.2:p.S2554*

Associated Papers

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

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

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

Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.

Alakloby OM et al.

Bmc Medical Genomics, 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

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

Cárdenas GV et al.

International Journal of Dermatology, 2022

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

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

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

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

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

Dysbiotic Lesional Microbiome With Filaggrin Missense Variants Associate With Atopic Dermatitis in India.

Nath S et al.

Frontiers in Cellular and Infection Microbiology, 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

3D-Organotypic Cultures to Unravel Molecular and Cellular Abnormalities in Atopic Dermatitis and Ichthyosis Vulgaris.

Leman G et al.

Cells, 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

Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.

Wang X et al.

Bmc Medical Genetics, 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

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

A rare variant in CYP27A1 and its association with atopic dermatitis with high serum total IgE.

Suzuki H et al.

Allergy, 2016

A novel filaggrin gene mutation 7487delC in an Indonesian (Javanese) patient with atopic dermatitis.

Trisnowati N et al.

International Journal of 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

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 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

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

Kim SY et al.

The Indian Journal of Medical Research, 2013

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

Yu HS et al.

Allergy, Asthma & Immunology Research, 2013

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

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

Combined occurrence of filaggrin mutations and IL-10 or IL-13 polymorphisms predisposes to atopic dermatitis.

Lesiak A et al.

Experimental Dermatology, 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

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