Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.Q1701*
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FLG

NM_002016.2:p.Q1701*

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

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

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

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

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

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

Filaggrin mutations associated with skin and allergic diseases.

Irvine AD et al.

The New England Journal of Medicine, 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

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

Kawasaki H et al.

Current Problems in Dermatology, 2011

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

Nomura Y et al.

Journal of Dermatological Science, 2010

FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.

Akiyama M

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 Mutation in Pediatric Patients with Atopic Dermatitis: A Look into Indian Gene Pool, a Pilot Study.

Rajeshwari KA et al.

Indian Journal of Dermatology, 0

Exploring filaggrin gene polymorphisms in Indian children with atopic dermatitis: Hitherto an unchartered territory.

Bhatia R et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

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