Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.Q1790*
Back to variants list

FLG

NM_002016.2:p.Q1790*

Associated Papers

Polygenic risk scores for Crohn's disease risk prediction in a Chinese population: insights from multi-ethnic genome-wide association studies.

Guan L et al.

European Journal of Medical Research, 2026

41545884 (PubMed )
Supplement: 40001_2026_3838_MOESM1_ESM.xlsx › Table_S1

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

Nakamura T et al.

Allergy, 2025

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Wu TH et al.

Scientific Reports, 2023

36918699 (PubMed )
Supplement: 41598_2023_31134_MOESM1_ESM.pdf

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

Factors associated with persistence of early-onset atopic dermatitis up to the age of 12 years: a prospective cohort study in China.

Zhang Z et al.

European Journal of Dermatology : Ejd, 2021

Massively Parallel Sequencingof the Filaggrin Gene Reveals an Association Between FLG Loss-of-function Mutations and Leprosy.

Shi W et al.

Acta Dermato-venereologica, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Uncrossed corticospinal tracts in a patient with ichthyosis and hemiparesis: a case report.

Yang H et al.

Bmc Neurology, 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

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants.

Wong XFCC et al.

The Journal of 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

Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis.

Mizuno O et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015

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

Kono M et al.

Allergy, 2014

Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV.

Li M et al.

The British Journal of Dermatology, 2013

Ichthyosis vulgaris: the filaggrin mutation disease.

Thyssen JP et al.

The British Journal of Dermatology, 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

Interactions between FLG mutations and allergens in atopic dermatitis.

Li M et al.

Archives of Dermatological Research, 2012

Associations of FLG mutations between ichthyosis vulgaris and atopic dermatitis in Han Chinese.

Zhang H et al.

Allergy, 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

Mutations in the filaggrin gene in Han Chinese patients with atopic dermatitis.

Zhang H et al.

Allergy, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."