Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.R826*
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FLG

NM_002016.2:p.R826*

Associated Papers

Decoding Genetic Disease Through the Skin: Lessons From the UDN.

Sivadas A et al.

International Journal of Dermatology, 2026

Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.

Wild KT et al.

Genetics in Medicine Open, 2026

41584744 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Germline DNA Repair and Immune-metabolic Alterations Suggest a Potentially Distinct Form of Early-onset Prostate Cancer in Men of African Descent.

Loger JS et al.

European Urology Oncology, 2025

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.

Gimeno AF et al.

American Journal of Medical Genetics. Part A, 2025

Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.

Virolainen SJ et al.

Jci Insight, 2024

Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis.

Clabbers J et al.

The Journal of Allergy and Clinical Immunology, 2024

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Huang Y et al.

Frontiers in Genetics, 2023

36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1

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

Phenotypes, endotypes and genotypes of atopic dermatitis and allergy in populations of African ancestry on the continent and diaspora.

Lunjani N et al.

Frontiers in Allergy, 2023

Associations between child filaggrin mutations and maternal diet with the development of allergic diseases in children.

Venter C et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

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

Targeted resequencing showing novel common and rare genetic variants increases the risk of asthma in the Chinese Han population.

Liu J et al.

Journal of Clinical Laboratory Analysis, 2021

High-depth African genomes inform human migration and health.

Choudhury A et al.

Nature, 2020

33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19

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

Filaggrin gene mutations with special reference to atopic dermatitis.

Gupta J et al.

Current Treatment Options in Allergy, 2020

Filaggrin sequencing and bioinformatics tools.

Margolis DJ et al.

Archives of Dermatological Research, 2020

Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.

Smieszek SP et al.

Scientific Reports, 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

Association of Filaggrin Loss-of-Function Variants With Race in Children With Atopic Dermatitis.

Margolis DJ et al.

Jama Dermatology, 2019

Tiled array-based sequencing identifies enrichment of loss-of-function variants in the highly homologous filaggrin gene in African-American children with severe atopic dermatitis.

Mathyer ME et al.

Experimental Dermatology, 2018

Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans.

Margolis DJ et al.

The Journal of Investigative Dermatology, 2018

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

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

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-8.xlsx › S_Data_7

Ichthyosis vulgaris: the filaggrin mutation disease.

Thyssen JP et al.

The British Journal of Dermatology, 2013

Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population.

Hu Z et al.

Human Genetics, 2012

Filaggrin mutations associated with skin and allergic diseases.

Irvine AD et al.

The New England Journal of Medicine, 2011

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

Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.

Sinclair C et al.

The British Journal of Dermatology, 2009

Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis.

Polcari I et al.

Pediatric Dermatology, 0

Prevalence of filaggrin gene polymorphisms (exon-3) in patients with atopic dermatitis in a multiracial Brazilian population.

Laczynski CMM et al.

Anais Brasileiros De Dermatologia, 0

Targeted Filaggrin Gene (FLG) Sequencing: A Pilot Study among Indian Children with Atopic Dermatitis.

Somasundaram A et al.

Indian Dermatology Online Journal, 0

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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."