Varaico: Literature-Extracted Genetic Variants

Gene:FLG
Variant:p.R1474*
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FLG

NM_002016.2:p.R1474*

Associated Papers

Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.

Brashear AM et al.

Scientific Reports, 2025

41152280 (PubMed )
Supplement: 41598_2025_21421_MOESM1_ESM.xlsx › Sheet1

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

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

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

The Skin and Nose Microbiome and Its Association with Filaggrin Gene Mutations in Pediatric Atopic Dermatitis.

van Mierlo MMF et al.

Dermatology (basel, Switzerland), 2022

35042220 (PubMed )
Supplement: drm-0238-0928-s01.pdf

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

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

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

Margolis DJ et al.

The Journal of Investigative Dermatology, 2018

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf

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

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

Clonal evolution in breast cancer revealed by single nucleus genome sequencing.

Wang Y et al.

Nature, 2014

25079324 (PubMed )
Supplement: NIHMS607979-supplement-1.pdf

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-5.xlsx › S_Data_4

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

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

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

Zhang H et al.

Allergy, 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

Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes.

O'Regan GM et al.

The Journal of Allergy and Clinical Immunology, 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

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

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

Filaggrin and the great epidermal barrier grief.

McGrath JA

The Australasian Journal of Dermatology, 2008

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

Sandilands A et al.

The Journal of Investigative Dermatology, 2007

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.

Sandilands A et al.

Nature Genetics, 2007

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

Neonatal Filaggrin Genetic Screening and Counseling to Prevent Atopic Dermatitis in High-Risk Infants.

Chen HY et al.

Dermatitis : Contact, Atopic, Occupational, Drug, 0

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