Associated Papers
Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport.
Zhang Z et al.
The Journal of Clinical Investigation, 2026
Phenotype-genotype correlation in a cohort of 15 patients with hereditary ichthyosis.
Ma YJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Zhang J et al.
Molecular Medicine Reports, 2024
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 2024
39669605 (PubMed )
Supplement: mmc1.pdf
Variants in the Gene Encoding Filaggrin Cause Autosomal-Dominant Symmetrical Acral Keratoderma.
Liu C et al.
The Journal of Investigative Dermatology, 2023
Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.
Clabbers JMK et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
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
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
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
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.
Kim M et al.
Plos One, 2017
29281699 (PubMed )
Supplement: pone.0190077.s001.xlsx › Original_data
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
Select a paper to view details