Associated Papers
Whole-exome sequencing screening for candidate genes and variants associated with primary sporadic keratoconus in Chinese patients.
Song C et al.
Experimental Eye Research, 2024
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients.
Ho M et al.
Human Genomics, 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
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
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
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
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
Filaggrin gene mutations are associated with independent atopic asthma in Chinese patients.
Li M et al.
Allergy, 2011
Filaggrin mutations associated with skin and allergic diseases.
Irvine AD et al.
The New England Journal of Medicine, 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
Filaggrin null mutations are not a protective factor for acne vulgaris.
Common JE et al.
The Journal of Investigative Dermatology, 2011
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