Associated Papers
Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.
Hao N et al.
Human Genomics, 2026
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
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.
Xiang R et al.
Acta Dermato-venereologica, 2025
A comprehensive approach for identifying filaggrin mutations and copy number variants by long-read sequencing.
Yuda A et al.
Genomics, 2025
Trajectories of egg sensitization in childhood: Two birth cohorts in Asia and Europe.
Nakamura T et al.
Allergy, 2025
Dupilumab treatment for Chinese Nagashima-type palmoplantar keratoderma associated with atopic dermatitis: a case report.
Hua C et al.
Frontiers in Immunology, 2025
Gene variants associated with skin barrier dysfunction in atopic dermatitis: a systematic review and meta-analysis.
Cordeiro PL et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2025
Tofacitinib ameliorates skin inflammation in a patient with severe autosomal recessive congenital ichthyosis.
Lin YC et al.
Clinical and Experimental Dermatology, 2024
Evaluation of the genetic basis of familial-associated early-onset hematologic cancers in an ancestral/ethnically diverse population.
Feng Q et al.
Haematologica, 2024
Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.
Zhang J et al.
Molecular Medicine Reports, 2024
Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis.
Clabbers J et al.
The Journal of Allergy and Clinical Immunology, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Filaggrin and beyond: New insights into the skin barrier in atopic dermatitis and allergic diseases, from genetics to therapeutic perspectives.
Stefanovic N et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 2024
Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.
Alakloby OM et al.
Bmc Medical Genomics, 2023
Variants in the Gene Encoding Filaggrin Cause Autosomal-Dominant Symmetrical Acral Keratoderma.
Liu C et al.
The Journal of Investigative Dermatology, 2023
Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.
Perälä M et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2023
Ichthyosis vulgaris: An updated review.
Jaffar H et al.
Skin Health and Disease, 2023
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
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
Application of nanopore sequencing in identifying null mutations and intragenic copy number variations (CNVs) in FLG.
Lin YC et al.
Journal of Dermatological Science, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Polymorphisms of the filaggrin gene are associated with atopic dermatitis in the Caucasian population of Central Russia.
Churnosov M et al.
Gene, 2022
Association of FLG mutation with tumor mutation load and clinical outcomes in patients with gastric cancer.
Yicheng F et al.
Frontiers in Genetics, 2022
Metabolomics reveals microbial-derived metabolites associated with immunoglobulin E responses in filaggrin-related atopic dermatitis.
Chiu CY et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2021
Filaggrin-gene mutation has minimal effect on the disease severity in the lesions of atopic dermatitis.
Ota M et al.
The Journal of Dermatology, 2021
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
Filaggrin Loss-of-Function Mutations Are Risk Factors for Severe Food Allergy in Children with Atopic Dermatitis.
Astolfi A et al.
Journal of Clinical Medicine, 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
Filaggrin gene mutations with special reference to atopic dermatitis.
Gupta J et al.
Current Treatment Options in Allergy, 2020
Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.
Smieszek SP et al.
Scientific Reports, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 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
Dysbiotic Lesional Microbiome With Filaggrin Missense Variants Associate With Atopic Dermatitis in India.
Nath S et al.
Frontiers in Cellular and Infection Microbiology, 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
Aryl hydrocarbon receptor polymorphisms are associated with dry skin phenotypes in Chinese patients with atopic dermatitis.
Li ZZ et al.
Clinical and Experimental Dermatology, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Clinical Characteristics and Genetic Variations in Early-Onset Atopic Dermatitis Patients.
Kim BJ et al.
Annals of Dermatology, 2019
3D-Organotypic Cultures to Unravel Molecular and Cellular Abnormalities in Atopic Dermatitis and Ichthyosis Vulgaris.
Leman G et al.
Cells, 2019
Palmar hyperlinearity in early childhood atopic dermatitis is associated with filaggrin mutation and sensitization to egg.
Fukuie T et al.
Pediatric Dermatology, 2019
Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients.
Hassani B et al.
International Journal of Dermatology, 2018
Peptide nucleic acid (PNA) probe-based analysis to detect filaggrin mutations in atopic dermatitis patients.
Hwang J et al.
Experimental Dermatology, 2018
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018