Associated Papers
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
Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.
Zeng Z et al.
Human Genomics, 2025
Trajectories of egg sensitization in childhood: Two birth cohorts in Asia and Europe.
Nakamura T et al.
Allergy, 2025
Clinical application of whole exome sequencing for recurrent early pregnancy loss.
Liu C et al.
Asian Journal of Surgery, 2024
Symmetrical acral keratoderma associated with new variants in the filaggrin gene.
Luo W et al.
European Journal of Dermatology : Ejd, 2024
Association between filaggrin gene mutations and the clinical features of molluscum contagiosum: The Yamanashi Adjunct Study of the Japan Environment and Children's Study.
Kojima R et al.
The Journal of Dermatology, 2024
Severe atopic dermatitis with cutis laxa caused by a variant in the ELN gene.
Katsumi T et al.
Jaad Case Reports, 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
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
Identification of potential susceptibility genes in patients with primary Sjögren's syndrome-associated pulmonary arterial hypertension through whole exome sequencing.
Li M et al.
Arthritis Research & Therapy, 2023
Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China.
Wei SJ et al.
Bmc Genomics, 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
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
A novel method for noninvasive diagnosis of monogenic diseases from circulating fetal cells.
Chang L et al.
Prenatal Diagnosis, 2021
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
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
Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.
Smieszek SP 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
Dysregulation of neuron differentiation in an autistic savant with exceptional memory.
Song J et al.
Molecular Brain, 2019
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
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
Palmar hyperlinearity in early childhood atopic dermatitis is associated with filaggrin mutation and sensitization to egg.
Fukuie T et al.
Pediatric Dermatology, 2019
Peptide nucleic acid (PNA) probe-based analysis to detect filaggrin mutations in atopic dermatitis patients.
Hwang J et al.
Experimental 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
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey.
Mak CC et al.
Npj Genomic Medicine, 2018
Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome.
Zhang Q et al.
Gene, 2017
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
It Remains Unknown Whether Filaggrin Gene Mutations Evolved to Increase Cutaneous Synthesis of Vitamin D.
Thyssen JP et al.
Genome Biology and Evolution, 2017
Filaggrin Mutation in Korean Patients with Atopic Dermatitis.
On HR et al.
Yonsei Medical Journal, 2017
Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis.
Sekiya A et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.
Kim M et al.
Plos One, 2017
FLG mutations in the East Asian atopic dermatitis patients: genetic and clinical implication.
Li K et al.
Experimental Dermatology, 2016
A rare variant in CYP27A1 and its association with atopic dermatitis with high serum total IgE.
Suzuki H et al.
Allergy, 2016
Clinical characteristics of Korean patients with filaggrin-related atopic dermatitis.
Park KY et al.
Clinical and Experimental Dermatology, 2016
Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.
Lee NR et al.
Journal of Korean Medical Science, 2016
An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.
Park KY et al.
Journal of Korean Medical Science, 2016
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
Filaggrin loss-of-function mutations are not a predisposing factor for atopic dermatitis in an Ishigaki Island under subtropical climate.
Sasaki T et al.
Journal of Dermatological Science, 2014
Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations.
Kono M et al.
Allergy, 2014
Atopic dermatitis presenting as generalized poikiloderma with filaggrin gene mutation.
Nakazawa S et al.
The Journal of Dermatology, 2014
Food sensitization in Japanese infants is associated with a common Filaggrin variant.
Nomura T et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2013
Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population.
Hu Z et al.
Human Genetics, 2012