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Rare-variant collapsing analyses of asthma in the UK biobank.
Respir Investig
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Department of Environmental Science and Bioscience, Kristianstad University, Elmetorpsvägen 15, 291 39, Kristianstad, Sweden.
Asthma is a common health problem. Both common and rare genetic risk factors may contribute to asthma, but few large-scale whole-exome sequencing studies elucidating the contribution of rare variations to asthma have been published. Two published UK Biobank portals: the Genebass portal (N = 269,171) and the Astra Zeneca portal (N = 484,111) (https://azphewas.
View Article and Find Full Text PDFA comprehensive approach for identifying filaggrin mutations and copy number variants by long-read sequencing.
Genomics
July 2025
Department of Medical Genetics, Institute of Medicine, University of Tsukuba, Ibaraki, Japan. Electronic address:
Filaggrin (FLG) is essential for skin barrier function, but has highly diverse and complex mutations linked to various allergic and dermatological diseases. Current genotyping methods often fail to capture the full range of FLG variants, especially in regions with high sequence homology. To overcome this limitation, we developed a singleplex PCR method that amplifies FLG exon 3 using FLG-specific primers tailed with barcodes for sample identification, followed by long-read sequencing on the PacBio Sequel IIe system.
View Article and Find Full Text PDFAnalysis of Rare Coding Variants in 470,000 UK Biobank Participants Reveals Genetic Associations With Childhood Asthma Predisposition.
Int J Immunogenet
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UCL Genetics Institute, University College London, London, UK.
Previous studies of genetic contributions to risk of childhood asthma have implicated common variants with small effect sizes. Some studies using exome sequence data have reported associations with rare coding variants having larger effects on risk, notably an analysis of 145,000 subjects which found association with loss of function (LOF) variants in FLG, the gene coding for filaggrin. Here, we report the results of an analysis of rare nonsynonymous and LOF variants, carried out on the full UK Biobank cohort of 470,000 exome-sequenced participants.
View Article and Find Full Text PDFNovel Filaggrin Variants Are Associated with Ichthyosis Vulgaris in Mexicans.
Genes (Basel)
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Department of Medical Genetics, Centro Médico ISSEMYM Ecatepec, AV del Trabajo S/N, Col. El Carmen, Ecatepec 55000, Estado de México, Mexico.
Background/objective: Ichthyosis vulgaris (IV) is a genodermatosis caused by heterozygous, homozygous, or compound heterozygous variants in the filaggrin () gene on chromosome 1q21, which also predispose individuals to atopic dermatitis. Its incidence is 1 in 80-250 children. The phenotypic characteristics include palmar hyperlinearity, keratosis pilaris, and a fine scale that is most prominent over the lower abdomen, arms, and legs.
View Article and Find Full Text PDFAtopic Dermatitis in Indonesian Children: Association of Toilet Seat Dermatitis With Moderate-Severe Manifestation and Low Prevalence of Loss-of-Function Filaggrin Gene Variants.
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Department of Dermatology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.