Associated Papers
Exome sequencing reveals rare loss-of-function mutations in FLG and immune genes in patients with multiple food allergies.
Khanshour AM et al.
The Journal of Allergy and Clinical Immunology, 2026
Decoding Genetic Disease Through the Skin: Lessons From the UDN.
Sivadas A et al.
International Journal of Dermatology, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
Gene-environment interaction analysis in atopic eczema: evidence from large population datasets and modelling in vitro.
Standl M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Large Thymus Size at 2 Months Is Associated With Increased Risk of Atopic Dermatitis at Age 2.
Frier Ruge I et al.
Allergy, 2025
Genetic Background of Eosinophilic Esophagitis and Esophageal Atresia in Children.
Ulkersoy I et al.
Digestive Diseases and Sciences, 2025
Gene-Environment Interaction Affects Risk of Atopic Eczema: Population and In Vitro Studies.
Standl M et al.
Allergy, 2025
Novel Filaggrin Variants Are Associated with Ichthyosis Vulgaris in Mexicans.
González-Huerta LM et al.
Genes, 2025
Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.
Lima de Souza S et al.
Journal of Clinical Immunology, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Trajectories of egg sensitization in childhood: Two birth cohorts in Asia and Europe.
Nakamura T et al.
Allergy, 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
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Novel loss-of-function variants in filaggrin exon 3 in patients with severe atopic dermatitis.
Bellinato F et al.
Archives of Dermatological Research, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Filaggrin Mutation Status and Prevention of Atopic Dermatitis with Maternal Probiotic Supplementation.
Zakiudin DP et al.
Acta Dermato-venereologica, 2024
Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.
Virolainen SJ et al.
Jci Insight, 2024
Children with asthma and eczema carrying filaggrin loss-of-function mutations have increased antibiotic use through to adulthood.
Holden C et al.
Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2024
Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis.
Clabbers J et al.
The Journal of Allergy and Clinical Immunology, 2024
Infant lung function and early skin barrier impairment in the development of asthma at age 3 years.
Färdig M et al.
Allergy, 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
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Inflammation-related proteins in blood after dermal exposure to some common chemicals depend on the skin barrier gene filaggrin - a human experimental study.
Liljedahl ER et al.
Environmental Toxicology and Pharmacology, 2024
Reduced Skin Microbiome Diversity in Infancy Is Associated with Increased Risk of Atopic Dermatitis in High-Risk Children.
Halling AS et al.
The Journal of Investigative Dermatology, 2023
Birth mode is associated with development of atopic dermatitis in infancy and early childhood.
Hoel ST et al.
The Journal of Allergy and Clinical Immunology. Global, 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
Allergic disease trajectories up to adolescence: Characteristics, early-life, and genetic determinants.
Kilanowski A et al.
Allergy, 2023
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
FinnGen provides genetic insights from a well-phenotyped isolated population.
Kurki MI et al.
Nature, 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
Phenotypes, endotypes and genotypes of atopic dermatitis and allergy in populations of African ancestry on the continent and diaspora.
Lunjani N et al.
Frontiers in Allergy, 2023
Skin Barrier Function and Infant Tidal Flow-Volume Loops-A Population-Based Observational Study.
Färdig M et al.
Children (basel, Switzerland), 2022
Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.
Ullah A et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2022
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.
Spedicati B et al.
Genes, 2022
Filaggrin loss-of-function mutations are associated with persistence of egg and milk allergy.
Kalb B et al.
The Journal of Allergy and Clinical Immunology, 2022
Factors associated with severity of atopic dermatitis - a Finnish cross-sectional study.
Salava A et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
A small proline-rich protein (SPRR) gene variant contributes to atopic eczema and eczema-associated asthma susceptibility.
Dębińska A et al.
Postepy Dermatologii I Alergologii, 2022
Keratosis pilaris and filaggrin loss-of-function mutations in patients with atopic dermatitis - Results of a Finnish cross-sectional study.
Salava A et al.
The Journal of Dermatology, 2022
Genetic Variants in Epidermal Differentiation Complex Genes as Predictive Biomarkers for Atopic Eczema, Allergic Sensitization, and Eczema-Associated Asthma in a 6-Year Follow-Up Case-Control Study in Children.
Dębińska A et al.
Journal of Clinical Medicine, 2022
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Taha I et al.
Genes, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Revisiting the Roles of Filaggrin in Atopic Dermatitis.
Moosbrugger-Martinz V et al.
International Journal of Molecular Sciences, 2022
Early-life predictors and risk factors of peanut allergy, and its association with asthma in later-life: Population-based birth cohort study.
Kotsapas C et al.
Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology, 2022
Increasing severity of early-onset atopic dermatitis, but not late-onset, associates with development of aeroallergen sensitization and allergic rhinitis in childhood.
Schoos AM et al.
Allergy, 2022
Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis.
Cárdenas GV et al.
International Journal of Dermatology, 2022