Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Genetic Variant rs1801275 in Atopic Dermatitis: Prevalence and Clinical Implications in Vietnamese Population.
Nguyen THN et al.
Journal of Asthma and Allergy, 2025
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK13_het
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
Epidermal differentiation complex genetic variation in atopic dermatitis and peanut allergy.
Huffaker MF et al.
The Journal of Allergy and Clinical Immunology, 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
37200867 (PubMed )
Supplement: Table1.DOCX
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
Correlation of age-of-onset of Atopic Dermatitis with Filaggrin loss-of-function variant status.
Smieszek SP et al.
Scientific Reports, 2020
Full sequencing of the FLG gene in Italian patients with atopic eczema: evidence of new mutations, but lack of an association.
Cascella R et al.
The Journal of Investigative Dermatology, 2011
Filaggrin Gene Mutation in Pediatric Patients with Atopic Dermatitis: A Look into Indian Gene Pool, a Pilot Study.
Rajeshwari KA et al.
Indian Journal of Dermatology, 0
Targeted Filaggrin Gene (FLG) Sequencing: A Pilot Study among Indian Children with Atopic Dermatitis.
Somasundaram A et al.
Indian Dermatology Online Journal, 0
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