Associated Papers
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients.
Ho M et al.
Human Genomics, 2024
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
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
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
34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1
Variant morphology and random chromosomal integration of BK polyomavirus in posttransplant urothelial carcinomas.
Bertz S et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Filaggrin sequencing and bioinformatics tools.
Margolis DJ et al.
Archives of Dermatological Research, 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
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
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