Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease

Abstract Autosomal recessive polycystic kidney disease (ARPKD) is a severe genetic disorder characterized by renal cystogenesis and hepatic fibrosis, primarily associated with PKHD1 mutations. While differential expression analysis (DEG) has identified key genes involved in ARPKD, their network-leve...

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Bibliographic Details
Main Authors: Nobuo Okui, Tsuyoshi Hachiya, Shigeo Horie
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-99048-y
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