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WISP1 links WNT signaling, cytoskeletal remodeling, and metabolism to drive fibroblast-mediated fibrosis in CD, positioning WISP1 as a promising antifibrotic target.
The findings underscore the diagnostic potential of integrated long-read and multi-omic approaches for complex structural variant characterization, while illustrating persistent limitations of automated pipelines and highlighting unpredictable relationships between genomic, transcriptomic, and proteomic findings.
The identification of biallelic causative variants in AP4B1 established the diagnosis of monogenic “Spastic paraplegia 47, autosomal recessive” while the initial hypothesis of digenic inheritance was refuted.
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