Author

Yu-jiao Chen

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Open access Sep 2026

Functional Validation of a CC2D2A Non-Canonical Splice-Site Variant Supports Prenatal Molecular Testing in Joubert Syndrome

Background: Joubert syndrome (JS) is a genetically heterogeneous ciliopathy wherein non-canonical splice-site (NCSS) variants are frequently reported as variants of uncertain significance (VUS), complicating prenatal counseling. We aimed to clarify the clinical significance of an NCSS in CC2D2A through functional valid...

Fang Wang, Jia-Ying Zhang, Chao Lu et al. · Diagnostics · 0 citations

Aug 2026

Transcriptomic- and metabolomic-based elucidation of macrophage inflammatory response in gestational bisphenol A (BPA)-induced cholesterol metabolic reprogramming.

Accumulating evidence reveals that bisphenol A (BPA) exposure triggered maternal lipid metabolism disorders and pregnancy complications, but the molecular regulatory networks driving metabolic reprogramming remain to be fully elucidated. This study employed an integrated multi-omics approach based on BPA-exposed animal...

Yu-jiao Chen, Yifan Liu, Meng Zhang et al. · Food and Chemical Toxicology · 0 citations