Author

Yumiko Ishimoto

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Open access Jul 2026

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities

It is shown that deleting Pkhd1 in mice disrupts Tfap2b regulation in developing eye tissues, causing congenital glaucoma-like defects and implicating TFAP2B dysregulation in disease risk.

Yumiko Ishimoto, L. F. Menezes, Naoki Nakaya et al. · Nature Communications · 0 citations