Ziftomenib, a potent menin-KMT2A inhibitor, induces leukemia regression and reduces tumor burden in models of KMT2A-rearranged leukemia, with strong gene downregulation.
- 6 cites
Hedgehog Signaling Pathway Studies
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OCRL deficiency in Lowe syndrome causes mitochondrial dysfunction, impaired cilia-related Sonic Hedgehog signaling, and disrupted neuronal differentiation across multiple models.
- Open access
Aminopeptidase N serves as a receptor for hedgehog merbecoviruses, with species-specific binding revealed by cryo-EM analysis.
- Open access
Cilia beating of ependymal cells maintains adult neural stem cell quiescence through PKD1/2-TRPM3-mediated mechanical forces, with brief inhibition activating stem cells in vivo.
- 2 cites
A novel CDC45 variant and a recurrent East Asian variant were identified in a Chinese MGORS7 patient, expanding the mutational spectrum of the disorder.
- Open access
Bi-allelic loss-of-function variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies in seven individuals from five families.
Functional validation confirms the PKD1 c.7489 + 5G>A variant causes pathogenic exon skipping in an ADPKD family, enabling successful prevention of disease transmission.
- Open access
Ziftomenib, a potent menin-KMT2A inhibitor, induces leukemia regression and reduces tumor burden in models of KMT2A-rearranged leukemia, with strong gene downregulation.
- 6 cites
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