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Article

Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis.

Human molecular genetics - 6 Aug 2024

Nozawa Akifumi, Abe Taiki, Niihori Tetsuya, Ozeki Michio, Aoki Yoko, Ohnishi Hidenori

Abstract excerpt

Generalized lymphatic anomaly (GLA) and kaposiform lymphangiomatosis (KLA) are rare congenital disorders that arise through anomalous embryogenesis of the lymphatic system. A somatic activating NRAS p.Q61R variant has been recently detected in GLA and KLA tissues, suggesting that the NRAS p.Q61R variant plays an important role in the development of these diseases. To address this role, we studied the effect of...

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PMID: 38743908
DOI: 10.1093/hmg/ddae080

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