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DDX24 Mutation Alters NPM1 Phase Behavior and Disrupts Nucleolar Homeostasis in Vascular Malformations
Point mutations in the DEAD-box helicase DDX24 are associated with vascular malformations such as multi-organ venous and lymphatic defect (MOVLD) syndrome and Budd-Chiari syndrome, with the pathogenesis largely uncharacterized. DDX24 is mainly located in the nucleolus, where nucleophosmin (NPM1) reg...
Autores principales: | Zhang, Haopei, Chen, Qiuyue, Zhang, Qianqian, Gan, Hairun, Li, Hanjie, Chen, Shoudeng, Shan, Hong, Pang, Pengfei, He, Huanhuan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Ivyspring International Publisher
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496494/ https://www.ncbi.nlm.nih.gov/pubmed/37705750 http://dx.doi.org/10.7150/ijbs.84097 |
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