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Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations.

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Title: Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations.
Authors: Mosti F; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Neurobiology, Duke University School of Medicine, Durham, North Carolina, United States of America., Hoye ML; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America., Escobar-Tomlienovich CF; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Neurobiology, Duke University School of Medicine, Durham, North Carolina, United States of America., Silver DL; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Neurobiology, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Cell Biology, Duke University School of Medicine, Durham, North Carolina, United States of America.; Duke Institute for Brain Sciences and Duke Regeneration Center, Duke University School of Medicine, Durham, North Carolina, United States of America.
Source: PLoS genetics [PLoS Genet] 2025 Jan 21; Vol. 21 (1), pp. e1011555. Date of Electronic Publication: 2025 Jan 21 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations.
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  Data: <searchLink fieldCode="AU" term="%22Mosti+F%22">Mosti F</searchLink>; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Neurobiology, Duke University School of Medicine, Durham, North Carolina, United States of America.<br /><searchLink fieldCode="AU" term="%22Hoye+ML%22">Hoye ML</searchLink>; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America.<br /><searchLink fieldCode="AU" term="%22Escobar-Tomlienovich+CF%22">Escobar-Tomlienovich CF</searchLink>; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Neurobiology, Duke University School of Medicine, Durham, North Carolina, United States of America.<br /><searchLink fieldCode="AU" term="%22Silver+DL%22">Silver DL</searchLink>; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Neurobiology, Duke University School of Medicine, Durham, North Carolina, United States of America.; Department of Cell Biology, Duke University School of Medicine, Durham, North Carolina, United States of America.; Duke Institute for Brain Sciences and Duke Regeneration Center, Duke University School of Medicine, Durham, North Carolina, United States of America.
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        Value: 10.1371/journal.pgen.1011555
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