Loss of function of ADNP by an intragenic inversion
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01323-x.pdf
Reference20 articles.
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3. Mandel S, Gozes I. Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex. J Biol Chem. 2007;282:34448–56.
4. Sun X, Yu W, Li L, Sun Y. ADNP controls gene expression through local chromatin architecture by association with BRG1 and CHD4. Front Cell Dev Biol. 2020 ;8:553.
5. Sun X, Peng X, Cao Y, Zhou Y, Sun Y. ADNP promotes neural differentiation by modulating Wnt/β-catenin signaling. Nat Commun. 2020;11:2984.
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1. Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome;European Journal of Human Genetics;2024-02-29
2. NAP (Davunetide): The Neuroprotective ADNP Drug Candidate Penetrates Cell Nuclei Explaining Pleiotropic Mechanisms;Cells;2023-09-11
3. A novel genomic mutation in ADNP leading to intellectual disability;European Journal of Human Genetics;2023-05-22
4. ADNP in reverse gear;European Journal of Human Genetics;2023-04-18
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