16p11.2 Copy Number Variations and Neurodevelopmental Disorders
Copyright © 2020 Elsevier Ltd. All rights reserved..
Copy number variations (CNVs) of the human 16p11.2 genetic locus are associated with a range of neurodevelopmental disorders, including autism spectrum disorder, intellectual disability, and epilepsy. In this review, we delineate genetic information and diverse phenotypes in individuals with 16p11.2 CNVs, and synthesize preclinical findings from transgenic mouse models of 16p11.2 CNVs. Mice with 16p11.2 deletions or duplications recapitulate many core behavioral phenotypes, including social and cognitive deficits, and exhibit altered synaptic function across various brain areas. Mechanisms of transcriptional dysregulation and cortical maldevelopment are reviewed, along with potential therapeutic intervention strategies.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:43 |
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| Enthalten in: |
Trends in neurosciences - 43(2020), 11 vom: 01. Nov., Seite 886-901 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Rein, Benjamin [VerfasserIn] |
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| Links: |
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| Anmerkungen: |
Date Completed 18.08.2021 Date Revised 02.11.2021 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.tins.2020.09.001 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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NLM315644354 |
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| 520 | |a Copy number variations (CNVs) of the human 16p11.2 genetic locus are associated with a range of neurodevelopmental disorders, including autism spectrum disorder, intellectual disability, and epilepsy. In this review, we delineate genetic information and diverse phenotypes in individuals with 16p11.2 CNVs, and synthesize preclinical findings from transgenic mouse models of 16p11.2 CNVs. Mice with 16p11.2 deletions or duplications recapitulate many core behavioral phenotypes, including social and cognitive deficits, and exhibit altered synaptic function across various brain areas. Mechanisms of transcriptional dysregulation and cortical maldevelopment are reviewed, along with potential therapeutic intervention strategies | ||
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