Copy number variation and brain structure: lessons learned from chromosome 16p11.2

Recent work has linked specific genetic variation found in human populations to risk for developing neuropsychiatric diseases. How that risk is mediated through molecular-, cellular- and systems-level mechanisms now becomes the central question in this field. Two recent papers studying high-penetran...

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Detalles Bibliográficos
Autor principal: Stein, Jason L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Highlight
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329653/
https://www.ncbi.nlm.nih.gov/pubmed/25688292
http://dx.doi.org/10.1186/s13073-015-0140-8
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author Stein, Jason L
author_facet Stein, Jason L
author_sort Stein, Jason L
collection PubMed
description Recent work has linked specific genetic variation found in human populations to risk for developing neuropsychiatric diseases. How that risk is mediated through molecular-, cellular- and systems-level mechanisms now becomes the central question in this field. Two recent papers studying high-penetrance copy number variation at chromosome 16p11.2 find large changes in brain structure, refining hypotheses about the regions of the brain that are affected and implicating specific neurodevelopmental processes in these changes.
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spelling pubmed-43296532015-02-17 Copy number variation and brain structure: lessons learned from chromosome 16p11.2 Stein, Jason L Genome Med Research Highlight Recent work has linked specific genetic variation found in human populations to risk for developing neuropsychiatric diseases. How that risk is mediated through molecular-, cellular- and systems-level mechanisms now becomes the central question in this field. Two recent papers studying high-penetrance copy number variation at chromosome 16p11.2 find large changes in brain structure, refining hypotheses about the regions of the brain that are affected and implicating specific neurodevelopmental processes in these changes. BioMed Central 2015-02-16 /pmc/articles/PMC4329653/ /pubmed/25688292 http://dx.doi.org/10.1186/s13073-015-0140-8 Text en © Stein; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Highlight
Stein, Jason L
Copy number variation and brain structure: lessons learned from chromosome 16p11.2
title Copy number variation and brain structure: lessons learned from chromosome 16p11.2
title_full Copy number variation and brain structure: lessons learned from chromosome 16p11.2
title_fullStr Copy number variation and brain structure: lessons learned from chromosome 16p11.2
title_full_unstemmed Copy number variation and brain structure: lessons learned from chromosome 16p11.2
title_short Copy number variation and brain structure: lessons learned from chromosome 16p11.2
title_sort copy number variation and brain structure: lessons learned from chromosome 16p11.2
topic Research Highlight
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329653/
https://www.ncbi.nlm.nih.gov/pubmed/25688292
http://dx.doi.org/10.1186/s13073-015-0140-8
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