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Copy number variati...
Copy number variations in DISC1 and DISC1-interacting partners in major mental illness
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Johnstone, Mandy (author)
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Maclean, Alan (author)
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Heyrman, Lien (author)
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Lenaerts, An-Sofie (author)
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- Nordin, Annelie (author)
- Umeå universitet,Psykiatri
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Nilsson, Lars-Göran (author)
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De Rijk, Peter (author)
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Goossens, Dirk (author)
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- Adolfsson, Rolf (author)
- Umeå universitet,Psykiatri
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St Clair, David M (author)
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Hall, Jeremy (author)
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Lawrie, Stephen M (author)
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McIntosh, Andrew M (author)
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Del-Favero, Jurgen (author)
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Blackwood, Douglas H R (author)
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Pickard, Benjamin S (author)
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(creator_code:org_t)
- 2015-10-07
- 2015
- English.
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In: Molecular neuropsychiatry. - : S. Karger AG. - 2296-9209. ; 1:3, s. 175-190
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Subject headings
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- Robust statistical, genetic and functional evidence supports a role for DISC1 in the aetiology of major mental illness. Furthermore, many of its protein-binding partners show evidence for involvement in the pathophysiology of a range of neurodevelopmental and psychiatric disorders. Copy number variants (CNVs) are suspected to play an important causal role in these disorders. In this study, CNV analysis of DISC1 and its binding partners PAFAH1B1, NDE1, NDEL1, FEZ1, MAP1A, CIT and PDE4B in Scottish and Northern Swedish population-based samples was carried out using multiplex amplicon quantification. Here, we report the finding of rare CNVs in DISC1, NDE1 (together with adjacent genes within the 16p13.11 duplication), NDEL1 (including the overlapping MYH10 gene) and CIT. Our findings provide further evidence for involvement of DISC1 and its interaction partners in neuropsychiatric disorders and also for a role of structural variants in the aetiology of these devastating diseases.
Keyword
- Affective disorder
- Copy number variants
- DISC1
- Intellectual disability
- NDE1
- NDEL1
- Schizophrenia
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Johnstone, Mandy
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Maclean, Alan
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Heyrman, Lien
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Lenaerts, An-Sof ...
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Nordin, Annelie
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Nilsson, Lars-Gö ...
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show more...
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De Rijk, Peter
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Goossens, Dirk
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Adolfsson, Rolf
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St Clair, David ...
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Hall, Jeremy
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Lawrie, Stephen ...
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McIntosh, Andrew ...
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Del-Favero, Jurg ...
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Blackwood, Dougl ...
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Pickard, Benjami ...
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- Articles in the publication
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Molecular neurop ...
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Complex Psychiat ...
- By the university
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Umeå University