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Copy number variati...
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Johnstone, Mandy
(author)
Copy number variations in DISC1 and DISC1-interacting partners in major mental illness
- Article/chapterEnglish2015
Publisher, publication year, extent ...
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2015-10-07
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S. Karger AG,2015
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-135220
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-135220URI
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https://doi.org/10.1159/000438788DOI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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.
Subject headings and genre
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Affective disorder
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Copy number variants
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DISC1
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Intellectual disability
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NDE1
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NDEL1
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Schizophrenia
Added entries (persons, corporate bodies, meetings, titles ...)
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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, AnnelieUmeå universitet,Psykiatri(Swepub:umu)anenon01
(author)
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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, RolfUmeå universitet,Psykiatri(Swepub:umu)road0001
(author)
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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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Umeå universitetPsykiatri
(creator_code:org_t)
Related titles
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In:Molecular neuropsychiatry: S. Karger AG1:3, s. 175-1902296-9209
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In:Complex Psychiatry: S. Karger AG1:3, s. 175-1902673-30052673-298X
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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 ...
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Umeå University