Copy number variations in DISC1 and DISC1-interacting partners in major mental illness

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Fältnamn	Indikatorer	Metadata
000		02984naa a2200553 4500
001		oai:DiVA.org:umu-135220
003		SwePub
008		170522s2015 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1352202 URI
024	7	a https://doi.org/10.1159/0004387882 DOI
040		a (SwePub)umu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Johnstone, Mandy4 aut
245	1 0	a Copy number variations in DISC1 and DISC1-interacting partners in major mental illness
264		c 2015-10-07
264	1	b S. Karger AG,c 2015
338		a print2 rdacarrier
520		a 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.
653		a Affective disorder
653		a Copy number variants
653		a DISC1
653		a Intellectual disability
653		a NDE1
653		a NDEL1
653		a Schizophrenia
700	1	a Maclean, Alan4 aut
700	1	a Heyrman, Lien4 aut
700	1	a Lenaerts, An-Sofie4 aut
700	1	a Nordin, Annelieu Umeå universitet,Psykiatri4 aut0 (Swepub:umu)anenon01
700	1	a Nilsson, Lars-Göran4 aut
700	1	a De Rijk, Peter4 aut
700	1	a Goossens, Dirk4 aut
700	1	a Adolfsson, Rolfu Umeå universitet,Psykiatri4 aut0 (Swepub:umu)road0001
700	1	a St Clair, David M4 aut
700	1	a Hall, Jeremy4 aut
700	1	a Lawrie, Stephen M4 aut
700	1	a McIntosh, Andrew M4 aut
700	1	a Del-Favero, Jurgen4 aut
700	1	a Blackwood, Douglas H R4 aut
700	1	a Pickard, Benjamin S4 aut
710	2	a Umeå universitetb Psykiatri4 org
773	0	t Molecular neuropsychiatryd : S. Karger AGg 1:3, s. 175-190q 1:3<175-190x 2296-9209
773	0	t Complex Psychiatryd : S. Karger AGg 1:3, s. 175-190q 1:3<175-190x 2673-3005x 2673-298X
856	4	u https://doi.org/10.1159/000438788
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-135220
856	4 8	u https://doi.org/10.1159/000438788

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Av författaren/redakt...: Johnstone, Mandy; Maclean, Alan; Heyrman, Lien; Lenaerts, An-Sof ...; Nordin, Annelie; Nilsson, Lars-Gö ...; visa fler...; De Rijk, Peter; Goossens, Dirk; Adolfsson, Rolf; St Clair, David ...; Hall, Jeremy; Lawrie, Stephen ...; McIntosh, Andrew ...; Del-Favero, Jurg ...; Blackwood, Dougl ...; Pickard, Benjami ...; visa färre...

Artiklar i publikationen: Molecular neurop ...; Complex Psychiat ...

Av lärosätet: Umeå universitet

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