About: Rare NRXN1 promoter variants in patients with schizophrenia

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Copy number variants (CNVs) affecting the neurexin 1 (NRXN1) gene have been found in a subgroup of patients with schizophrenia (SZ). NRXN1 expression is complex, with multiple alternative splice forms generated from two major transcripts; NRXN1α and NRXN1β. The majority of CNVs in SZ are deletions affecting the proximal NRXN1α exons and promoter region. Rare chromosomal events are useful in understanding the genetic basis of complex psychiatric disorders since affected genes become feasible targets to analyze for more subtle genetic alterations. As a first step towards this goal, we resequenced the NRXN1α promoter region in 170 patients with SZ and a similar number of controls. Two rare mutations were identified in the patient population. One previously unknown single nucleotide polymorphism (SNP) was found in controls. Bioinformatics analysis suggests that binding to several transcription factors may be affected by the minor alleles. The findings suggest that in addition to chromo Copy number variants (CNVs) affecting the neurexin 1 (NRXN1) gene have been found in a subgroup of patients with schizophrenia (SZ). NRXN1 expression is complex, with multiple alternative splice forms generated from two major transcripts; NRXN1α and NRXN1β. The majority of CNVs in SZ are deletions affecting the proximal NRXN1α exons and promoter region. Rare chromosomal events are useful in understanding the genetic basis of complex psychiatric disorders since affected genes become feasible targets to analyze for more subtle genetic alterations. As a first step towards this goal, we resequenced the NRXN1α promoter region in 170 patients with SZ and a similar number of controls. Two rare mutations were identified in the patient population. One previously unknown single nucleotide polymorphism (SNP) was found in controls. Bioinformatics analysis suggests that binding to several transcription factors may be affected by the minor alleles. The findings suggest that in addition to chromo (en)
Title	Rare NRXN1 promoter variants in patients with schizophrenia Rare NRXN1 promoter variants in patients with schizophrenia (en)
skos:prefLabel	Rare NRXN1 promoter variants in patients with schizophrenia Rare NRXN1 promoter variants in patients with schizophrenia (en)
skos:notation	RIV/00023752:_____/10:00001077!RIV11-MZ0-00023752
http://linked.open...avai/riv/aktivita	N Z
http://linked.open...avai/riv/aktivity	N, Z(MZ0PCP2005)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Stopková, Pavla
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Národní ústav duševního zdraví
http://linked.open...dnocenehoVysledku	283928
http://linked.open...ai/riv/idVysledku	RIV/00023752:_____/10:00001077
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Neurexin; Schizophrenia; Bipolar disorder; Autism; CNV; Copy variant (en)
http://linked.open.../riv/klicoveSlovo	Schizophrenia Bipolar disorder Autism Copy variant Neurexin CNV
http://linked.open...odStatuVydavatele	IE - Irsko
http://linked.open...ontrolniKodProRIV	[D65D7DBFD997]
http://linked.open...i/riv/nazevZdroje	Neuroscience Letters
http://linked.open...in/vavai/riv/obor	FL
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	475
http://linked.open...iv/tvurceVysledku	Stopková, Pavla Lachman, H. M. Pedrosa, E. Shah, AK Groh, K. Locker, J. Nolan, K. Tioleco, NM Villa, C.
http://linked.open...ain/vavai/riv/wos	000279785000005
http://linked.open...n/vavai/riv/zamer	Study of Sources f Psychiatric Morbidity , and Increasing the Effec-tiveness of the Preventative and Therapeutical methods in mental Health Care in the Czech Republic 2005?2011
issn	0304-3940
number of pages	5 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Rare NRXN1 promoter variants in patients with schizophrenia Rare NRXN1 promoter variants in patients with schizophrenia Rare NRXN1 promoter variants in patients with schizophrenia

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