Evidence map›Paper›PMID 20602773›Full record

ArticleBMC medical genetics2010

Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.

Richard Delorme, Catalina Betancur, Isabelle Scheid, Henrik Anckarsäter, Pauline Chaste, Stéphane Jamain, Franck Schuroff, Gudrun Nygren, Evelyn Herbrecht, Anne Dumaine and 5 more

Open access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
0.6field-weighted citation impact, top 30% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 37 citations in OpenAlex.

  1. Genomic dissection of sleep archetypes in a large autism cohort.medRxiv : the preprint server for health sciences · 2025
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  11. Mechanisms of NOS1AP action on NMDA receptor-nNOS signaling.Frontiers in cellular neuroscience · 2014
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 7 institutions in 3 countries.

Richard DelormeHuman Genetics and Cognitive Functions, Institut Pasteur, Paris, France. richard.delorme@rdb.aphp.fr
Catalina Betancur
Isabelle Scheid
Henrik Anckarsäter
Pauline Chaste
Stéphane Jamain
Franck Schuroff
Gudrun Nygren
Evelyn Herbrecht
Anne Dumaine
Marie Christine Mouren
Maria Råstam
Marion Leboyer
Christopher Gillberg
Thomas Bourgeron
University of Gothenburg · SEInstitut Mondor de Recherche Biomédicale · FRInstitut Pasteur · FRHôpital Albert-Chenevier · FRHôpital Robert-Debré · FRSorbonne Université · FRUniversité Paris Cité · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe gene encoding carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase (NOS1AP) is located on chromosome 1q23.3, a candidate region for schizophrenia, autism spectrum disorders (ASD) and obsessive-compulsive disorder (OCD). Previous genetic and functional studies explored the role of NOS1AP in these psychiatric conditions, but only a limited number explored the sequence variability of NOS1AP.

methodsWe analyzed the coding sequence of NOS1AP in a large population (n = 280), including patients with schizophrenia (n = 72), ASD (n = 81) or OCD (n = 34), and in healthy volunteers controlled for the absence of personal or familial history of psychiatric disorders (n = 93).

resultsTwo non-synonymous variations, V37I and D423N were identified in two families, one with two siblings with OCD and the other with two brothers with ASD. These rare variations apparently segregate with the presence of psychiatric conditions.

conclusionsCoding variations of NOS1AP are relatively rare in patients and controls. Nevertheless, we report the first non-synonymous variations within the human NOS1AP gene that warrant further genetic and functional investigations to ascertain their roles in the susceptibility to psychiatric disorders.

Indexed as

Adaptor Proteins, Signal TransducingAdultAgedAllelesAmino Acid SequenceAmino Acid SubstitutionChildChild Development Disorders, PervasiveFemaleGene FrequencyGenotypeHumansMaleMiddle AgedMolecular Sequence DataMutationAdaptor Proteins, Signal TransducingNOS1AP protein, humanProtein Isoforms

Identifiers

PMID20602773
PMCPMC2919462
OpenAlexW2002918968

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.