Evidence map›Paper›PMID 23098994›Full record

ReviewNeuropharmacology2013

Converging levels of analysis on a genomic hotspot for psychosis: insights from 22q11.2 deletion syndrome.

Matthew J Schreiner, Maria T Lazaro, Maria Jalbrzikowski, Carrie E Bearden

Abstract readReview
In one paragraph

Review in Neuropharmacology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

18 citing papers in PubMed, 31 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Subthreshold psychotic symptoms in 22q11.2 deletion syndrome.Journal of the American Academy of Child and Adolescent Psychiatry · 2014
    Article
  15. Article
  16. Ohnologs are overrepresented in pathogenic copy number mutations.Proceedings of the National Academy of Sciences of the United States of America · 2014
    Article
  17. Review
  18. Review
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

4 authors at 1 institution in 1 country.

Matthew J SchreinerInterdepartmental Neuroscience Program, University of California, Los Angeles, USA.
Maria T Lazaro
Maria Jalbrzikowski
Carrie E Bearden
University of California, Los Angeles · US

Funding

Understanding Repetitive Behavior in AutismP50HD055784 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BOOKHEIMER, SUSAN Y · 2007 to 2021
$32.0M
Neurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2M
Neurodevelopment and Psychosis in the 22q11.2 Copy Number VariantsR37MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CARRIE E BEARDEN · 2023 to 2026
$2.9M
Training Grant in Neurobehavioral GeneticsT32MH073526 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E, GESCHWIND, DANIEL H · 2006 to 2020
$2.4M
Comprehensive Training in Neuroimaging Fundamentals and ApplicationsT90DA022768 · NIDA · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COHEN, MARK STEVEN · 2006 to 2015
$1.5M
NICHD NIH HHS P50 HD055784NIDA NIH HHS T90 DA022768NIMH NIH HHS R01 MH085953NIMH NIH HHS R37 MH085953NIMH NIH HHS T32 MH073526
6 · The paper itself

Abstract

Schizophrenia is a devastating neurodevelopmental disorder that, despite extensive research, still poses a considerable challenge to attempts to unravel its heterogeneity, and the complex biochemical mechanisms by which it arises. While the majority of cases are of unknown etiology, accumulating evidence suggests that rare genetic mutations, such as 22q11.2 Deletion Syndrome (22qDS), can play a significant role in predisposition to the illness. Up to 25% of individuals with 22qDS eventually develop schizophrenia; conversely, this deletion is estimated to account for 1-2% of schizophrenia cases overall. This locus of Chromosome 22q11.2 contains genes that encode for proteins and enzymes involved in regulating neurotransmission, neuronal development, myelination, microRNA processing, and post-translational protein modifications. As a consequence of the deletion, affected individuals exhibit cognitive dysfunction, structural and functional brain abnormalities, and neurodevelopmental anomalies that parallel many of the phenotypic characteristics of schizophrenia. As an illustration of the value of rare, highly penetrant genetic subtypes for elucidating pathological mechanisms of complex neuropsychiatric disorders, we provide here an overview of the cellular, network, and systems-level anomalies found in 22qDS, and review the intriguing evidence for this disorder's association with schizophrenia. This article is part of the Special Issue entitled 'Neurodevelopmental Disorders'.

Indexed as

BrainDevelopmental DisabilitiesDiGeorge SyndromeDNA Copy Number VariationsGenomeHumansPsychotic DisordersSchizophrenia

Identifiers

PMID23098994
PMCPMC3677073
OpenAlexW2054500945

What OpenQuestion holds

Textmetadata
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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.