Evidence map›Paper›PMID 33756113›Full record

ReviewCurrent opinion in genetics & development2021

Copy number variants in neurexin genes: phenotypes and mechanisms.

Marc V Fuccillo, ChangHui Pak

Open access · hybridAbstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
3.1field-weighted citation impact, top 8% 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

20 citing papers in PubMed, 26 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Distinct Synaptic Mechanisms DrivebioRxiv : the preprint server for biology · 2025
    Article
  6. Alpha-neurexins in health and disease.Frontiers in molecular neuroscience · 2025
    Review
  7. Review
  8. Article
  9. International journal of molecular sciences · 2024
    Article
  10. Essential Role of Latrophilin-1 Adhesion GPCR Nanoclusters in Inhibitory Synapses.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024
    Article
  11. Article
  12. Open medicine (Warsaw, Poland) · 2024
    Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
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

2 authors at 2 institutions in 1 country.

Marc V FuccilloDept. of Neuroscience, University of Pennsylvania, Philadelphia, PA 19104, United States. Electronic address: fuccillo@pennmedicine.upenn.edu.
ChangHui PakDept. of Biochemistry & Molecular Biology, University of Massachusetts Amherst, Amherst, MA 01003, United States. Electronic address: cpak@umass.edu.
University of Massachusetts Amherst · USUniversity of Pennsylvania · US

Funding

Molecular and Circuit Mechanisms of Neurexin1-Mediated Goal-Directed DysfunctionR01MH115030 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI FUCCILLO, MARC V · 2018 to 2022
$2.3M
Molecular dissection of synaptic dysfunction in mental disordersR01MH122519 · NIMH · UNIVERSITY OF MASSACHUSETTS AMHERST · PI PAK, CHANGHUI · 2020 to 2024
$2.3M
Linking Synaptic and Cognitive Deficits in a Model of Neuropsychiatric DiseaseR00MH099243 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI FUCCILLO, MARC V · 2015 to 2017
$711k
NIMH NIH HHS R00 MH099243NIMH NIH HHS R01 MH115030NIMH NIH HHS R01 MH122519
6 · The paper itself

Abstract

Neurexins are central to trans-synaptic cell adhesion and signaling during synapse specification and maintenance. The past two decades of human genetics research have identified structural variations in the neurexin gene family, in particular NRXN1 copy number variants (CNVs), implicated in multiple neuropsychiatric and developmental disorders. The heterogeneity and reduced penetrance of NRXN1 deletions, in addition to the pleiotropic, circuit-specific functions of NRXN1, present substantial obstacles to understanding how compromised NRXN1 function predisposes individuals to neuropsychiatric disorders. Here, we provide an updated review of NRXN1 genetics in disease, followed by recently published work using both human induced pluripotent stem cell (iPSC) derived systems and animal models to understand the mechanisms of disease pathophysiology. Finally, we suggest our outlook on how the field should progress to improve our understanding of neurexin mediated disease pathogenesis. We believe that understanding how structural genetic variants in NRXN1 contribute to disease pathophysiology requires parallel approaches in iPSC and mouse model systems, each leveraging their unique strengths - analysis of genetic interactions and background effects in iPSCs and neural circuit and behavioral analysis in mice.

Indexed as

DNA Copy Number VariationsModels, BiologicalAnimalsCalcium-Binding ProteinsGenotypeHumansMental DisordersMiceMutationNeural Cell Adhesion MoleculesPhenotypeCalcium-Binding ProteinsNeural Cell Adhesion MoleculesNRXN1 protein, human

Identifiers

PMID33756113
PMCPMC8491281
OpenAlexW3136862668

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.