Evidence map›Paper›PMID 39305678›Full record

ReviewCurrent opinion in neurobiology2024

Polygenicity in a box: Copy number variants, neural circuit development, and neurodevelopmental disorders.

Anthony-Samuel LaMantia

Abstract readReview
In one paragraph

Review in Current opinion in neurobiology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. 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

1 author.

Anthony-Samuel LaMantiaThe Fralin Biomedical Research Institute at Virginia Tech-Carilion School of Medicine, Roanoke, VA 24016, United States; Department of Biological Sciences, Virginia Tech, Blacksburg VA, 24061, United States. Electronic address: anthonysl@vtc.vt.edu.

Funding

Regulation of 22q11 Genes in Embryonic and Adult ForebrainR01HD042182 · NICHD · VIRGINIA POLYTECHNIC INST AND ST UNIV · PI ANTHONY S LAMANTIA · 2003 to 2026
$8.6M
Pathology, Developmental Origins, and Prevention of Pediatric DysphagiaP01HD083157 · NICHD · GEORGE WASHINGTON UNIVERSITY · PI LAMANTIA, ANTHONY S · 2015 to 2019
$6.4M
Targeting Mitochondrial Function to Develop Novel Therapies for Neurodevelopmental DisordersR21MH126294 · NIMH · VIRGINIA POLYTECHNIC INST AND ST UNIV · PI LAMANTIA, ANTHONY S · 2021 to 2022
$440k
NICHD NIH HHS P01 HD083157NICHD NIH HHS R01 HD042182NIMH NIH HHS R21 MH126294
6 · The paper itself

Abstract

Clinically defined neurodevelopmental disorders (cd-NDDs), including Autistic Spectrum Disorder (ASD) and Schizophrenia (Scz), are primarily polygenic: Multiple risk genes distributed across the genome, in potentially infinite combinations, account for variable pathology. Polygenicity raises a fundamental question: Can "core" cd-NDD pathogenic mechanisms be identified given this genomic complexity? With the right models and analytic targets, a distinct class of polygenic mutations-Copy Number Variants (CNVs): contiguous gene deletions or duplications associated with cd-NDD risk-provide a singular opportunity to define cd-NDD pathology. CNVs orthologous to those that confer cd-NDD risk have been engineered in animals as well as human stem cells. Using these tools, one can determine how altered function of multiple genes cause serial stumbles over cell biological steps typically taken to build optimal "polygenic" neural circuits. Thus, cd-NDD pathology may be a consequence of polygenic deviations-stumbles-that exceed limits of adaptive variation for key developmental steps.

Indexed as

DNA Copy Number VariationsMultifactorial InheritanceNeurodevelopmental DisordersAnimalsHumans

Identifiers

PMID39305678
PMCPMC11611645

What Socratic holds

Textmetadata
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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 Socratic graph.