Evidence map›Paper›PMID 32640929›Full record

ArticleAnnual review of neuroscience2020

The Genetic Control of Stoichiometry Underlying Autism.

Robert B Darnell

Abstract read
In one paragraph

Article in Annual review of neuroscience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Signature of Glycylglutamic Acid Structure.International journal of biochemistry and biophysics · 2021
    Article
  6. Article
  7. An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes.Proceedings of the National Academy of Sciences of the United States of America · 2021
    Article
  8. Review
  9. 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.

Robert B DarnellLaboratory of Molecular Neuro-Oncology, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA; email: darnelr@rockefeller.edu.

Funding

New York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2UM1HG008901 · NHGRI · NEW YORK GENOME CENTER · PI MANIATIS, THOMAS P, WIGLER, MICHAEL H · 2016 to 2020
$56.6M
Transforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8M
Combining New Molecular and Informatic Strategies to Find Hidden Ways to Treat Brain DiseaseR35NS097404 · NINDS · ROCKEFELLER UNIVERSITY · PI DARNELL, ROBERT B · 2017 to 2024
$9.0M
NEUROLOGY AND THE MOLECULAR ROLE OF N-RBPS IN THE BRAINR01NS034389 · NINDS · ROCKEFELLER UNIVERSITY · PI DARNELL, ROBERT B · 1995 to 2016
$6.3M
Mapping the mechanisms of protein synthesis-dependent synaptic plasticityR01NS081706 · NINDS · ROCKEFELLER UNIVERSITY · PI DARNELL, ROBERT B · 2012 to 2016
$5.3M
Neurology and the molecular role of N-RBPs in the brainR56NS034389 · NINDS · ROCKEFELLER UNIVERSITY · PI DARNELL, ROBERT B · 2012 to 2012
$590k
NCATS NIH HHS UL1 TR000043NHGRI NIH HHS UM1 HG008901NINDS NIH HHS R01 NS034389NINDS NIH HHS R01 NS081706NINDS NIH HHS R35 NS097404NINDS NIH HHS R56 NS034389
6 · The paper itself

Abstract

Autism is a common and complex neurologic disorder whose scientific underpinnings have begun to be established in the past decade. The essence of this breakthrough has been a focus on families, where genetic analyses are strongest, versus large-scale, case-control studies. Autism genetics has progressed in parallel with technology, from analyses of copy number variation to whole-exome sequencing (WES) and whole-genome sequencing (WGS). Gene mutations causing complete loss of function account for perhaps one-third of cases, largely detected through WES. This limitation has increased interest in understanding the regulatory variants of genes that contribute in more subtle ways to the disorder. Strategies combining biochemical analysis of gene regulation, WGS analysis of the noncoding genome, and machine learning have begun to succeed. The emerging picture is that careful control of the amounts of transcription, mRNA, and proteins made by key brain genes-stoichiometry-plays a critical role in defining the clinical features of autism.

Indexed as

Autism Spectrum DisorderAutistic DisorderDNA Copy Number VariationsExomeExome SequencingHumansMutationFMRPRNAstoichiometrysynaptic plasticitytranslation

Identifiers

PMID32640929
PMCPMC7593886

What OpenQuestion holds

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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.