Evidence map›Paper›PMID 35571374›Full record

ArticleFrontiers in molecular neuroscience2022

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders.

Xiumin Chen, Katie A Wilson, Natascha Schaefer, Lachlan De Hayr, Mark Windsor, Emmanuel Scalais, Germaine van Rijckevorsel, Katrien Stouffs, Carmen Villmann, Megan L O'Mara and 2 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in molecular neuroscience, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

12 citing papers in PubMed, 16 citations in OpenAlex.

  1. Review
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  8. Startle Disease: New Molecular Insights into an Old Neurological Disorder.The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry · 2023
    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

12 authors at 6 institutions in 3 countries.

Xiumin ChenQueensland Brain Institute, The University of Queensland, Brisbane, QLD, Australia.
Katie A WilsonResearch School of Chemistry, The Australian National University, Canberra, ACT, Australia.
Natascha SchaeferInstitute of Clinical Neurobiology, University Hospital, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Lachlan De HayrSchool of Health and Behavioural Sciences, University of the Sunshine Coast, Maroochydore, QLD, Australia.
Mark WindsorSchool of Health and Behavioural Sciences, University of the Sunshine Coast, Maroochydore, QLD, Australia.
Emmanuel ScalaisNeurologie Pédiatrique, Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg.
Germaine van RijckevorselNeurologie Pédiatrique, Centre Hospitalier de Luxembourg, Luxembourg, Luxembourg.
Katrien StouffsCenter for Medical Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
Carmen VillmannInstitute of Clinical Neurobiology, University Hospital, Julius-Maximilians-University Würzburg, Würzburg, Germany.
Megan L O'MaraResearch School of Chemistry, The Australian National University, Canberra, ACT, Australia.
Joseph W LynchQueensland Brain Institute, The University of Queensland, Brisbane, QLD, Australia.
Robert J HarveySchool of Health and Behavioural Sciences, University of the Sunshine Coast, Maroochydore, QLD, Australia.
Australian National University · AUCentre Hospitalier de Luxembourg · LUSunshine Coast University Hospital · AUUniversity of Queensland · AUUniversitair Ziekenhuis Brussel · BEUniversity of the Sunshine Coast · AU

Funding

ChimeraX -- Next Generation Visualization and Analysis Software for Multiscale ModelingR01GM129325 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FERRIN, THOMAS E · 2018 to 2025
$5.2M
NIGMS NIH HHS R01 GM129325
6 · The paper itself

Abstract

Glycine receptors (GlyRs) containing the α2 subunit govern cell fate, neuronal migration and synaptogenesis in the developing cortex and spinal cord. Rare missense variants and microdeletions in the X-linked GlyR α2 subunit gene (

Indexed as

autism spectrum disorderdevelopmental disordersepilepsyGLRA2glycine receptor (GlyR)GlyR α2 subunit

Identifiers

PMID35571374
PMCPMC9103196
OpenAlexW4225080749

What OpenQuestion holds

Textmetadata
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.