Evidence map›Paper›PMID 32398033›Full record

ReviewMolecular autism2020

Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells.

P Joel Ross, Rebecca S F Mok, Brandon S Smith, Deivid C Rodrigues, Marat Mufteev, Stephen W Scherer, James Ellis

Open access · goldAbstract readReview
In one paragraph

Review in Molecular autism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
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  6. 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

7 authors at 3 institutions in 1 country.

P Joel RossDepartment of Biology, University of Prince Edward Island, Charlottetown, PE, Canada. pjross@upei.ca.
Rebecca S F MokDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Brandon S SmithDepartment of Biology, University of Prince Edward Island, Charlottetown, PE, Canada.
Deivid C RodriguesDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Marat MufteevDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Stephen W SchererDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
James EllisDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Hospital for Sick Children · CAUniversity of Prince Edward Island · CAUniversity of Toronto · CA

Funding

CIHR PJT-148746
6 · The paper itself

Abstract

Genetic factors contribute to the development of autism spectrum disorder (ASD), and although non-protein-coding regions of the genome are being increasingly implicated in ASD, the functional consequences of these variants remain largely uncharacterized. Induced pluripotent stem cells (iPSCs) enable the production of personalized neurons that are genetically matched to people with ASD and can therefore be used to directly test the effects of genomic variation on neuronal gene expression, synapse function, and connectivity. The combined use of human pluripotent stem cells with genome editing to introduce or correct specific variants has proved to be a powerful approach for exploring the functional consequences of ASD-associated variants in protein-coding genes and, more recently, long non-coding RNAs (lncRNAs). Here, we review recent studies that implicate lncRNAs, other non-coding mutations, and regulatory variants in ASD susceptibility. We also discuss experimental design considerations for using iPSCs and genome editing to study the role of the non-protein-coding genome in ASD.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseModels, BiologicalAllelesAnimalsAutism Spectrum DisorderBiomarkersCell DifferentiationDisease Models, AnimalGene Expression RegulationGenetic VariationHumansInduced Pluripotent Stem CellsNeuronsPhenotypeRNA, UntranslatedBiomarkersRNA, Untranslated

Identifiers

PMID32398033
PMCPMC7218542
OpenAlexW3027852753

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.