Evidence map›Paper›PMID 35730699›Full record

ArticleThe Biochemical journal2022

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes.

Emily L Button, Joseph J Rossi, Daniel P McDougal, John B Bruning, Daniel J Peet, David C Bersten, Jill A Rosenfeld, Murray L Whitelaw

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Biochemical journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.9field-weighted citation impact, top 23% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. Fast detection of unique genomic regions.Computational and structural biotechnology journal · 2025
    Review
  4. 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

8 authors at 2 institutions in 2 countries.

Emily L ButtonDepartment of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.ORCID 0000-0001-7962-7698
Joseph J RossiDepartment of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
Daniel P McDougalDepartment of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
John B BruningDepartment of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.ORCID 0000-0002-6919-1824
Daniel J PeetDepartment of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
David C BerstenDepartment of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, U.S.A.
Murray L WhitelawDepartment of Molecular and Biomedical Science, University of Adelaide, Adelaide, Australia.
The University of Adelaide · AUWyle (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Single-minded 2 (SIM2) is a neuron-enriched basic Helix-Loop-Helix/PER-ARNT-SIM (bHLH/PAS) transcription factor essential for mammalian survival. SIM2 is located within the Down syndrome critical region (DSCR) of chromosome 21, and manipulation in mouse models suggests Sim2 may play a role in brain development and function. During the screening of a clinical exome sequencing database, nine SIM2 non-synonymous mutations were found which were subsequently investigated for impaired function using cell-based reporter gene assays. Many of these human variants attenuated abilities to activate transcription and were further characterized to determine the mechanisms underpinning their deficiencies. These included impaired partner protein dimerization, reduced DNA binding, and reduced expression and nuclear localization. This study highlighted several SIM2 variants found in patients with disabilities and validated a candidate set as potentially contributing to pathology.

Indexed as

Basic Helix-Loop-Helix ProteinsDown SyndromeAnimalsAryl Hydrocarbon Receptor Nuclear TranslocatorCell NucleusHumansMammalsMicePhenotypeReceptors, Aryl HydrocarbonTranscription FactorsAryl Hydrocarbon Receptor Nuclear TranslocatorBasic Helix-Loop-Helix ProteinsReceptors, Aryl HydrocarbonSIM2 protein, humanTranscription Factorsaryl hydrocarbon nuclear receptor translocatormutationsingle-minded 2single-nucleotide polymorphismstranscription factors

Identifiers

PMID35730699
PMCPMC9342896
OpenAlexW4283318572

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.