Evidence map›Paper›PMID 36672163›Full record

ArticleCells2023

Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype.

Gábor Zsurka, Maximilian L T Appel, Maximilian Nastaly, Kerstin Hallmann, Niels Hansen, Daniel Nass, Tobias Baumgartner, Rainer Surges, Gunther Hartmann, Eva Bartok and 1 more

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

Article in Cells, 2023. 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
1.2field-weighted citation impact, top 21% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024
    Review
  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

11 authors at 2 institutions in 2 countries.

Gábor ZsurkaInstitute of Experimental Epileptology and Cognition Research, Medical Faculty, University of Bonn, 53127 Bonn, Germany.ORCID 0000-0002-6379-849X
Maximilian L T AppelInstitute of Clinical Chemistry and Clinical Pharmacology, Medical Faculty, University of Bonn, 53127 Bonn, Germany.ORCID 0000-0002-0324-2545
Maximilian NastalyInstitute of Clinical Chemistry and Clinical Pharmacology, Medical Faculty, University of Bonn, 53127 Bonn, Germany.
Kerstin HallmannInstitute of Experimental Epileptology and Cognition Research, Medical Faculty, University of Bonn, 53127 Bonn, Germany.
Niels HansenDepartment of Epileptology, University Hospital Bonn, 53127 Bonn, Germany.
Daniel NassDepartment of Epileptology, University Hospital Bonn, 53127 Bonn, Germany.
Tobias BaumgartnerDepartment of Epileptology, University Hospital Bonn, 53127 Bonn, Germany.
Rainer SurgesDepartment of Epileptology, University Hospital Bonn, 53127 Bonn, Germany.ORCID 0000-0002-3177-8582
Gunther HartmannInstitute of Clinical Chemistry and Clinical Pharmacology, Medical Faculty, University of Bonn, 53127 Bonn, Germany.
Eva BartokInstitute of Experimental Haematology and Transfusion Medicine, Medical Faculty, University of Bonn, 53127 Bonn, Germany.ORCID 0000-0003-0556-1950
Wolfram S KunzInstitute of Experimental Epileptology and Cognition Research, Medical Faculty, University of Bonn, 53127 Bonn, Germany.ORCID 0000-0003-1113-3493
University of Bonn · DEUniversity Hospital Bonn · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Epilepsy and mental retardation are known to be associated with pathogenic mutations in a broad range of genes that are expressed in the brain and have a role in neurodevelopment. Here, we report on a family with three affected individuals whose clinical symptoms closely resemble a neurodevelopmental disorder. Whole-exome sequencing identified a homozygous stop-gain mutation, p.Gln19*, in the

Indexed as

Intellectual DisabilityTranscription FactorsBasic-Leucine Zipper Transcription FactorsHumansImmunityLeukocytes, MononuclearPhenotypeBasic-Leucine Zipper Transcription FactorsTranscription Factorsepilepsymental retardationneuroinflammationtranscription factortype I interferonopathy

Identifiers

PMID36672163
PMCPMC9856319
OpenAlexW4313571848

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.