Evidence map›Paper›PMID 39738582›Full record

ReviewMammalian genome : official journal of the International Mammalian Genome Society2025

Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.

Arkadiusz Zbikowski, Tomasz Kowalczyk, Petr Kasparek, Jan Prohazka, Radislav Sedlacek, Michał Ciborowski, Dominik Cysewski, Kacper Łukasiewicz

Abstract readReview
PubMed Publisher
In one paragraph

Review in Mammalian genome : official journal of the International Mammalian Genome Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

8 authors.

Arkadiusz ZbikowskiClinical Research Centre, Medical University of Bialystok, Bialystok, Poland.
Tomasz KowalczykClinical Research Centre, Medical University of Bialystok, Bialystok, Poland.
Petr KasparekCzech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Vestec, Czech Republic.
Jan ProhazkaCzech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Vestec, Czech Republic.
Radislav SedlacekCzech Centre for Phenogenomics, Institute of Molecular Genetics of the Czech Academy of Sciences, Vestec, Czech Republic.
Michał CiborowskiClinical Research Centre, Medical University of Bialystok, Bialystok, Poland.
Dominik CysewskiClinical Research Centre, Medical University of Bialystok, Bialystok, Poland. dominik.cysewski@umb.edu.pl.
Kacper ŁukasiewiczExperimental Medicine Centre, Medical University of Bialystok, Bialystok, Poland. kacper.lukasiewicz@umb.edu.pl.

Funding

International Visegrad Fund Visegrad Fellowship #62410114Uniwersytet Medyczny w Bialymstoku B.SUB.24.525
6 · The paper itself

Abstract

Phosphofurin acidic cluster sorting protein 2 (PACS2) plays a vital role in maintaining cellular homeostasis by regulating protein trafficking between cellular membranes. This function impacts crucial processes like apoptosis, mitochondria-endoplasmic reticulum interaction, and subsequently Ca

Indexed as

Mutation, MissenseVesicular Transport ProteinsAnimalsHumansInduced Pluripotent Stem CellsMutationPACS2 protein, humanVesicular Transport ProteinsDEE66Developmental epileptic encephalopathy-66Mouse modelPACS2 syndromeUltrarare

Identifiers

PMID39738582

What OpenQuestion holds

Textmetadata
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.