Evidence map›Paper›PMID 38280856›Full record

ReviewTranslational psychiatry2024

Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.

Rebekah de Nys, Clare L van Eyk, Tarin Ritchie, Rikke S Møller, Ingrid E Scheffer, Carla Marini, Rudrarup Bhattacharjee, Raman Kumar, Jozef Gecz

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

Review in Translational psychiatry, 2024. 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 28% 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, 4 citations in OpenAlex.

  1. Article
  2. Review
  3. 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

9 authors at 4 institutions in 2 countries.

Rebekah de NysAdelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.
Clare L van EykAdelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0003-0345-9944
Tarin RitchieAdelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0003-2951-6820
Rikke S MøllerDepartment of Epilepsy Genetics and Personalized Medicine (member of ERN EpiCARE), Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark.ORCID 0000-0002-9664-1448
Ingrid E SchefferEpilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.
Carla MariniChild Neurology and Psychiatry Unit Children's Hospital "G. Salesi" Azienda Ospedaliero-Universitaria delle Marche Ancona, Ancona, Italy.
Rudrarup BhattacharjeeAdelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0003-2740-6986
Raman KumarAdelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0001-7976-8386
Jozef GeczAdelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia. jozef.gecz@adelaide.edu.au.ORCID 0000-0002-7884-6861
The University of Adelaide · AURoyal Children's Hospital · AUSouth Australian Health and Medical Research Institute · AUUniversity of Southern Denmark · DK

Funding

Department of Health | National Health and Medical Research Council (NHMRC) 44131150
6 · The paper itself

Abstract

Clustering Epilepsy (CE) is an epileptic disorder with neurological comorbidities caused by heterozygous variants of the X chromosome gene Protocadherin 19 (PCDH19). Recent studies have implicated dysregulation of the Nuclear Hormone Receptor (NHR) pathway in CE pathogenesis. To obtain a comprehensive overview of the impact and mechanisms of loss of PCDH19 function in CE pathogenesis, we have performed epigenomic, transcriptomic and proteomic analysis of CE relevant models. Our studies identified differential regulation and expression of Androgen Receptor (AR) and its targets in CE patient skin fibroblasts. Furthermore, our cell culture assays revealed the repression of PCDH19 expression mediated through ERα and the co-regulator FOXA1. We also identified a protein-protein interaction between PCDH19 and AR, expanding upon the intrinsic link between PCDH19 and the NHR pathway. Together, these results point to a novel mechanism of NHR signaling in the pathogenesis of CE that can be explored for potential therapeutic options.

Indexed as

CadherinsEpilepsyCluster AnalysisHumansMultiomicsProteomicsProtocadherinsCadherinsPCDH19 protein, humanProtocadherins

Identifiers

PMID38280856
PMCPMC10821879
OpenAlexW4391277622

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.