Evidence map›Paper›PMID 38331934›Full record

ArticleNature communications2024

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.

Rudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, Ing Chee Wee, Sushma R Rao, Alison E Gardner, Tarin Ritchie, Eline J H van Hugte, Ummi Ciptasari, Sandra Piltz and 14 more

Abstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Mechanisms underlining R-loop biology and implications for human disease.Frontiers in cell and developmental biology · 2025
    Review
  8. 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

24 authors.

Rudrarup BhattacharjeeAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0003-2740-6986
Lachlan A JollyRobinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.
Mark A CorbettAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0001-9298-3072
Ing Chee WeeDiscipline of Anatomy and Pathology, School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0002-1181-7791
Sushma R RaoAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.
Alison E GardnerAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.
Tarin RitchieAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0003-2951-6820
Eline J H van HugteDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, 6500, HB, the Netherlands.
Ummi CiptasariDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, 6500, HB, the Netherlands.ORCID 0000-0003-4577-3069
Sandra PiltzRobinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0003-3386-8140
Jacqueline E NollSchool of Biomedicine, Faculty of Health and Medical Sciences, University of Adelaide and Precision Cancer Medicine Theme, Solid Tumour Program, South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia.ORCID 0000-0001-7375-635X
Nazzmer NazriAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0002-9598-3585
Clare L van EykAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0003-0345-9944
Melissa WhiteRobinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.
Dani FornarinoAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.
Cathryn PoultonUndiagnosed Diseases Program, Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, 6008, Australia.
Gareth BaynamUndiagnosed Diseases Program, Genetic Services of WA, King Edward Memorial Hospital, Subiaco, WA, 6008, Australia.ORCID 0000-0003-4920-9553
Lyndsey E Collins-PrainoDiscipline of Anatomy and Pathology, School of Biomedicine, The University of Adelaide, Adelaide, SA, 5005, Australia.
Marten F SnelAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.
Nael Nadif KasriDepartment of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, 6500, HB, the Netherlands.
Kim M HemsleyAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.
Paul Q ThomasRobinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, Australia.
Raman KumarAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.ORCID 0000-0001-7976-8386
Jozef GeczAdelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia. jozef.gecz@adelaide.edu.au.ORCID 0000-0002-7884-6861

Funding

Department of Health | National Health and Medical Research Council (NHMRC) APP1155224Department of Health | National Health and Medical Research Council (NHMRC) APP1163240
6 · The paper itself

Abstract

We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the highly-conserved TREX (Transcription-Export) complex, in a clinically complex neurodevelopmental disorder with intellectual disability as the core phenotype. To study the molecular pathology of this essential eukaryotic gene, we generated a mouse model based on a hypomorphic Thoc2 exon 37-38 deletion variant of a patient with ID, speech delay, hypotonia, and microcephaly. The Thoc2 exon 37-38 deletion male (Thoc2

Indexed as

Intellectual DisabilityTranscription FactorsActive Transport, Cell NucleusAnimalsDNA DamageHumansMaleMicePhenotypeR-Loop StructuresRNA, MessengerRNA, MessengerTranscription Factors

Identifiers

PMID38331934
PMCPMC10853216

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.