Evidence map›Paper›PMID 39666384›Full record

ArticleThe Journal of clinical investigation2024

A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation.

Kristine Bousset, Stefano Donega, Najim Ameziane, Tabea Fleischhammer, Dhanya Ramachandran, Miriam Poley-Gil, Detlev Schindler, Ingrid M van de Laar, Franco Pagani, Thilo Dörk

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of clinical investigation, 2024. 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. 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

10 authors.

Kristine BoussetGynecology Research Unit, Hannover Medical School, Hannover, Germany.
Stefano DonegaInternational Centre for Genetic Engineering and Biotechnology, Trieste, Italy, and Intramural Research Program of National Institute on Aging, NIH, Baltimore, Maryland, USA.
Najim AmezianeUMC Cancer Center, Amsterdam, Netherlands.
Tabea FleischhammerGynecology Research Unit, Hannover Medical School, Hannover, Germany.
Dhanya RamachandranGynecology Research Unit, Hannover Medical School, Hannover, Germany.
Miriam Poley-GilGynecology Research Unit, Hannover Medical School, Hannover, Germany.
Detlev SchindlerInstitute of Human Genetics, University of Würzburg, Würzburg, Germany.
Ingrid M van de LaarDepartment of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, Netherlands.
Franco PaganiInternational Centre for Genetic Engineering and Biotechnology, Trieste, Italy, and Intramural Research Program of National Institute on Aging, NIH, Baltimore, Maryland, USA.
Thilo DörkGynecology Research Unit, Hannover Medical School, Hannover, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study identifies and characterizes a novel type of splicing mutation in RAD50 deficiency, a rare genetic disorder.

Indexed as

ExonsIntronsMutationAcid Anhydride HydrolasesDNA-Binding ProteinsDNA Repair EnzymesFemaleHumansMaleRNA SplicingAcid Anhydride HydrolasesDNA-Binding ProteinsDNA Repair EnzymesRAD50 protein, humanCell biologyDNA repairGenetic diseasesGeneticsRNA processing

Identifiers

PMID39666384
PMCPMC11785915

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Registered trials

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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.