Evidence map›Paper›PMID 40674274›Full record

ArticleThe FEBS journal2025

In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses.

Tomáš Zárybnický, Sonja Lindfors, Saana Metso, Julia Koivula, Zoltan Szabo, Rasmus Valtonen, Mikko Tulppo, Johanna Magga, Samu Saarimäki, Sonja Bläuer and 13 more

Abstract read
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In one paragraph

Article in The FEBS journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

23 authors.

Tomáš ZárybnickýHelsinki Institute of Life Science, University of Helsinki, Finland.ORCID https://orcid.org/0000-0001-6402-9708
Sonja LindforsHelsinki Institute of Life Science, University of Helsinki, Finland.
Saana MetsoHelsinki Institute of Life Science, University of Helsinki, Finland.
Julia KoivulaHelsinki Institute of Life Science, University of Helsinki, Finland.
Zoltan SzaboResearch Unit of Biomedicine and Internal Medicine, Department of Pharmacology and Toxicology, University of Oulu, Finland.
Rasmus ValtonenResearch Unit of Biomedicine and Internal Medicine, Department of Pharmacology and Toxicology, University of Oulu, Finland.
Mikko TulppoResearch Unit of Biomedicine and Internal Medicine, Department of Pharmacology and Toxicology, University of Oulu, Finland.
Johanna MaggaResearch Unit of Biomedicine and Internal Medicine, Department of Pharmacology and Toxicology, University of Oulu, Finland.ORCID https://orcid.org/0000-0003-4688-9098
Samu SaarimäkiResearch Unit of Biomedicine and Internal Medicine, Department of Pharmacology and Toxicology, University of Oulu, Finland.
Sonja BläuerResearch Unit of Biomedicine and Internal Medicine, Department of Pharmacology and Toxicology, University of Oulu, Finland.
Ilkka MiinalainenBiocenter Oulu, University of Oulu, Finland.
Risto KerkeläResearch Unit of Biomedicine and Internal Medicine, Department of Pharmacology and Toxicology, University of Oulu, Finland.
Petteri T PiepponenDivision of Pharmacology & Pharmacotherapy, Faculty of Pharmacy, University of Helsinki, Finland.
Vootele VoikarLaboratory Animal Centre, Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Finland.
Juho VäänänenBiomedicum Functional Genomics Unit, Helsinki Institute of Life Science and Applied Tumors Genomics Research Program, Faculty of Medicine, University of Helsinki, Finland.
Riikka KiveläStem Cells and Metabolism Research Program Unit, Faculty of Medicine, University of Helsinki, Finland.
Bhagwan YadavInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland.
Hanna LindgrenInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland.
Pirkko MattilaInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Finland.
Fu-Ping ZhangHelsinki Institute of Life Science, University of Helsinki, Finland.
Petra SipiläInstitute of Biomedicine, Research Centre for Integrative Physiology and Pharmacology, Turku Center for Disease Modeling, University of Turku, Finland.
Reetta HinttalaBiocenter Oulu, University of Oulu, Finland.
Satu KuureHelsinki Institute of Life Science, University of Helsinki, Finland.ORCID https://orcid.org/0000-0002-9076-0622

Funding

Helsinki Institute of Life Science, Helsingin YliopistoJane ja Aatos Erkon SäätiöResearch Council of Finland 348906
6 · The paper itself

Abstract

The mRNA export factor GLE1 protein plays critical yet enigmatic functions in RNA processing and has been linked with multiple developmental disorders, including lethal congenital contracture syndrome 1 (LCCS1). Using in vivo genetic engineering to study disturbed GLE1 functions under physiological conditions, we demonstrate that total inactivation of GLE1 results in disorganization of the blastocyst inner cell mass and early embryonic lethality due to defects in lineage specification. In contrast, the knock-in mice genocopying the LCCS1-associated GLE1

Indexed as

Peptide Termination FactorsStress, PhysiologicalAnimalsDisease Models, AnimalFemaleGene Knock-In TechniquesHumansMiceMotor NeuronsNeural CrestPeptide Termination Factorsembryonic developmentLCCS1neural creststress responsesympathetic neurons

Identifiers

PMID40674274
PMCPMC12699189

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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.