Evidence map›Paper›PMID 39574431›Full record

ArticleBrain communications2024

Loss of tissue-type plasminogen activator causes multiple developmental anomalies.

Kevin Uguen, Tanja Frey, Osama Muthaffar, Jean-Claude Décarie, Najim Ameziane, Sarah Boissel, Yalda Baradaran-Heravi, Anita Rauch, Gabriela Oprea, Aboulfazl Rad and 2 more

Abstract read
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In one paragraph

Article in Brain communications, 2024. 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

12 authors.

Kevin UguenCHU Sainte-Justine Azrieli Research Centre, Montreal H3T 1C5, Canada.ORCID https://orcid.org/0000-0002-6744-2837
Tanja FreyInstitute of Medical Genetics, University of Zürich, Schlieren-Zurich 8952, Switzerland.
Osama MuthaffarDepartment of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Jean-Claude DécarieDepartment of Medical Imaging, CHU Sainte-Justine, Montreal, Quebec H3T 1C5, Canada.
Najim AmezianeArcensus GmbH, Rostock 18119, Germany.
Sarah BoisselCHU Sainte-Justine Azrieli Research Centre, Montreal H3T 1C5, Canada.
Yalda Baradaran-HeraviInstitute of Medical Genetics, University of Zürich, Schlieren-Zurich 8952, Switzerland.
Anita RauchInstitute of Medical Genetics, University of Zürich, Schlieren-Zurich 8952, Switzerland.ORCID https://orcid.org/0000-0003-2930-3163
Gabriela OpreaArcensus GmbH, Rostock 18119, Germany.
Aboulfazl RadArcensus GmbH, Rostock 18119, Germany.
Katharina SteindlInstitute of Medical Genetics, University of Zürich, Schlieren-Zurich 8952, Switzerland.
Jacques L MichaudCHU Sainte-Justine Azrieli Research Centre, Montreal H3T 1C5, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hydrocephalus and Dandy-Walker malformation are amongst the most common congenital brain anomalies. We identified three consanguineous families with both obstructive hydrocephalus and Dandy-Walker malformation. To understand the molecular basis of these anomalies, we conducted genome-wide sequencing in these families. We identified three homozygous truncating variants in the

Indexed as

Dandy–Walker malformationhydrocephalusintellectual disabilityplasminogenPLAT

Identifiers

PMID39574431
PMCPMC11580217

What OpenQuestion holds

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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.