Evidence map›Paper›PMID 41683570›Full record

ArticleInternational journal of molecular sciences2026

Potential Link Between a Disruptive

Francesco Calì, Simone Treccarichi, Mirella Vinci, Emanuela Avola, Antonino Musumeci, Alda Ragalmuto, Carola Costanza, Donatella Greco, Desiree Brancato, Concetta Federico and 6 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Review
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

16 authors.

Francesco CalìOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0001-8667-8223
Simone TreccarichiOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0001-5631-9991
Mirella VinciOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0003-3026-8510
Emanuela AvolaOasi Research Institute-IRCCS, 94018 Troina, Italy.
Antonino MusumeciOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-8999-3365
Alda RagalmutoOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-7399-964X
Carola CostanzaOasi Research Institute-IRCCS, 94018 Troina, Italy.
Donatella GrecoOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0003-1319-1363
Desiree BrancatoDepartment of Biological, Geological and Environmental Sciences, University of Catania, 95124 Catania, Italy.ORCID 0009-0003-2513-1349
Concetta FedericoDepartment of Biological, Geological and Environmental Sciences, University of Catania, 95124 Catania, Italy.ORCID 0000-0002-0160-9040
Santina CittàOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0001-7618-3673
Francesco Domenico Di BlasiOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-2958-2927
Salvatore SacconeDepartment of Biological, Geological and Environmental Sciences, University of Catania, 95124 Catania, Italy.ORCID 0000-0001-7568-5823
Paolo ScudieriMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0002-8112-4800
Federico ZaraMedical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0001-9744-5222
Maurizio EliaOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-0414-1359

Funding

Italian Ministry of Health Ricerca Corrente 551 2017-2023" and 5xmille
6 · The paper itself

Abstract

The placenta is often described as the "window to the brain" due to its crucial role in fetal neurological development. In this study, we investigated a family where the older male offspring exhibited severe neurodevelopmental and mild motor coordination disorders. His brother displayed emotional and behavioral dysregulation along with mild motor coordination disorders. The father was asymptomatic, while the mother and daughter showed mild learning disabilities. Whole exome sequencing (WES) identified a disruptive X-linked pathogenic variant, c.1088_1089del p.Asp363GlyfsTer2, within the calpain-6 (

Indexed as

CalpainNeurodevelopmental DisordersExome SequencingFemaleHumansMalePedigreePlacentaPregnancyCalpaincalpain 6next generation sequencingplacental developmental disordersvascular endothelial growth factor

Identifiers

PMID41683570
PMCPMC12897768

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.