Evidence map›Paper›PMID 41226632›Full record

ArticleInternational journal of molecular sciences2025

Usmani-Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the

Valentina Imperatore, Alessandra Mirarchi, Emanuele Agolini, Andrea Astolfi, Maria Letizia Barreca, Antonio Novelli, Elisa Vinciarelli, Sara Ferretti, Daniela Zizioli, Giuseppe Borsani and 2 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 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

12 authors.

Valentina ImperatoreDepartment of Medicine and Surgery, University of Perugia, 06123 Perugia, Italy.ORCID 0000-0002-3608-6999
Alessandra MirarchiDepartment of Medicine and Surgery, University of Perugia, 06123 Perugia, Italy.
Emanuele AgoliniLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00168 Rome, Italy.ORCID 0000-0001-6543-6225
Andrea AstolfiDepartment of Pharmaceutical Sciences, University of Perugia, 06123 Perugia, Italy.ORCID 0000-0003-3337-2372
Maria Letizia BarrecaDepartment of Pharmaceutical Sciences, University of Perugia, 06123 Perugia, Italy.
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00168 Rome, Italy.ORCID 0000-0002-9037-4297
Elisa VinciarelliMedical Genetics Unit, Azienda Ospedaliera S. Maria Della Misericordia of Perugia, 06129 Perugia, Italy.
Sara FerrettiDepartment of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Daniela ZizioliDepartment of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.ORCID 0000-0003-0451-8029
Giuseppe BorsaniDepartment of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
Cataldo ArcuriDepartment of Medicine and Surgery, University of Perugia, 06123 Perugia, Italy.ORCID 0000-0002-3114-8812
Paolo PronteraMedical Genetics Unit, Azienda Ospedaliera S. Maria Della Misericordia of Perugia, 06129 Perugia, Italy.

Funding

Fondazione Cassa di Risparmio di Foligno 21722Ministero della Salute SG-2018-12368345
6 · The paper itself

Abstract

Adaptor Protein-1 (AP-1) is a heterotetrameric essential for intracellular vesicular trafficking and polarized localization of somato-dendritic proteins in neurons. Variants in the

Indexed as

Adaptor Protein Complex 1Intellectual DisabilityAnimalsDisease Models, AnimalFemaleHumansMutation, MissensePhenotypeZebrafishAdaptor Protein Complex 1AP1G1brain disordercentral nervous systemintellectual disabilitylocomotor behaviorneurodevelopmental delayUsmani–Riazzudin syndromeUSRISwhole-exome sequencingzebrafish

Identifiers

PMID41226632
PMCPMC12610428

What Socratic 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 Socratic graph.