Evidence map›Paper›PMID 41300798›Full record

ArticleGenes2025

Functional Characterization of a Novel

Caterina Scolari, Angelo Corso Faini, Giulia Verra, Martina Migliorero, Giulia Margherita Brach Del Prever, Claudia Saglia, Fiorenza Mioli, Carmelo Maria Romeo, Tullia Carradori, Maria Luca and 5 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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

15 authors.

Caterina ScolariDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.
Angelo Corso FainiDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.ORCID 0000-0003-2193-4577
Giulia VerraDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.
Martina MiglioreroDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.
Giulia Margherita Brach Del PreverDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.
Claudia SagliaDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.ORCID 0009-0009-1564-0389
Fiorenza MioliDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.
Carmelo Maria RomeoDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.
Tullia CarradoriDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.
Maria LucaDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.ORCID 0009-0006-1239-0829
Francesca ArrugaImmunogenetics and Transplant Biology Service, Città della Salute e della Scienza Hospital, 10126 Turin, Italy.
Francesca MattozziPediatric Nephrology, Regina Margherita Children's Hospital, Department of Public Health and Pediatric Sciences, University of Torino, 10126 Turin, Italy.
Licia PeruzziPediatric Nephrology, Regina Margherita Children's Hospital, Department of Public Health and Pediatric Sciences, University of Torino, 10126 Turin, Italy.ORCID 0000-0002-5704-3867
Silvia DeaglioDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.ORCID 0000-0003-0632-5036
Tiziana VaisittiDepartment of Medical Sciences, University of Torino, Via Santena 19, 10126 Turin, Italy.ORCID 0000-0002-3375-6985

Funding

Associazione Italiana Rene Policistico AIRP-2022Ministero dell'università e della ricerca D15D18000410001University of Turin ex-60% Ricerca Locale 2018-grantUniversity of Turin ex-60% Ricerca Locale 2019-grant
6 · The paper itself

Abstract

backgroundGenetic variants in

methodsClinical exome sequencing was performed on a 4-year-old child, followed by Sanger sequencing and family segregation studies to validate the identified variant. Functional assays to study the protein expression, molecular interactions and localization were then performed.

resultsGenetic analysis identified a novel de novo variant [c.712C>T, p.(Arg238Trp), NM_002585.3], mapping in the first nuclear localization signal (NLS) of PBX1. When introduced in HEK293T cells,

conclusionsIn conclusion, we identified a novel de novo heterozygous missense variant in

Indexed as

KidneyMutation, MissensePre-B-Cell Leukemia Transcription Factor 1Urogenital AbnormalitiesChild, PreschoolExome SequencingHEK293 CellsHumansPBX1 protein, humanPre-B-Cell Leukemia Transcription Factor 1congenital anomalies of the kidney and urinary tractfunctional validationgenetic variant

Identifiers

PMID41300798
PMCPMC12652685

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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.