Evidence map›Paper›PMID 40149433›Full record

ArticleGenes2025

Potential Role of

Antonino Musumeci, Mirella Vinci, Simone Treccarichi, Alda Ragalmuto, Giuseppe Bruno, Giordana Tinniriello, Jessica Farina, Concetta Federico, Salvatore Saccone, Francesco Calì and 1 more

Abstract readCase Reports
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. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Potential Association of theInternational journal of molecular sciences · 2025
    Article
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

11 authors.

Antonino MusumeciOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-8999-3365
Mirella VinciOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0003-3026-8510
Simone TreccarichiOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0001-5631-9991
Alda RagalmutoOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0002-7399-964X
Giuseppe BrunoDepartment of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", Anatomic Pathology, University of Catania, 95131 Catania, Italy.
Giordana TinnirielloDepartment of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", Anatomic Pathology, University of Catania, 95131 Catania, Italy.ORCID 0009-0005-2680-1804
Jessica FarinaDepartment of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", Anatomic Pathology, University of Catania, 95131 Catania, Italy.ORCID 0000-0002-5101-7836
Concetta FedericoDepartment Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy.
Salvatore SacconeDepartment Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy.ORCID 0000-0001-7568-5823
Francesco CalìOasi Research Institute-IRCCS, 94018 Troina, Italy.ORCID 0000-0001-8667-8223
Daniele PorruUrology Department, Fondazione IRCCS, San Matteo Hospital, 27100 Pavia, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesSymptoms of pudendal nerve neuropathy may overlap with various symptoms of interstitial cystitis (IC). As documented, there is a well-established correlation between the genes involved in ATP metabolism, neuropathy, and IC. ATP-binding cassette (ABC) transporters genes, in fact, are vital for ATP signaling. This study aims to associate the

methodsHistological analysis was conducted for diagnosing IC while the genetic variant was identified by whole exome sequencing (WES) Trio and confirmed through Sanger.

resultsWe report a patient with IC, confirmed by histological examination, presenting with a suspected bladder and pudendal nerve neuropathy, though not analytically confirmed. Histological analysis revealed urothelial detachment caused by a dense subepithelial lymphocytic infiltrate, predominantly composed of mast cells, which serve as key diagnostic markers for interstitial cystitis (IC). WES analysis identified the heterozygous genetic variant c.1253T>G p.Phe418Cys within

conclusionsAlthough the precise role of

Indexed as

Cystitis, InterstitialPudendal NeuralgiaExome SequencingHumansATP-binding cassette sub-family F member 2ATP metabolismgenetic variantinterstitial cystitispudendal nerve neuropathySanger sequencingurothelial destructionwhole exome sequencing

Identifiers

PMID40149433
PMCPMC11942409

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.