Evidence map›Paper›PMID 41828587›Full record

ArticleInternational journal of molecular sciences2026

A Novel Heterozygous

Emilia Stellacci, Lucia Ziccardi, Alessandro Bruselles, Carmen Dell'Aquila, Luca Mignini, Marcello Niceta, Luigi Chiriatti, Mattia Carvetta, Erika Zara, Alessandro Leone and 5 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. 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.

Emilia StellacciDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.ORCID 0000-0003-0415-3285
Lucia ZiccardiIRCCS-Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy.ORCID 0000-0002-5563-1243
Alessandro BrusellesDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.ORCID 0000-0002-1556-4998
Carmen Dell'AquilaIRCCS-Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy.ORCID 0000-0003-4395-0818
Luca MigniniMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy.ORCID 0009-0005-7384-6212
Marcello NicetaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy.ORCID 0000-0003-4766-7753
Luigi ChiriattiMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy.ORCID 0009-0006-0604-1796
Mattia CarvettaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy.ORCID 0000-0003-4584-0663
Erika ZaraCNMR, Istituto Superiore di Sanità, 00161 Rome, Italy.ORCID 0000-0003-0292-6862
Alessandro LeoneDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.ORCID 0009-0004-6103-3559
Serena CecchettiConfocal Microscopy Unit-Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy.ORCID 0000-0002-3601-176X
Simona CoppolaCNMR, Istituto Superiore di Sanità, 00161 Rome, Italy.ORCID 0000-0001-7851-9409
Vincenzo ParisiIRCCS-Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy.
Marco TartagliaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy.ORCID 0000-0001-7736-9672
Viviana CordedduDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.

Funding

Istituto Superiore di Sanità ISS 2021-2023, ISS20-5656c541c257Istituto Superiore di Sanità ISS 2023, ISS20-2e15b898baf0Italian Ministry of Health RF-2021-12374963
6 · The paper itself

Abstract

Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies characterized by the progressive degeneration of photoreceptors, leading to night blindness and gradual loss of peripheral vision. RP is characterized by a substantial genetic heterogeneity, with more than 85 genes implicated across autosomal dominant, autosomal recessive, and X-linked inheritance patterns. Recent studies have identified mutations in the

Indexed as

ADP-Ribosylation FactorsMutationRetinitis PigmentosaFemaleHeterozygoteHumansPedigreePhenotypeADP-Ribosylation FactorsARL3 protein, humanARL3ciliopathiesfunctional validationretinal dystrophyretinitis pigmentosa

Identifiers

PMID41828587
PMCPMC12986100

What OpenQuestion holds

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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.