Evidence map›Paper›PMID 40244109›Full record

ArticleInternational journal of molecular sciences2025

Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in

Lucia Ziccardi, Lucilla Barbano, Mattia D'Andrea, Alessandro Bruselles, Carmen Dell'Aquila, Marcello Niceta, Cecilia Mancini, Alessandro Leone, Mattia Carvetta, Maria Albanese and 3 more

Abstract readCase Reports
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. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Glycosylation of the retina.Biochemical Society transactions · 2026
    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

13 authors.

Lucia ZiccardiClinical and Research Center of Neurophthalmology and Genetic and Rare Diseases of the Eye, IRCCS-Fondazione Bietti, 00198 Rome, Italy.ORCID 0000-0002-5563-1243
Lucilla BarbanoClinical and Research Center of Neurophthalmology and Genetic and Rare Diseases of the Eye, IRCCS-Fondazione Bietti, 00198 Rome, Italy.
Mattia D'AndreaDepartment of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0001-9074-3964
Alessandro BrusellesDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.ORCID 0000-0002-1556-4998
Carmen Dell'AquilaClinical and Research Center of Neurophthalmology and Genetic and Rare Diseases of the Eye, IRCCS-Fondazione Bietti, 00198 Rome, Italy.ORCID 0000-0003-4395-0818
Marcello NicetaMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.ORCID 0000-0003-4766-7753
Cecilia ManciniMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Alessandro LeoneDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Mattia CarvettaMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.ORCID 0000-0003-4584-0663
Maria AlbaneseDepartment of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.ORCID 0000-0002-5113-2017
Emilia StellacciDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.ORCID 0000-0003-0415-3285
Marco TartagliaMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.ORCID 0000-0001-7736-9672
Viviana CordedduDepartment of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

O-mannosylation is a post-translational modification required for the proper function of various proteins and critical for development and growth.

Indexed as

Loss of Function MutationN-AcetylglucosaminyltransferasesAdolescentAdultAllelesChildFemaleHumansMalePedigreePhenotypeN-Acetylglucosaminyltransferasesprotein O-mannose beta-1,2-N-acetylglucosaminyltransferasemuscle–eye–brain diseaseO-linked mannosePOMGNT1retinitis pigmentosawhole exome sequencingα-dystroglycanopathies

Identifiers

PMID40244109
PMCPMC11989775

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.