Evidence mapPaperPMID 41751772Full record

ArticleInternational journal of molecular sciences2026

Nonsense Mutation in

Rossella Valenzano, Xuefei Lu, Andrew McDonald, Ioannis Moustakas, Roberta Menafra, Aat A Mulder, Roman I Koning, Susan L Kloet, Jun Yang, Hailiang Mei and 1 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

11 authors.

Rossella ValenzanoDepartment of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.ORCID 0000-0001-5200-9144
Xuefei LuDepartment of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.
Andrew McDonaldDepartment of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.
Ioannis MoustakasDepartment of Biomedical Data Sciences, Sequencing Analysis Support Core, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.ORCID 0000-0002-0293-8540
Roberta MenafraDepartment of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.ORCID 0000-0002-5266-0639
Aat A MulderDepartment of Cell and Chemical Biology, Electron Microscopy Facility, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.ORCID 0000-0002-4779-099X
Roman I KoningDepartment of Cell and Chemical Biology, Electron Microscopy Facility, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.ORCID 0000-0001-6736-7147
Susan L KloetDepartment of Human Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.
Jun YangDepartment of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, 65 Mario Capecchi Drive, Salt Lake City, UT 84132, USA.ORCID 0000-0002-4799-0465
Hailiang MeiDepartment of Biomedical Data Sciences, Sequencing Analysis Support Core, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.ORCID 0000-0003-1781-5508
Jan WijnholdsDepartment of Ophthalmology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.ORCID 0000-0003-0099-460X

Funding

Disease mechanism of Usher syndrome 2R01EY034524 · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · 2025 to 2025
$399k
Dutch Blindness Funds Uitzicht 2021-11Dutch Blindness Funds Uitzicht 2023-05Landelijke Stichting voor Blinden en Slechtzienden Uitzicht 2021-11Landelijke Stichting voor Blinden en Slechtzienden Uitzicht 2023-05NEI NIH HHS R01 EY034524Rotterdamse Stichting Blindenbelangen Uitzicht 2021-11Stichting Blindenhulp Uitzicht 2021-11Stichting Oogfonds Uitzicht 2023-05Stichting Retina Nederland Fonds Uitzicht 2023-05Stichting UsherSyndroom Uitzicht 2021-11Stichting UsherSyndroom Uitzicht 2023-05
6 · The paper itself

Abstract

Pathological

Indexed as

Codon, NonsenseEpendymoglial CellsExonsExtracellular Matrix ProteinsImmunity, InnateUsher SyndromesHumansInduced Pluripotent Stem CellsCodon, NonsenseExtracellular Matrix ProteinsUSH2A protein, humandisrupted homeostasisIFITM2IFITM3innate immune systemMüller glial cellsretinal organoidsUSH2AUsher syndrome

Identifiers

PMID41751772
PMCPMC12940303

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.