Evidence map›Paper›PMID 42466416›Full record

ArticleResearch square2026

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Karolina Kaminska, Abigail R Moye, Mathieu Quinodoz, Elena A Zehr, Amel Aiteur, Giacomo Calzetti, Pilar Barberán-Martínez, Laura Kuehlewein, Jan-Philipp Bodenbender, Miriam Ehrenberg and 31 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in Research square, 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

41 authors.

Karolina KaminskaInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0002-4720-5527
Abigail R MoyeInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Mathieu QuinodozInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Elena A ZehrCell Biology and Biophysics Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
Amel AiteurJules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland.
Giacomo CalzettiInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Pilar Barberán-MartínezMolecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain.
Laura KuehleweinCenter for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.ORCID 0000-0003-1906-8681
Jan-Philipp BodenbenderCenter for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.
Miriam EhrenbergDepartment of Ophthalmology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.ORCID 0000-0001-6714-9051
Samir KhandhadiaSouthampton Eye Unit, University Hospital Southampton, Southampton, UK.
Dinah ZurGray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Shiri Zayit-SoudryGray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Valeria BariliDepartment of Medicine and Surgery, University of Parma, Parma, Italy.
Enrico AmbrosiniMedical Genetics, University Hospital of Parma, Parma, Italy.
Giorgia OttonelliVista Vision Eye Clinic, Brescia, Italy.
Anselmo Feliciano-SánchezDepartment of Ophthalmology, La Fe University and Polytechnic Hospital, Valencia, Spain.ORCID 0000-0001-5965-5851
Isabelle MüllerEye Clinic, Luzerner Kantonsspital (LUKS), Luzern, Switzerland.
Sandrine WallerichInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Patricia GallikerInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Alexandre P MoulinJules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland.
Theresia ZulegerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID 0000-0001-6033-4836
Bernd WissingerInstitute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.
Katarina StinglCenter for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-8132-911X
Gema García-GarcíaMolecular, Cellular, and Genomic Biomedicine Group, Health Research Institute La Fe, Valencia, Spain.
Moreno MenghiniOphthalmology Service, Institute of Clinical Neurosciences of Southern Switzerland (INSI), Ente Ospedaliero Cantonale (EOC), Lugano, Switzerland.
Ajoy VincentDepartment of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Elise HéonDepartment of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0003-4143-9311
Omar A MahrooNIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.ORCID 0000-0003-1254-0832
Andrew J LoterySouthampton Eye Unit, University Hospital Southampton, Southampton, UK.ORCID 0000-0001-5541-4305
Andrew R WebsterNIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.ORCID 0000-0001-6915-9560
Gavin ArnoNIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.ORCID 0000-0002-6165-7888
José M MillánMolecular, Cellular, and Genomic Biomedicine Group, Valencia, Spain.ORCID 0000-0002-7211-9129
Tamar Ben-YosefThe Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Michel MichaelidesNIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.
Siying LinManchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.ORCID 0000-0003-1122-8396
Susanne KohlInstitute for Ophthalmic Research, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-6438-6331
Antonina Roll-MecakCell Biology and Biophysics Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.
H Viet TranJules-Gonin Eye Hospital, Fondation Asile des Aveugles, University of Lausanne, Lausanne, Switzerland.
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID 0000-0002-0733-9950

Funding

Statistical Methods for Gene Regulatory Analysis From Single Cell Genomics DataP20GM139769 · NIGMS · CLEMSON UNIVERSITY · PI ANHOLT, ROBERT R. H, ARNO, GAVIN · 2021 to 2025
$10.8M
NIGMS NIH HHS P20 GM139769Wellcome Trust
6 · The paper itself

Abstract

Inherited retinal diseases (IRDs) encompass a broad spectrum of genetic conditions leading to visual impairment. In this study, we identify

Indexed as

Inherited retinal diseasesIRDkataninKATNA1macular dystrophymicrotubulesmicrotubule-severingseverases

Identifiers

PMID42466416
PMCPMC13370650

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.