Evidence map›Paper›PMID 36769033›Full record

ArticleInternational journal of molecular sciences2023

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.

Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell'Orco, Nicole Weisschuh

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Ciliary ARL13B Is Essential for Vision and Morphogenesis of Cone Outer Segments.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025
    Article
  3. Article
  4. Article
  5. Observational
  6. Deciphering complexity:Frontiers in genetics · 2024
    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

10 authors.

Jan-Philipp BodenbenderDepartment for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany.
Valerio MarinoSection of Biological Chemistry, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37124 Verona, Italy.ORCID 0000-0001-7821-3717
Leon BethgeDepartment for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany.
Katarina StinglDepartment for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0002-8132-911X
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0001-6033-4836
Saskia BiskupPraxis für Humangenetik, 72076 Tübingen, Germany.
Susanne KohlDepartment for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0002-6438-6331
Laura KühleweinDepartment for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0003-1906-8681
Daniele Dell'OrcoSection of Biological Chemistry, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37124 Verona, Italy.ORCID 0000-0002-3724-3044
Nicole WeisschuhDepartment for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, 72076 Tübingen, Germany.ORCID 0000-0002-1047-6227

Funding

Deutsche Forschungsgemeinschaft 418081722, 433158657Fondo Sociale Europeo REACT EU - Programma Operativo Nazionale "Ricerca e innovazione" 2014-2020 Metalli pesanti e degenerazioni retiniche: geni o ambiente?Tistou and Charlotte Kerstan Foundation Cohort studies in patients with inherited retinal dystrophies
6 · The paper itself

Abstract

Biallelic pathogenic variants in

Indexed as

Retinal DystrophiesRetinitis PigmentosaEye ProteinsHumansMutationMutation, MissensePedigreePhenotypeRetinal Cone Photoreceptor CellsEye ProteinsTULP1 protein, humancone dystrophycone-rod dystrophyinherited retinal degenerationLeber congenital amaurosisminigene assayretinitis pigmentosastructural analysisTubby domainTULP1unfolded protein response

Identifiers

PMID36769033
PMCPMC9916573

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.