ArticleNature communications2018
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.
Registry-linked trialOpen access · goldAbstract read
In one paragraph
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05537220 (NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients With Retinitis Pigmentosa), which is not on this map. Cited by 145 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
145citing papers in PubMed, 1 pooled it
8.9field-weighted citation impact, top 1% of its field
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.
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.
NCT05537220 phase3active not recruitingnot on this mapstarted 2023, after this paper: background citation
NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients With Retinitis Pigmentosa
Who cites it
145 citing papers in PubMed, 1 synthesis or guideline pooled it, 228 citations in OpenAlex.
- Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.Stem cell reviews and reports · 2025Pooled it
- Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by PRPF31.AAV gene therapy.Nature communications · 2026Article
- The EDC mixture "NeuroMix" alters neuroendocrine physiology, fatty food preference, and the central reward transcriptome.Endocrinology · 2026Article
- TAR syndrome causal gene RBM8A is critical for embryonic bone development and proper Hedgehog signaling.Research square · 2026Article
- Retinal organoids: current status of development and new avenues for application in disease modeling, drug discovery and therapeutics.International journal of retina and vitreous · 2026Review
- TAR syndrome causal genebioRxiv : the preprint server for biology · 2026Article
- From Genetic Diagnosis to Therapeutic Implementation in Retinal Diseases: Translational Advances and Persistent Bottlenecks.Biomedicines · 2026Review
- Review
- PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defects.Scientific reports · 2026Article
- PRPF8 Mutation-Induced Defects in Human iPSC-Derived RPE Are Rescued by Adenine Base Editing.Investigative ophthalmology & visual science · 2026Article
- Neurodegenerative spliceosomopathies.Frontiers in cell and developmental biology · 2026Review
- Single-Cell Transcriptomics onBiomedicines · 2025Article
- Direct and indirect effects of spliceosome disruption compromise gene regulation by nonsense-mediated mRNA decay.RNA biology · 2025Article
- Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing.Cellular and molecular life sciences : CMLS · 2025Review
- Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Biomolecules · 2025Review
- Organoids in Genetic Disorders: from Disease Modeling to Translational Applications.Stem cell reviews and reports · 2025Review
- The RNA content of extracellular vesicles from gene-editedMolecular therapy. Methods & clinical development · 2025Article
- Screening of candidate analgesics using a patient-derived human iPSC model of nociception identifies putative compounds for therapeutic treatment.Clinical and translational medicine · 2025Article
- Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies.Communications medicine · 2025Article
- Retinal Organoids: Innovative Tools for Understanding Retinal Degeneration.International journal of molecular sciences · 2025Review
85 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
42 authors at 10 institutions in 5 countries.
Adriana BuskinInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Lili ZhuInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Valeria ChichagovaInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Basudha BasuLeeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK.
Sina Mozaffari-JovinDepartment of Cellular Biochemistry, Max-Planck-Institute of Biophysical Chemistry, Am Fassberg 11, Goettingen, D-37077, Germany.
David DolanDepartment of Biological Sciences, Durham University, South Road, Durham, DH1 3LE, UK.
Alastair DroopMRC Medical Bioinformatics Centre, University of Leeds, Clarendon Way, Leeds, LS2 9JT, UK.
Joseph CollinInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Revital BronsteinOcular Genomics Institute, Mass Eye and Ear and Harvard Medical School, 243 Charles Street, Boston, MA, 02114, USA.
Sudeep MehrotraOcular Genomics Institute, Mass Eye and Ear and Harvard Medical School, 243 Charles Street, Boston, MA, 02114, USA.
Michael FarkasDepartments of Ophthalmology and Biochemistry, Jacobs School of Medicine and Biomedical Science, State University of New York at Buffalo, 955 Main Street, Buffalo, NY, 14203-1121, USA.
Gerrit HilgenInstitute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK.
Kathryn WhiteElectron Microscopy Research Services, Medical School, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK.
Kuan-Ting PanDepartment of Cellular Biochemistry, Max-Planck-Institute of Biophysical Chemistry, Am Fassberg 11, Goettingen, D-37077, Germany.
Achim TreumannInstitute for Cell and Molecular Biosciences, Medical School, Newcastle University, Catherine Cookson Building, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
Dean HallamInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Katarzyna BialasInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Git ChungNewcastle University Protein and Proteome Analysis (NUPPA), Devonshire Building, Devonshire Terrace, Newcastle upon Tyne, NE1 7RU, UK.
Carla MelloughInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Yuchun DingInterdisciplinary Computing and Complex Biosystems (ICOS) Research Group, School of Computing, Newcastle University, Urban Sciences Building, 1 Science Square, Newcastle Helix, Newcastle upon Tyne, NE4 5TG, UK.
Natalio KrasnogorInterdisciplinary Computing and Complex Biosystems (ICOS) Research Group, School of Computing, Newcastle University, Urban Sciences Building, 1 Science Square, Newcastle Helix, Newcastle upon Tyne, NE4 5TG, UK.
Stefan PrzyborskiDepartment of Biological Sciences, Durham University, South Road, Durham, DH1 3LE, UK.
Simon ZwolinskiInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Jumana Al-AamaPrincess Al Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, 7393 Al-Malae'b St, Jeddah, 22252, Saudi Arabia.
Sameer AlharthiPrincess Al Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, 7393 Al-Malae'b St, Jeddah, 22252, Saudi Arabia.
Yaobo XuInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Gabrielle WhewayCentre for Research in Biosciences, University of the West of England, Frenchay Campus, Coldharbour Lane, Bristol, BS16 1QY, UK.
Katarzyna SzymanskaLeeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK.ORCID http://orcid.org/0000-0001-7736-5225
Martin McKibbinLeeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK.
Chris F InglehearnLeeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK.
David J ElliottInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Susan LindsayInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Robin R AliUCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL, UK.
David H SteelInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.ORCID http://orcid.org/0000-0001-8734-3089
Lyle ArmstrongInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.
Evelyne SernagorInstitute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne, NE1 7RU, UK.ORCID http://orcid.org/0000-0003-3803-257X
Henning UrlaubBioanalytical Mass Spectrometry Group, Max-Planck-Institute for Biophysical Chemistry, Am Fassberg 11, Goettingen, D-37077, Germany.
Eric PierceOcular Genomics Institute, Mass Eye and Ear and Harvard Medical School, 243 Charles Street, Boston, MA, 02114, USA.
Reinhard LührmannDepartment of Cellular Biochemistry, Max-Planck-Institute of Biophysical Chemistry, Am Fassberg 11, Goettingen, D-37077, Germany.
Sushma-Nagaraja GrellscheidDepartment of Biological Sciences, Durham University, South Road, Durham, DH1 3LE, UK. sushma@cantab.net.
Colin A JohnsonLeeds Institute of Medical Research, University of Leeds, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK. c.johnson@leeds.ac.uk.
Majlinda LakoInstitute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. majlinda.lako@ncl.ac.uk.ORCID http://orcid.org/0000-0003-1327-8573
Newcastle University · GBUniversity of Leeds · GBMax Planck Institute for Biophysical Chemistry · DEDurham University · GBMassachusetts Eye and Ear Infirmary · USKing Abdulaziz University · SACentre for Life · GBUniversity at Buffalo, State University of New York · USUniversity College London · GBUniversity of the West of England · GB
Funding
The Pathogenesis of RNA Splicing Factor RPR01EY020902 · NEI · UNIVERSITY OF PENNSYLVANIA · PI PIERCE, ERIC A · 2011 to 2024
$7.2MEC | European Research Council (ERC) 614620Fight for Sight UK 1456/1457Medical Research Council MC_PC_15030Medical Research Council MR/J004553/1Medical Research Council MR/K011154/1Medical Research Council MR/L01629X/1Medical Research Council MR/M000532/1Medical Research Council MR/N005872/1Medical Research Council MR/R011338/1National Centre for the Replacement, Refinement and Reduction of Animals in Research (NC3Rs) NC/CO16206/1NEI NIH HHS R01 EY020902
Abstract
Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed genes cause non-syndromic retinal disease. Here, we generate transcriptome profiles from RP11 (PRPF31-mutated) patient-derived retinal organoids and retinal pigment epithelium (RPE), as well as Prpf31
Indexed as
Alternative SplicingAnimalsCell AdhesionCell DifferentiationCiliaEye ProteinsFlow CytometryHumansImmunohistochemistryInduced Pluripotent Stem CellsMiceMutationOrganoidsRetinaRetinitis PigmentosaRNA SplicingEye ProteinsPRPF31 protein, mouse
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
NCT05537220ClinicalTrials.gov
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.