Evidence map›Paper›PMID 31726916›Full record

ArticleJournal of biological rhythms2020

RNA Splicing Factor Mutations That Cause Retinitis Pigmentosa Result in Circadian Dysregulation.

Iryna Shakhmantsir, Scott J Dooley, Siddharth Kishore, Dechun Chen, Eric Pierce, Jean Bennett, Amita Sehgal

Open access · greenAbstract read
In one paragraph

Article in Journal of biological rhythms, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.3field-weighted citation impact, top 43% of its field
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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Observational
  3. Article
  4. Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022
    Review
  5. 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

7 authors at 3 institutions in 1 country.

Iryna ShakhmantsirChronobiology and Sleep institute (CSI) and Howard Hughes Medical Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.ORCID 0000-0003-2138-0236
Scott J DooleyGraduate Program in Cell and Molecular Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Siddharth KishoreGraduate Program in Cell and Molecular Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Dechun ChenChronobiology and Sleep institute (CSI) and Howard Hughes Medical Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Eric PierceOcular Genomics Institute, Mass Eye and Ear, Harvard Medical School, Boston, Massachusetts.
Jean BennettCenter for Advanced Retinal and Ocular Therapeutics, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Amita SehgalChronobiology and Sleep institute (CSI) and Howard Hughes Medical Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.ORCID 0000-0001-7354-9641
Howard Hughes Medical Institute · USUniversity of Pennsylvania · USMassachusetts Eye and Ear Infirmary · US

Funding

The Pathogenesis of RNA Splicing Factor RPR01EY020902 · NEI · UNIVERSITY OF PENNSYLVANIA · PI PIERCE, ERIC A · 2011 to 2024
$7.2M
Cycling in a circadian circuitR37NS048471 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI SEHGAL, AMITA · 2015 to 2021
$2.7M
Howard Hughes Medical InstituteNEI NIH HHS R01 EY020902NINDS NIH HHS R37 NS048471
6 · The paper itself

Abstract

Circadian clocks regulate multiple physiological processes in the eye, but their requirement for retinal health remains unclear. We previously showed that Drosophila homologs of spliceosome proteins implicated in human retinitis pigmentosa (RP), the most common genetically inherited cause of blindness, have a role in the brain circadian clock. In this study, we report circadian phenotypes in murine models of RP. We found that mice carrying a homozygous H2309P mutation in

Indexed as

MutationAdultAnimalsCells, CulturedChronobiology DisordersCircadian RhythmDisease Models, AnimalEye ProteinsFibroblastsHumansLuminescenceMaleMiceMiddle AgedRetinaRetinal Pigment EpitheliumEye ProteinsRNA Splicing Factorsalternative splicingcircadian clockshuman disease modelPrpf31Prpf8retinitis pigmentosatri-snRNP

Identifiers

PMID31726916
PMCPMC7428848
OpenAlexW2985375321

What OpenQuestion holds

Textmetadata
LicenceTDM
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.