Evidence map›Paper›PMID 31647904›Full record

ArticleExperimental eye research2019

Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.

Maria Toms, Adam M Dubis, Wei Sing Lim, Andrew R Webster, Michael B Gorin, Mariya Moosajee

Open access · hybridAbstract read
In one paragraph

Article in Experimental eye research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.9field-weighted citation impact, top 27% 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

9 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Review
  6. Inward rectifier potassium (Kir) channels in the retina: living our vision.American journal of physiology. Cell physiology · 2022
    Review
  7. Kir7.1 disease mutant T153I within the inner pore affects KAmerican journal of physiology. Cell physiology · 2022
    Article
  8. Article
  9. The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.American journal of medical genetics. Part C, Seminars in medical genetics · 2020
    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

6 authors at 4 institutions in 2 countries.

Maria TomsUCL Institute of Ophthalmology, London, UK.
Adam M DubisUCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Wei Sing LimMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Andrew R WebsterUCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Michael B GorinDepartment of Ophthalmology, Jules Stein Eye Institute, David Geffen School of Medicine, UCLA Los Angeles, USA.
Mariya MoosajeeUCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK. Electronic address: m.moosajee@ucl.ac.uk.
Moorfields Eye Hospital NHS Foundation Trust · GBUniversity College London · GBDoheny Eye Institute · USMoorfields Eye Hospital · GB

Funding

Wellcome Trust 205174/Z/16/Z
6 · The paper itself

Abstract

Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). We describe a novel fibrovascular proliferation in the retina of two affected members of a KCNJ13-related LCA family with a homozygous c.458C > T, p.(Thr153Ile) missense mutation. Optical coherence tomography retinal imaging of the kcnj13 mutant zebrafish (obelix

Indexed as

Mutation, MissenseAdolescentAdultAgedAged, 80 and overAnimalsChildDisease Models, AnimalDNADNA Mutational AnalysisFemaleFluorescein AngiographyFundus OculiHumansLeber Congenital AmaurosisMaleDNAKCNJ13 protein, humanPotassium Channels, Inwardly Rectifying

Identifiers

PMID31647904
PMCPMC6899441
OpenAlexW2982232902

What OpenQuestion 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 OpenQuestion graph.