Evidence map›Paper›PMID 28132693›Full record

ArticleAmerican journal of human genetics2017

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Gavin Arno, Keren J Carss, Sarah Hull, Ceniz Zihni, Anthony G Robson, Alessia Fiorentino, UK Inherited Retinal Disease Consortium, Alison J Hardcastle, Graham E Holder, Michael E Cheetham and 7 more

Open access · bronzeAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
1.6field-weighted citation impact, top 17% 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

16 citing papers in PubMed, 36 citations in OpenAlex.

  1. Article
  2. Article
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  5. Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022
    Review
  6. Review
  7. Article
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  12. Review
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  15. Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Article
  16. 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

17 authors at 7 institutions in 2 countries.

Gavin ArnoUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK.
Keren J CarssDepartment of Haematology, University of Cambridge NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
Sarah HullUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK.
Ceniz ZihniUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Anthony G RobsonUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK.
Alessia FiorentinoUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
UK Inherited Retinal Disease Consortium
Alison J HardcastleUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Graham E HolderUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK.
Michael E CheethamUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Vincent PlagnolUniversity College London Genetics Institute, London WC1E 6BT, UK.
NIHR Bioresource - Rare Diseases Consortium
Anthony T MooreUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK; Ophthalmology Department, UCSF School of Medicine, Koret Vision Centre, San Francisco, CA 94133-0644, USA.
F Lucy RaymondNIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.
Karl MatterUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Maria S BaldaUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Andrew R WebsterUCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK. Electronic address: andrew.webster@ucl.ac.uk.
University College London · GBMoorfields Eye Hospital · GBMoorfields Eye Hospital NHS Foundation Trust · GBCambridge University Hospitals NHS Foundation Trust · GBKoret Foundation · USNHS Blood and Transplant · GBUniversity of Cambridge · GB

Funding

Biotechnology and Biological Sciences Research Council BB/L007584/1Biotechnology and Biological Sciences Research Council BB/N014855/1Medical Research Council G0600237Medical Research Council G0900098Medical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MR/K006584/1Medical Research Council MR/K023489/1Medical Research Council MR/M009203/1Wellcome Trust 205041/Z/16/Z
6 · The paper itself

Abstract

Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum of pathways. The presence of unsolved families after highly parallel sequencing strategies suggests that further genes remain to be identified. Whole-exome and -genome sequencing studies employed here in large cohorts of affected individuals revealed biallelic mutations in ARHGEF18 in three such individuals. ARHGEF18 encodes ARHGEF18, a guanine nucleotide exchange factor that activates RHOA, a small GTPase protein that is a key component of tight junctions and adherens junctions. This biological pathway is known to be important for retinal development and function, as mutation of CRB1, encoding another component, causes retinal dystrophy. The retinal structure in individuals with ARHGEF18 mutations resembled that seen in subjects with CRB1 mutations. Five mutations were found on six alleles in the three individuals: c.808A>G (p.Thr270Ala), c.1617+5G>A (p.Asp540Glyfs

Indexed as

Cell PolarityAdultAllelesAmino Acid SequenceEpithelial CellsExomeEye ProteinsFemaleGenetic VariationGenome-Wide Association StudyGenotypeHumansMaleMembrane ProteinsMiddle AgedMutation, MissenseARHGEF18 protein, humanCRB1 protein, humanEye ProteinsMembrane ProteinsNerve Tissue ProteinsrhoA GTP-Binding ProteinRHOA protein, humanRho Guanine Nucleotide Exchange Factorsapicobasal polarityARHGEF18inherited retinal dystrophyp114RhoGEFretinal degenerationretinitis pigmentosa

Identifiers

PMID28132693
PMCPMC5294887
OpenAlexW2582713998

What OpenQuestion holds

Textmetadata
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.