Evidence map›Paper›PMID 37989423›Full record

ArticleBiochimica et biophysica acta. Molecular basis of disease2024

Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.

Hajrah Sarkar, Dhani Tracey-White, Ahmed M Hagag, Thomas Burgoyne, Neelima Nair, Lasse D Jensen, Malia M Edwards, Mariya Moosajee

Open access · hybridAbstract read
In one paragraph

Article in Biochimica et biophysica acta. Molecular basis of disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 29% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Genetic Analysis of Choroideremia-Related Rab Escort Proteins.International journal of molecular sciences · 2025
    Article
  2. Article
  3. 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

8 authors at 4 institutions in 3 countries.

Hajrah SarkarDevelopment, Ageing and Disease, UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.
Dhani Tracey-WhiteDevelopment, Ageing and Disease, UCL Institute of Ophthalmology, London, UK.
Ahmed M HagagDevelopment, Ageing and Disease, UCL Institute of Ophthalmology, London, UK; Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK; Boehringer Ingelheim Limited, Bracknell, UK.
Thomas BurgoyneDevelopment, Ageing and Disease, UCL Institute of Ophthalmology, London, UK.
Neelima NairDevelopment, Ageing and Disease, UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK.
Lasse D JensenDivision of Cardiovascular Medicine, Department of Medical and Health Sciences, Linköping University, Linköping, Sweden.
Malia M EdwardsThe Wilmer Eye Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Mariya MoosajeeDevelopment, Ageing and Disease, UCL Institute of Ophthalmology, London, UK; Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK; The Francis Crick Institute, London, UK. Electronic address: m.moosajee@ucl.ac.uk.
University College London · GBThe Francis Crick Institute · GBJohns Hopkins University · USLinköping University · SE

Funding

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

Abstract

Choroideremia (CHM) is a rare X-linked chorioretinal dystrophy affecting the photoreceptors, retinal pigment epithelium (RPE) and choroid, however, the involvement of the choroid in disease progression is not fully understood. CHM is caused by mutations in the CHM gene, encoding the ubiquitously expressed Rab escort protein 1 (REP1). REP1 plays an important role in intracellular trafficking of vesicles, including melanosomes. In this study, we examined the ultrastructure of the choroid in chm

Indexed as

ChoroideremiaAdaptor Proteins, Signal TransducingAgedAnimalsChoroidHumansMaleMelaninsMelanogenesisMiceMice, KnockoutAdaptor Proteins, Signal TransducingCHM protein, humanChm protein, mouseMelaninsChoroideremiaMelanogenesisOptical coherence tomographyTransmission electron microscopyVasculogenesis

Identifiers

PMID37989423
PMCPMC11157692
OpenAlexW4388830818

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.