Evidence map›Paper›PMID 39062732›Full record

ArticleGenes2024

Exonic Short Interspersed Nuclear Element Insertion in

Katherine Stanbury, Ellen C Schofield, Bryan McLaughlin, Oliver P Forman, Cathryn S Mellersh

Abstract read
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

5 authors.

Katherine StanburyCanine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK.ORCID 0009-0004-1867-1950
Ellen C SchofieldCanine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK.ORCID 0000-0003-0648-1418
Bryan McLaughlinCanine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK.
Oliver P FormanWisdom Panel, Mars Petcare (Science and Diagnostics Division), Freeby Lane, Waltham on the Wolds, Leicestershire LE14 4RS, UK.
Cathryn S MellershCanine Genetics Centre, Department of Veterinary Medicine, University of Cambridge, Cambridge CB3 0ES, UK.

Funding

Dogs Trust G109751Kennel Club Charitable Trust G109537
6 · The paper itself

Abstract

Progressive retinal atrophies (PRAs) are a genetically heterogeneous group of inherited eye diseases that affect over 100 breeds of dog. The initial clinical sign is visual impairment in scotopic conditions, as a consequence of rod photoreceptor cell degeneration. Photopic vision degeneration then follows, due to progression of the disease to the cone photoreceptors, and ultimately results in complete blindness. Two full-sibling English Shepherds were diagnosed with PRA at approximately 5 years old and tested clear of all published PRA genetic variants. This study sought to identify the novel PRA-associated variant segregating in the breed. We utilised a combined approach of whole genome sequencing of the probands and homozygosity mapping of four cases and 22 controls and identified a short interspersed nuclear element within an alternatively spliced exon in

Indexed as

Dog DiseasesExonsAnimalsDogsEye ProteinsFemaleGenes, RecessiveMaleMutagenesis, InsertionalPedigreeRetinal DegenerationShort Interspersed Nucleotide ElementsWhole Genome SequencingEye ProteinsdogsFAM161Ageneticshomozygosity mappinginherited eye diseaseprogressive retinal atrophyretinitis pigmentosaSINEwhole genome sequencing

Identifiers

PMID39062732
PMCPMC11275866

What Socratic 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 Socratic graph.