ArticleGenes2019
Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes
Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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.
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.
Who cites it
10 citing papers in PubMed, 10 citations in OpenAlex.
- NECAP antagonizes light-induced Rhodopsin-1 internalization to promote photoreceptor homeostasis.bioRxiv : the preprint server for biology · 2026Article
- PCR-based detection of hereditary mutations inJournal of veterinary science · 2025Article
- Dogs help tease apart important differences in gene expression of brain tumours.Companion animal health and genetics · 2025Article
- The Association between the Abundance of Homozygous Deleterious Variants and the Morbidity of Dog Breeds.Biology · 2024Article
- Large-scale genomic analysis of the domestic dog informs biological discovery.Genome research · 2024Review
- Copy number variation underlies complex phenotypes in domestic dog breeds and other canids.Genome research · 2021Article
- Identification of a variant in NDP associated with X-linked retinal dysplasia in the English cocker spaniel dog.PloS one · 2021Article
- A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.BMC genetics · 2020Article
- A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.Animal genetics · 2019Article
- AGenes · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Canine progressive retinal atrophies (PRA) are genetically heterogeneous diseases characterized by retinal degeneration and subsequent blindness. PRAs are untreatable and affect multiple dog breeds, significantly impacting welfare. Three out of seven Giant Schnauzer (GS) littermates presented with PRA around four years of age. We sought to identify the causal variant to improve our understanding of the aetiology of this form of PRA and to enable development of a DNA test. Whole genome sequencing of two PRA-affected full-siblings and both unaffected parents was performed. Variants were filtered based on those segregating appropriately for an autosomal recessive disorder and predicted to be deleterious. Successive filtering against 568 canine genomes identified a single nucleotide variant in the gene encoding NECAP endocytosis associated 1 (
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.