ArticleScientific reports2017
Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes).
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 16 papers.
What it found
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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.
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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.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
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- Absence of 2899C<T Mutation in the WNK4 Gene in a Free-Ranging Lion (Animals : an open access journal from MDPI · 2022Article
- The Genetic Basis of Obesity and Related Metabolic Diseases in Humans and Companion Animals.Genes · 2020Review
- A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism.PLoS genetics · 2020Article
- Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon inG3 (Bethesda, Md.) · 2020Article
- Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.Progress in retinal and eye research · 2020Review
- Werewolf, There Wolf: Variants inGenes · 2020Article
- A Deletion inGenes · 2020Article
- Targeted genotyping by sequencing: a new way to genome profile the cat.Animal genetics · 2019Article
- Precision medicine validation: identifying theJournal of feline medicine and surgery · 2019Article
- Identification and quantification of domestic feline cytochrome P450 transcriptome across multiple tissues.Journal of veterinary pharmacology and therapeutics · 2019Article
- First genome-wide CNV mapping in FELIS CATUS using next generation sequencing data.BMC genomics · 2018Article
- Rescue of cone function in cone-onlyMolecular vision · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 20 institutions in 8 countries.
Funding
Abstract
African black-footed cats (Felis nigripes) are endangered wild felids. One male and full-sibling female African black-footed cat developed vision deficits and mydriasis as early as 3 months of age. The diagnosis of early-onset progressive retinal atrophy (PRA) was supported by reduced direct and consensual pupillary light reflexes, phenotypic presence of retinal degeneration, and a non-recordable electroretinogram with negligible amplitudes in both eyes. Whole genome sequencing, conducted on two unaffected parents and one affected offspring was compared to a variant database from 51 domestic cats and a Pallas cat, revealed 50 candidate variants that segregated concordantly with the PRA phenotype. Testing in additional affected cats confirmed that cats homozygous for a 2 base pair (bp) deletion within IQ calmodulin-binding motif-containing protein-1 (IQCB1), the gene that encodes for nephrocystin-5 (NPHP5), had vision loss. The variant segregated concordantly in other related individuals within the pedigree supporting the identification of a recessively inherited early-onset feline PRA. Analysis of the black-footed cat studbook suggests additional captive cats are at risk. Genetic testing for IQCB1 and avoidance of matings between carriers should be added to the species survival plan for captive management.
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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.