ArticleCell reports2018
Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease.
Article in Cell reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed, 16 citations in OpenAlex.
- Consensus guidelines for nomenclature of companion animal inherited retinal disorders.Veterinary ophthalmology · 2025Article
- The DoGA consortium expression atlas of promoters and genes in 100 canine tissues.Nature communications · 2024Article
- A naturally occurring canine model of syndromic congenital microphthalmia.G3 (Bethesda, Md.) · 2024Article
- Manifestations of systemic disease in the retina and fundus of cats and dogs.Frontiers in veterinary science · 2024Review
- Role of carotenoids and retinoids during heart development.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2020Review
- Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs.PLoS genetics · 2020Article
- The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.Frontiers in cellular neuroscience · 2020Article
- A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves.Animal genetics · 2019Article
- Genetic architecture of retinoic-acid signaling-associated ocular developmental defects.Human genetics · 2019Review
- Recent insights on the role and regulation of retinoic acid signaling during epicardial development.Genesis (New York, N.Y. : 2000) · 2019Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues, including the placenta and developing eye, where it is required to synthesize retinoic acid. Gestational vitamin A deficiency is a known risk factor for ocular birth defects. The K12del mutation disrupts RBP folding in vivo, decreasing its secretion from hepatocytes to serum. The maternal penetrance effect arises from an impairment in the sequential transfer of retinol across the placenta, via RBP encoded by maternal and fetal genomes. Our results demonstrate a mode of recessive maternal inheritance, with a physiological basis, and they extend previous observations on dominant-negative RBP4 alleles in humans.
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.