ArticleNature communications2014
SLC7A14 linked to autosomal recessive retinitis pigmentosa.
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 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
57 citing papers in PubMed, 100 citations in OpenAlex.
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- TPM1 drives cytoskeleton-immunometabolism coupling and LGALS9/CD45-mediated neuroinflammatory propagation in retinitis pigmentosa.Science advances · 2026Article
- Associations between RetNet gene polymorphisms and the efficacy of orthokeratology for myopia control: a retrospective clinical study.Eye and vision (London, England) · 2025Article
- In situ architecture of the intercellular organelle reservoir between epididymal epithelial cells by volume electron microscopy.Nature communications · 2025Article
- Hypothalamic SLC7A14 accounts for aging-reduced lipolysis in white adipose tissue of male mice.Nature communications · 2024Article
- Article
- Exome-wide association study identifies KDELR3 mutations in extreme myopia.Nature communications · 2024Article
- Genetic Signatures of Positive Selection in Human Populations Adapted to High Altitude in Papua New Guinea.Genome biology and evolution · 2024Article
- Molecular Specializations Underlying Phenotypic Differences in Inner Ear Hair Cells of Zebrafish and Mice.bioRxiv : the preprint server for biology · 2024Article
- Molecular specializations underlying phenotypic differences in inner ear hair cells of zebrafish and mice.Frontiers in neurology · 2024Article
- The Effects of Nitric Oxide on Choroidal Gene Expression.Journal of bioinformatics and systems biology : Open access · 2024Article
- Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.Genetics in medicine open · 2024Article
- Research progress on the role of cationic amino acid transporter (CAT) family members in malignant tumors and immune microenvironment.Amino acids · 2023Review
- Somatic Mutation ofArchives of Iranian medicine · 2023Article
- Retinitis Pigmentosa: Novel Therapeutic Targets and Drug Development.Pharmaceutics · 2023Review
- The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision.Nature communications · 2022Article
- Population genomics of an icefish reveals mechanisms of glacier-driven adaptive radiation in Antarctic notothenioids.BMC biology · 2022Article
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.Science advances · 2022Article
- Retinal organoids as models for development and diseases.Cell regeneration (London, England) · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinitis pigmentosa (RP) is characterized by degeneration of the retinal photoreceptors and is the leading cause of inherited blindness worldwide. Although few genes are known to cause autosomal recessive RP (arRP), a large proportion of disease-causing genes remain to be revealed. Here we report the identification of SLC7A14, a potential cationic transporter, as a novel gene linked to arRP. Using exome sequencing and direct screening of 248 unrelated patients with arRP, we find that mutations in the SLC7A14 gene account for 2% of cases of arRP. We further demonstrate that SLC7A14 is specifically expressed in the photoreceptor layer of the mammalian retina and its expression increases during postnatal retinal development. In zebrafish, downregulation of slc7a14 expression leads to an abnormal eye phenotype and defective light-induced locomotor response. Furthermore, targeted knockout of Slc7a14 in mice results in retinal degeneration with abnormal ERG response. This suggests that SLC7A14 has an important role in retinal development and visual function.
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.