ArticleHuman molecular genetics2018
Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks.
Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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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
40 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.BMC medical genomics · 2020Pooled it
- The Transcription Factor 12 of Basic Helix-Loop-Helix Plays an Essential Role in Retinal Health.Investigative ophthalmology & visual science · 2026Article
- A mutation inMolecular vision · 2026Article
- Mendelian randomization study implicates inflammaging biomarkers in retinal vasculature, cardiovascular diseases, and longevity.Science advances · 2025Article
- Variants in NR6A1 cause a novel oculo vertebral renal syndrome.Nature communications · 2025Article
- Myelin regulatory factor (MYRF) is a critical early regulator of retinal pigment epithelial development.PLoS genetics · 2025Article
- Identification of coexisting Mfrprd6 and Pde6brd10 mutations causing spontaneous retinal detachment in commercially available rd6 mice.PloS one · 2025Article
- IGFBP5 as a Novel Basolateral Secretion Marker in the Retinal Pigment Epithelium.Advances in experimental medicine and biology · 2025Article
- HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells.Disease models & mechanisms · 2024Article
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- E3 ubiquitin ligase Herc3 deficiency leads to accumulation of subretinal microglia and retinal neurodegeneration.Scientific reports · 2024Article
- Platelet-activating factor receptor (PAFR) regulates neuronal maturation and synaptic transmission during postnatal retinal development.Frontiers in cellular neuroscience · 2024Article
- Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion.bioRxiv : the preprint server for biology · 2023Article
- Article
- PDGF-D-induced immunoproteasome activation and cell-cell interactions.Computational and structural biotechnology journal · 2023Article
- Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length.Experimental eye research · 2023Article
- Vision-related convergent gene losses revealeLife · 2022Article
- Eyes on CHARGE syndrome: Roles of CHD7 in ocular development.Frontiers in cell and developmental biology · 2022Review
- Molecular characteristics and spatial distribution of adult human corneal cell subtypes.Scientific reports · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
The human eye is built from several specialized tissues which direct, capture and pre-process information to provide vision. The gene expression of the different eye tissues has been extensively profiled with RNA-seq across numerous studies. Large consortium projects have also used RNA-seq to study gene expression patterning across many different human tissues, minus the eye. There has not been an integrated study of expression patterns from multiple eye tissues compared with other human body tissues. We have collated all publicly available healthy human eye RNA-seq datasets as well as dozens of other tissues. We use this fully integrated dataset to probe the biological processes and pan expression relationships between the cornea, retina, retinal pigment epithelium (RPE)-choroid complex, and the rest of the human tissues with differential expression, clustering and gene ontology term enrichment tools. We also leverage our large collection of retina and RPE-choroid tissues to build the first human weighted gene correlation networks and use them to highlight known biological pathways and eye gene disease enrichment. We also have integrated publicly available single-cell RNA-seq data from mouse retina into our framework for validation and discovery. Finally, we make all these data, analyses and visualizations available via a powerful interactive web application (https://eyeintegration.nei.nih.gov/).
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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.