Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

• Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

  PMID 17615541 · PMC2768756 · Molecular vision · 2007 · 8 claims · 4 setups

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  Eleven different RS1 mutations were identified in 12 Chinese XLRS families, including four novel mutations (26delT, 488delG, Asp145His, Arg156Gly).

  patients genomic xlrs eyes comprehensive pcr single-flash

• Dynamic transcriptomic remodeling in grafted human neural progenitor cells uncovers mechanisms for vision preservation in a rat model of retinitis pigmentosa.

  PMID 41792118 · PMC12966429 · Nature communications · 2026 · 8 claims · 7 setups

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  Grafted hNPCs primarily differentiate into an astroglial phenotype and mature over time in the degenerative retinal environment

  grafted rcs hnpcs single-cell electroretinography immunofluorescence

• Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

  PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups

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  Mutations in USH2A are responsible for most cases of USH2

  genomic family probands ush2a direct restriction single

• A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

  PMID 19956411 · PMC2786888 · Molecular vision · 2009 · 6 claims · 7 setups

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  A novel de novo heterozygous nonsense mutation (c.413C>G, p.S138X) in OTX2 causes an early onset retinal dystrophy accompanied by pituitary dysfunction (growth hormone deficiency)

  genomic anonymous single direct lca mismatch

• Spatiotemporal dynamics of ecto-5'-nucleotidase (CD73) in mouse retina under physiological conditions.

  PMID 41560519 · PMC12912271 · Development (Cambridge, England) · 2026 · 8 claims · 6 setups

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  CD73 expression in the neural retina is restricted to the rod-photoreceptor lineage and becomes robustly detectable from postnatal day (P) 3 onward, persisting into adulthood.

  cd73-bac-egfp cd73-creert2 scrna-seq cd73-knockout immunofluorescence genetic whole-mount

• Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.

  PMID 41746734 · PMC13043084 · JCI insight · 2026 · 8 claims · 8 setups

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  The dG-MYRF C-terminal frameshift variant undergoes normal homotrimerization, cleavage, and nuclear localization but shows reduced steady-state levels of the C-terminal cleavage product and decreased transcriptional activation of target genes.

  arpe-19 myrf rpe e17.5 immunofluorescence computational cycloheximide