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).

• Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.

  PMID 18834580 · PMC2668603 · American journal of ophthalmology · 2009 · 6 claims · 4 setups

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  A positive response of macular cysts to dorzolamide can occur across all three known mechanisms of retinoschisin dysfunction (absent secretion, decreased expression, non-functional secretion).

  eyes blood-derived ebna xlrs optical genetic transfection

• A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

  PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

  at-risk eyes blood bbs7 clinical ophthalmologic genetic

• 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

• 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

• Novel mutations in GJA1 cause oculodentodigital syndrome.

  PMID 18946008 · PMC2588666 · Journal of dental research · 2008 · 8 claims · 3 setups

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  Heterozygous missense mutations in GJA1 were found in all analyzed ODD-affected individuals across ten unrelated families

  odd wild-type pups pcr immunofluorescence