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).

• A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.

  PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.

  genomic pax6 direct microsatellite blast

• Identification of transcription start sites and preferential expression of select CB2 transcripts in mouse and human B lymphocytes.

  PMID 19757078 · PMC2843092 · Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2009 · 7 claims · 8 setups

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  Human B cells express one CB2 transcript while mouse B cells express three CB2 transcripts

  splenocytes pbmc-derived splenic genbank race pcr quantitative

• A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

  PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

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  A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

  family peripheral patients microsatellite pcr clinical

• An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

  PMID 18615206 · PMC2443752 · Molecular vision · 2008 · 7 claims · 2 setups

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  A heterozygous R124C (C417T) mutation in TGFBI was detected in all affected individuals across three unrelated Chinese pedigrees with LCD I.

  patients genomic slit pcr