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).

• Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.

  PMID 19890111 · PMC2787406 · The New England journal of medicine · 2009 · 8 claims · 8 setups

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  Homozygous loss-of-function mutations in IL10RA or IL10RB cause severe early-onset enterocolitis

  consanguineous patients ebv-transformed pbmcs genetic-linkage single-nucleotide-polymorphism candidate-gene

• Isoforms of U1-70k control subunit dynamics in the human spliceosomal U1 snRNP.

  PMID 19784376 · PMC2747018 · PloS one · 2009 · 8 claims · 8 setups

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  Native human U1 snRNP shows differential incorporation of four protein isoforms (U1-70k isoforms 1/2, Sm-B/B')

  native snrna intact denatured proteomic denaturing nucleic

• Nucleosome formation with the testis-specific histone H3 variant, H3t, by human nucleosome assembly proteins in vitro.

  PMID 18281699 · PMC2367731 · Nucleic acids research · 2008 · 8 claims · 7 setups

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  H3t/H4 forms nucleosomes with H2A/H2B via the salt-dialysis method, similar to conventional H3.1/H4

  recombinant reconstituted his6-tagged hnap1 salt-dialysis micrococcal chaperone-mediated

• Mutations of the Igbeta gene cause agammaglobulinemia in man.

  PMID 17709424 · PMC2118692 · The Journal of experimental medicine · 2007 · 6 claims · 5 setups

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  A homozygous nonsense mutation (Gln80X) in the Igβ (B29) gene causes agammaglobulinemia in a human patient

  genomic drosophila pbmcs sorted pcr transfection flow

• A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

  PMID 19864672 · PMC2793117 · The New England journal of medicine · 2009 · 7 claims · 7 setups

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  A homozygous CARD9 point mutation (Q295X, premature termination codon) is associated with autosomal recessive susceptibility to chronic mucocutaneous candidiasis.

  family patients peripheral-blood peripheral snp microsatellite sanger

• Genomic and epigenetic instability in colorectal cancer pathogenesis.

  PMID 18773902 · PMC2866182 · Gastroenterology · 2008 · 8 claims · 7 setups

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  Genomic instability (CIN or MSI) is a key early molecular step in colorectal tumorigenesis that may initiate rather than merely accompany the adenoma-carcinoma sequence

  colon embryonic colorectal inter immunohistochemistry karyotype

• A spectrum of severe familial liver disorders associate with telomerase mutations.

  PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups

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  Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.

  leukocyte leukocytes reconstitution liver sanger flow telomerase

• Characterization of a natural mutator variant of human DNA polymerase lambda which promotes chromosomal instability by compromising NHEJ.

  PMID 19806195 · PMC2751832 · PloS one · 2009 · 8 claims · 8 setups

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  The W438 hPolλ variant has reduced base substitution fidelity in vitro compared to wild-type R438

  normal recombinant hpolλ short pcr-sscp ber m13mp2