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).

• BRCA1 mutations in southern England.

  PMID 9649133 · PMC2150412 · British journal of cancer · 1998 · 7 claims · 4 setups

  Full-text index only

  Early age of onset combined with a strong family history is the most effective selection criterion for detecting BRCA1 mutations, more so than bilaterality alone

  genomic pcr clinical heteroduplex sequencing pcr

• Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

  PMID 18302728 · PMC2291454 · BMC medical genetics · 2008 · 8 claims · 8 setups

  Full-text index only

  Functional assays of TSC1–TSC2 complex activity can distinguish pathogenic TSC2 mutations from rare polymorphisms when multiple variants segregate in one family

  hek immunoprecipitated tsc2 peripheral coimmunoprecipitation rheb s6k-t389

• Rapid detection of SMARCB1 sequence variation using high resolution melting.

  PMID 20003390 · PMC2801682 · BMC cancer · 2009 · 8 claims · 6 setups

  Full-text index only

  HRM screening of SMARCB1 amplicons has a zero false negative rate compared to direct sequencing

  genomic same tumor rhabdoid high direct hrm

• p53 mutations in cervical carcinogenesis--low frequency and lack of correlation with human papillomavirus status.

  PMID 8142262 · PMC1968818 · British journal of cancer · 1994 · 7 claims · 6 setups

  Full-text index only

  Somatic mutation in the p53 gene hotspot regions occurs infrequently in cervical carcinomas

  cervical tumour paired hpv-positive immunocytochemistry pcr sequencing

• Mutations in NYX of individuals with high myopia, but without night blindness.

  PMID 17392683 · PMC2642916 · Molecular vision · 2007 · 7 claims · 5 setups

  Full-text index only

  Two novel NYX missense mutations (Cys48Trp and Arg191Gln) were found in unrelated males with high myopia but no night blindness.

  unrelated individuals high model direct sequencing electroretinogram

• Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas.

  PMID 9099956 · PMC2222800 · British journal of cancer · 1997 · 8 claims · 7 setups

  Full-text index only

  No sequence mutations were found in the MTHFR gene in ovarian tumors and cell lines despite extensive SSCP screening

  ovarian non-mucinous informative rt-pcr immunohistochemistry pcr-rflp

• Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

  PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups

  Full-text index only

  The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer

  breast tumour sscp exon-by-exon southern

• Variation in the E2-binding domain of HPV 16 is associated with high-grade squamous intraepithelial lesions of the cervix.

  PMID 11308254 · PMC2363853 · British journal of cancer · 2001 · 8 claims · 6 setups

  Full-text index only

  E2 gene disruption in the analysed regions is significantly more frequent in high-grade SILs than low-grade SILs

  paraffin-embedded hpv16-positive representative cervical pcr restriction bidirectional

• Engineered apoptotic nucleases for chromatin research.

  PMID 17626049 · PMC1935020 · Nucleic acids research · 2007 · 8 claims · 6 setups

  Full-text index only

  Inserting TEVP cleavage sites immediately downstream of the two caspase-3 sites in DFF45 (I1I2 mutant) makes DFF40 nuclease activity exclusively dependent on TEVP cleavage (DFF-T)

  recombinant cerevisiae coli western plasmid serial

• mtDNA nt13708A variant increases the risk of multiple sclerosis.

  PMID 18270557 · PMC2217590 · PloS one · 2008 · 8 claims · 5 setups

  Full-text index only

  The mtDNA nt13708 G/A polymorphism (nt13708A allele) is significantly associated with increased risk of MS (OR=1.71, P=0.0002) across three well-matched European cohorts.

  peripheral pooled mtdna snp meta-analysis complete