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 review on the molecular diagnostics of Lynch syndrome: a central role for the pathology laboratory.

  PMID 19929944 · PMC3837620 · Journal of cellular and molecular medicine · 2010 · 8 claims · 7 setups

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  Lynch syndrome is caused by germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2

  colorectal tumour sporadic germline msi immunohistochemistry mlh1

• Identification of HNPCC by molecular analysis of colorectal and endometrial tumors.

  PMID 15528786 · PMC3839268 · Disease markers · 2004 · 8 claims · 5 setups

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  The Bethesda criteria, with a few modifications, are appropriate to identify families eligible for MMR mutation genetic testing

  colorectal endometrial microsatellite immunohistochemistry germline

• Prediction and assessment of splicing alterations: implications for clinical testing.

  PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups

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  Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification

  brca1 lymphocytes mammalian large bioinformatic cycloheximide mini-gene

• Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.

  PMID 15528792 · PMC3839397 · Disease markers · 2004 · 8 claims · 4 setups

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  The ICG-HNPCC/INSiGHT mutation database has grown from 126 predisposing mutations (1997) to 448 mutations occurring in 748 families (2003 update)

  hnpcc tumor yeast families germline microsatellite functional

• MSH6 missense mutations are often associated with no or low cancer susceptibility.

  PMID 15354210 · PMC2409912 · British journal of cancer · 2004 · 7 claims · 8 setups

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  Most MSH6 missense changes found in MSI-positive tumours are likely clinically innocent or of low cancer-susceptibility significance

  microdissected blood individuals paraffin-embedded microsatellite exon sscp

• Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

  PMID 14970868 · PMC2410159 · British journal of cancer · 2004 · 7 claims · 5 setups

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  A large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing despite its benefits.

  colorectal formalin-fixed germline first-degree microsatellite immunohistochemistry mutation

• Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.

  PMID 14735197 · PMC2409581 · British journal of cancer · 2004 · 8 claims · 8 setups

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  Kindred MON1080 carries germline truncating mutations in both MSH2 and BRCA2, with two family members being double heterozygotes

  colonic astrocytoma breast microdissected immunohistochemistry microsatellite truncation

• Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

  PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups

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  Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)

  peripheral genomic convalescent cdna genomic breakpoint-spanning

• Comparative analysis of cancer genes in the human and chimpanzee genomes.

  PMID 16438707 · PMC1382208 · BMC genomics · 2006 · 7 claims · 6 setups

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  All 333 examined human cancer genes have intact, highly conserved orthologs in the chimpanzee genome (99.38% protein identity).

  chimpanzee non-human cancer comparative pcr targeted

• The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.

  PMID 17031395 · PMC2360566 · British journal of cancer · 2006 · 8 claims · 8 setups

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  MYH-associated colorectal cancers can develop through either a chromosomal instability pathway or a microsatellite instability (MSI) pathway, contradicting the assumption that these are mutually exclusive.

  lymphocyte colorectal tumour msi-positive pcr restriction microsatellite