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).

• Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

  PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups

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  The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD

  genomic same pooled pcr-rflp pcr-based cross-tabulation

• Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

  PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups

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  Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy

  blood cos-1 bacteria mitochondria sequencing cell-based recombinant

• Coxiella burnetii genotyping.

  PMID 16102309 · PMC3320512 · Emerging infectious diseases · 2005 · 8 claims · 5 setups

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  Multispacer sequence typing (MST) is the first reliable method for typing Coxiella burnetii isolates

  coxiella burnetii matrix sequence pcr molecular pcr-based

• In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.

  PMID 17201911 · PMC1774567 · BMC genomics · 2007 · 8 claims · 5 setups

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  A computational EST-based pipeline can identify UTR-SNPs that are statistically over-represented in cancerous versus normal tissue libraries

  est acute 100-nt whole-genome est-based pcr-based secondary

• Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

  PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups

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  R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity

  polarized mdck mdck-cftr patients confocal surface western

• From Pasteur to genomics: progress and challenges in infectious diseases.

  PMID 15516917 · PMC7096024 · Nature medicine · 2004 · 8 claims · 8 setups

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  Genomic sequencing has revealed the blueprint of most pathogens, enabling new diagnostics, therapeutics and vaccines including for previously uncultivable agents.

  bacterial neisseria sars hiv-infected whole-genome reverse nucleic