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).
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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
PMID 16244706 · PMC1262189 · PLoS genetics · 2005 · 7 claims · 5 setups
Putative pathogenic RMRP mutations are located in highly conserved nucleotides across mammals, whereas polymorphisms are located in non-conserved positions.
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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
A homozygous CARD9 point mutation (Q295X, premature termination codon) is associated with autosomal recessive susceptibility to chronic mucocutaneous candidiasis.
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Inconsistencies in Neanderthal genomic DNA sequences.
PMID 17937503 · PMC2014787 · PLoS genetics · 2007 · 8 claims · 6 setups
The Noonan et al. and Green et al. Neanderthal nuclear DNA datasets yield mutually inconsistent estimates of population split time and Neanderthal admixture proportion when analyzed with the same method
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Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.
PMID 14735200 · PMC2409576 · British journal of cancer · 2004 · 8 claims · 2 setups
Seven germline INK4a-ARF changes (five novel) were found in 7 of 89 patients (8%) suspected of genetic predisposition to melanoma.
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Genome-wide analysis of the human Alu Yb-lineage.
PMID 15588477 · PMC3525081 · Human genomics · 2004 · 8 claims · 6 setups
1,733 Alu Yb-lineage elements are present on human autosomal chromosomes
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Introduction of in vitro transcribed ENO1 mRNA into neuroblastoma cells induces cell death.
PMID 16359544 · PMC1327688 · BMC cancer · 2005 · 8 claims · 6 setups
ENO1 has tumour suppressor activity
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Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli.
PMID 17012280 · PMC1636463 · Nucleic acids research · 2006 · 7 claims · 5 setups
DSBs induced at the TRS/vector junction (EcoRV site) generate numerous mutagenic events in flanking sequences, whereas DSBs within the repeat tract (EcoRI site) produce no such mutants
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Mutations in the C-terminus of the X protein of hepatitis B virus regulate Wnt-5a expression in hepatoma Huh7 cells: cDNA microarray and proteomic analyses.
PMID 18477650 · PMC2443277 · Carcinogenesis · 2008 · 8 claims · 7 setups
HBx C-terminal deletion mutants (HBx3'-30 and HBx3'-40) produce differentially expressed gene and protein profiles in transfected Huh7 HCC cells, mostly involving transcriptional regulation, oncogenes/tumor suppressors, cell junctions, signal transduction, metabolism and immune response