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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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups
All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix
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Pathogenesis of vestibular schwannoma in ring chromosome 22.
PMID 19772601 · PMC2758865 · BMC medical genetics · 2009 · 8 claims · 7 setups
Tumours in ring chromosome 22 patients arise from the combination of loss of the ring chromosome (first hit) and a pathogenic somatic NF2 mutation on the remaining chromosome 22 (second hit)
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Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements.
PMID 20026586 · PMC2847243 · Nucleic acids research · 2010 · 8 claims · 5 setups
Telomere fusion in human cells is characterized by extensive sub-telomeric deletion of at least one telomere, extending up to 5.6-6.1 kb
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TccP2-mediated subversion of actin dynamics by EPEC 2 - a distinct evolutionary lineage of enteropathogenic Escherichia coli.
PMID 17526832 · PMC2884950 · Microbiology (Reading, England) · 2007 · 7 claims · 8 setups
tccP2 is present in 26 of 27 (96.2%) EPEC 2 lineage strains and absent from all 34 EPEC 1 strains tested
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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients
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Triplex targeted genomic crosslinks enter separable deletion and base substitution pathways.
PMID 16186129 · PMC1236719 · Nucleic acids research · 2005 · 8 claims · 4 setups
Targeted pso-TFO genomic crosslinks resolve via genetically separable pathways leading to either base substitutions or deletions.