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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Expression in human prostate of drug- and carcinogen-metabolizing enzymes: association with prostate cancer risk.
PMID 9823980 · PMC2063181 · British journal of cancer · 1998 · 7 claims · 5 setups
CYP2D6, CYP3A, and an N-acetyltransferase enzyme activity are functionally expressed in human prostate tissue
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A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups
The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.
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Thirty years into the genomics era: tumor viruses led the way.
PMID 17940630 · PMC1994808 · The Yale journal of biology and medicine · 2006 · 8 claims · 8 setups
Restriction endonuclease-based analysis and sequencing of small tumor virus genomes (SV40, phiX174) established the technical framework later used to sequence bacterial and human genomes
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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.
PMID 16919418 · PMC2842930 · Genomics · 2006 · 8 claims · 8 setups
Human FXN YAC transgenes containing GAA repeat expansions (YG22, YG8) rescue the embryonic lethality of homozygous Fxn knockout mice
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.
PMID 10427478 · PMC3851081 · Disease markers · 1998 · 8 claims · 6 setups
E237G shows no significant association with atopy or asthma in the Swiss population (3.7% in patients vs 2.6% in controls)
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Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.
PMID 20011602 · PMC2788243 · PloS one · 2009 · 8 claims · 8 setups
A novel heterozygous Trp1197Stop (W1197X) mutation in the ACE gene causes a 13-fold increase in blood ACE activity in an African-American family
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Capturing genomic signatures of DNA sequence variation using a standard anonymous microarray platform.
PMID 17000641 · PMC1636412 · Nucleic acids research · 2006 · 8 claims · 6 setups
An anonymous SHyP oligonucleotide microarray can capture genomic signatures of DNA sequence variation from any organism, including a previously unsequenced species
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Intracellular sorting and targeting of melanosomal membrane proteins: identification of signals for sorting of the human brown locus protein, gp75.
PMID 7642699 · PMC2199968 · The Journal of cell biology · 1995 · 7 claims · 7 setups
The 36-amino acid cytoplasmic tail of gp75 alone is sufficient to direct intracellular retention and targeting of chimeric CD8 proteins to the endosomal/lysosomal compartment in fibroblasts