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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Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes.
PMID 18804399 · PMC2702757 · Parkinsonism & related disorders · 2009 · 6 claims · 4 setups
The same LRRK2 I2020T mutation can produce diverse neuropathologies (pure nigral degeneration, Lewy body pathology, or MSA-P) even when clinical presentation and PET findings are virtually identical across family members.
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Transcription dynamics.
PMID 19782025 · PMC6326382 · Molecular cell · 2009 · 8 claims · 8 setups
Transcription factors locate their sparse specific binding sites via a 3D scanning mechanism combining rapid nuclear diffusion with frequent, very transient (seconds-scale) nonspecific chromatin interactions.
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Progressive nonfluent aphasia associated with a new mutation V363I in tau gene.
PMID 17712160 · PMC10846119 · American journal of Alzheimer's disease and other dementias · 2007 · 7 claims · 5 setups
A novel heterozygous MAPT mutation (2274 G→A, exon 12, causing V363I) was identified in the proband, 2 of 3 tested children, and 1 sibling, but not in 194 healthy control individuals from the same population.
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Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.
PMID 18580586 · PMC2750842 · Alzheimer disease and associated disorders · 2008 · 8 claims · 8 setups
The PSEN1 N135S mutation causes EOFAD with an atypical phenotype including spastic dysarthria, limb spasticity, and seizures in addition to typical cognitive deficits
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Has reproduction · 61
A comprehensive resource of genomic, epigenomic and transcriptomic sequencing data for the black truffle Tuber melanosporum.
PMID 25392735 · PMC4228822 · GigaScience · 2014 · 8 claims · 8 setups
T. melanosporum shows a high rate of cytosine methylation (>44%) that selectively targets transposable elements rather than genes, with a strong preference for CpG sites.
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PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size.
PMID 16620382 · PMC1459209 · BMC bioinformatics · 2006 · 7 claims · 3 setups
PedGenie is a valid, flexible statistical tool for genetic association analysis in pedigrees of arbitrary size and structure using Monte Carlo significance testing