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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Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.
PMID 18680191 · PMC3708306 · American journal of medical genetics. Part A · 2008 · 8 claims · 3 setups
A novel heterozygous SCN1A frameshift mutation, c.3608delA (p.Gln1203HisfsX4), was identified in a postmortem SMEI patient, located in the D2-D3 intracellular linker of NaV1.1.
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Has reproduction · 78
Protocol for the generation of single-nuclei RNA-seq libraries and quantification of heterogeneous cell types activated during social interaction.
PMID 39423127 · PMC11532268 · STAR protocols · 2024 · 7 claims · 5 setups
A protocol for dissecting mouse PFC, hippocampus, and cerebellum and generating snRNA-seq libraries can identify neuronal populations activated during social interaction.
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Has reproduction · 91
Cell fixation and preservation for droplet-based single-cell transcriptomics.
PMID 28526029 · PMC5438562 · BMC biology · 2017 · 7 claims · 8 setups
Methanol fixation stabilizes and preserves dissociated cells for weeks without compromising single-cell RNA-seq data quality
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Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats.
PMID 17142224 · PMC1669776 · Nucleic acids research · 2006 · 8 claims · 8 setups
Pure (GAA·TTC)44+ alleles at the FXN locus are unstable in human somatic cells in vivo, showing both expansions and contractions.
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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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Positive selection for the male functionality of a co-retroposed gene in the hominoids.
PMID 19832993 · PMC2773790 · BMC evolutionary biology · 2009 · 8 claims · 8 setups
PIPSL is an extraordinary co-retroposed protein-coding gene that may participate in male-specific functions of humans and close relatives
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Has reproduction
Plexin B3 promotes neurite outgrowth, interacts homophilically, and interacts with Rin.
PMID 16122393 · PMC1215486 · BMC neuroscience · 2005 · 8 claims · 8 setups
Plexin B3 strongly and plexin B2 moderately stimulate neurite outgrowth of primary murine cerebellar neurons