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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TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.
PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups
A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.
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Has reproduction · 84
In vivo prime editing rescues alternating hemiplegia of childhood in mice.
PMID 40695277 · PMC12702498 · Cell · 2025 · 8 claims · 8 setups
PE and BE strategies efficiently correct five prevalent ATP1A3 mutations (D801N, E815K, L839P, G947R-A, G947R-C) in HEK293T cells and AHC patient-derived iPSCs, with 43%-90% correction in iPSCs.
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Identification of a dominant epitope of glutamic acid decarboxylase (GAD-65) recognized by autoantibodies in stiff-man syndrome.
PMID 8245784 · PMC2191306 · The Journal of experimental medicine · 1993 · 8 claims · 6 setups
All 30 SMS patient sera selectively recognize GAD-65, but not GAD-67, when tested by Western blotting on denatured GAD.
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HITS-CLIP yields genome-wide insights into brain alternative RNA processing.
PMID 18978773 · PMC2597294 · Nature · 2008 · 8 claims · 8 setups
HITS-CLIP, combining CLIP with high-throughput sequencing, provides a genome-wide, unbiased method to map protein-RNA interactions in vivo.
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Novel approaches for identifying target antigens of autoreactive human B and T cells.
PMID 19763575 · PMC2845891 · Seminars in immunopathology · 2009 · 8 claims · 8 setups
CD8+ T cells infiltrating MS brain and IM muscle tissue show clonal expansions consistent with antigen-driven selection
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Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.
PMID 18775783 · PMC2729512 · Molecular and cellular neurosciences · 2008 · 8 claims · 8 setups
Six 22q11 genes (Mrpl40, Prodh, Slc25a1, Txnrd2, T10, Zdhhc8) encode proteins that localize to mitochondria, including neuronal/synaptic mitochondria.
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Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.
PMID 18302774 · PMC2266716 · BMC medical genetics · 2008 · 8 claims · 4 setups
The SNF2L gene spans 77 kb and is encoded by 25 exons that undergo alternative splicing to generate multiple distinct transcripts.
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Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.
PMID 19698114 · PMC2749045 · BMC infectious diseases · 2009 · 8 claims · 7 setups
Three PRNP mutations—D178N, E200K, and M232R—were identified in heterozygosity in Korean probable CJD patients, marking their first report in this population.
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Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562.
PMID 19789318 · PMC2756455 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 8 setups
2q37 harbors a tumor suppressor gene important in Wilms tumor pathogenesis