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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Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.
PMID 41653922 · PMC13034722 · Molecular cell · 2026 · 8 claims · 8 setups
Heterozygous de novo missense mutations in RING1 and RNF2 are found in individuals with neurodevelopmental/intellectual disability phenotypes
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SMARCB1 missense mutants disrupt SWI/SNF complex stability and remodeling activity.
PMID 41951591 · PMC13237135 · Nature communications · 2026 · 8 claims · 8 setups
RPT2 domain missense mutations disrupt SMARCB1 antiproliferative function by destabilizing the SWI/SNF complex and impairing chromatin remodeling and transcriptional regulation, comparable to nonsense mutations
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A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.
PMID 41484206 · PMC12905373 · EMBO molecular medicine · 2026 · 6 claims · 7 setups
INS R6C is a recessive loss-of-function mutation causing diabetes only in homozygous individuals, not a dominant mutation as previously classified.
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Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.
PMID 15528792 · PMC3839397 · Disease markers · 2004 · 8 claims · 4 setups
The ICG-HNPCC/INSiGHT mutation database has grown from 126 predisposing mutations (1997) to 448 mutations occurring in 748 families (2003 update)