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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Identification of common genetic variation that modulates alternative splicing.
PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups
Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes
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Has reproduction · 93
Protocol for assessing regulatory elements in murine heart using an AAV9-based massively parallel reporter assay.
PMID 40252222 · PMC12033988 · STAR protocols · 2025 · 8 claims · 5 setups
An AAV9-based in vivo MPRA (AAV-MPRA) workflow, combined with a companion informatics platform, can dissect and quantify enhancer activity in mouse heart.
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Mutations in the focal adhesion targeting region of deleted in liver cancer-1 attenuate their expression and function.
PMID 18829524 · PMC2597479 · Cancer research · 2008 · 8 claims · 6 setups
The DLC-1 fragment spanning residues 201-500 is sufficient for focal adhesion targeting (FAT region)
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Has reproduction · 63
A methyl-sensitive element induces bidirectional transcription in TATA-less CpG island-associated promoters.
PMID 30332484 · PMC6192621 · PloS one · 2018 · 7 claims · 8 setups
The CGCG element (consensus TCTCGCGAGA) is a conserved 10-bp motif enriched in TATA-less, CpG island-associated promoters of ribosomal protein and housekeeping genes.
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Has reproduction · 54
A 14-bp motif in the KIT active promoter region is critical for melanin accumulation in yaks, mice, and humans.
PMID 40629379 · PMC12239316 · BMC biology · 2025 · 8 claims · 7 setups
A 14-bp deletion in the KIT gene promoter region is associated with the all-white phenotype in yaks, identified via GWAS
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Biased exon/intron distribution of cryptic and de novo 3' splice sites.
PMID 16141195 · PMC1197134 · Nucleic acids research · 2005 · 7 claims · 5 setups
Cryptic 3'ss (from 3'YAG consensus mutations) are significantly more frequent in exons than in introns
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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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Has reproduction · 90
Dynamic interaction of MYC enhancer RNA with YEATS2 protein regulates MYC gene transcription in pancreatic cancer.
PMID 40216980 · PMC12117045 · EMBO reports · 2025 · 8 claims · 11 setups
MYC eRNAs (notably MYC-490-kb) are transcribed from the MYC super-enhancer and are upregulated by chronic TNF-α stimulation specifically in pancreatic cancer cells, not normal pancreatic epithelial cells
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Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
PMID 18626973 · PMC2570015 · Annals of neurology · 2008 · 8 claims · 8 setups
Clinical features of Dok-7 myasthenia are highly variable, ranging from mild static limb-girdle weakness to severe generalized progressive disease