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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What have we learned from the congenital myasthenic syndromes.
PMID 19688192 · PMC3050586 · Journal of molecular neuroscience : MN · 2010 · 8 claims · 8 setups
CMS have been traced to mutations in at least 11 disease genes encoding proteins at the neuromuscular junction
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Homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, alpha cell hyperplasia, and islet cell tumor.
PMID 19657311 · PMC2767399 · Pancreas · 2009 · 8 claims · 6 setups
A homozygous P86S mutation in GCGR is associated with hyperglucagonemia and α cell hyperplasia in the patient
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Has reproduction · 100
Betacoronavirus-specific alternate splicing.
PMID 35074468 · PMC8782732 · Genomics · 2022 · 8 claims · 8 setups
Genes differentially spliced during SARS-CoV-2 infection show a similar functional (GO) profile to those differentially spliced in SARS-CoV and MERS infection, affecting a diverse set of genes tied to virus biology.
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A combined approach exploring gene function based on worm-human orthology.
PMID 15877817 · PMC1112593 · BMC genomics · 2005 · 8 claims · 6 setups
Strict phylogenetic criteria (concordant Neighbor Joining and Maximum Parsimony tree topology) can select single most-likely human orthologs for C. elegans genes despite the large phylogenetic distance between worm and human sequences.
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Identification of functional SNPs in the 5-prime flanking sequences of human genes.
PMID 15717931 · PMC550646 · BMC genomics · 2005 · 6 claims · 5 setups
7 of 10 candidate SNPs tested by EMSA showed reproducible allele-specific differences in TF-DNA complex binding/stability
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Structural genomics and drug discovery.
PMID 17488474 · PMC3822824 · Journal of cellular and molecular medicine · 2007 · 8 claims · 8 setups
Membrane proteins represent ~70% of current drug targets but only just over 100 high-resolution structures exist for them, versus >30,000 total structures in public databases dominated by soluble proteins.
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A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.
PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups
A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.
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Non-imprinted allele-specific DNA methylation on human autosomes.
PMID 19958531 · PMC2812945 · Genome biology · 2009 · 8 claims · 7 setups
SNPs within CpG islands are associated with allele-specific DNA methylation differences between alleles.
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DBTSS provides a tissue specific dynamic view of Transcription Start Sites.
PMID 19910371 · PMC2808897 · Nucleic acids research · 2010 · 8 claims · 8 setups
DBTSS update adds ~330 million new TSS Seq tags from 31 different human/mouse cell types or culture conditions.
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Transcriptional and proteomic profiling in a cellular model of DYT1 dystonia.
PMID 19665049 · PMC2774817 · Neuroscience · 2009 · 8 claims · 7 setups
Accumulation of mutant torsinA(ΔE) in the nuclear envelope is not sufficient to cause transcriptional dysregulation
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Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
PMID 19649643 · PMC3104467 · Acta neuropathologica · 2010 · 8 claims · 8 setups
GRN transcript haploinsufficiency, previously shown in blood-derived cells, does not hold in most brain regions of GRN mutation carriers
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Identification and characterisation of the angiotensin converting enzyme-3 (ACE3) gene: a novel mammalian homologue of ACE.
PMID 17597519 · PMC1925091 · BMC genomics · 2007 · 7 claims · 7 setups
A novel single-domain ACE-like gene, ACE3, exists in mouse, rat, cow, dog and human genomes, located on the same chromosome downstream of ACE.
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Phosphorylation of SF3B1 by CDK11 orchestrates spliceosome activation via SNIP1-dependent RES complex recruitment.
PMID 41904131 · PMC13194972 · Nature communications · 2026 · 8 claims · 7 setups
CDK11 inhibitor OTS964 traps the spliceosome in a previously uncharacterized intermediate (B_OTS964) that has the NTR complex integrated but the NTC complex not yet associated.