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 STAT1 alleles in otherwise healthy patients with mycobacterial disease.
PMID 16934001 · PMC1550284 · PLoS genetics · 2006 · 7 claims · 6 setups
The E320Q, Q463H, and L706S STAT1 alleles are intrinsically deleterious for both IFNG/GAF-mediated and IFNA/ISGF3-mediated immunity when tested in STAT1-deficient transfected cells
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Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.
PMID 11870543 · PMC2375272 · British journal of cancer · 2002 · 8 claims · 5 setups
DFFA is localized within the 1p36.2-3 smallest region of overlap (SRO) of deletions defined in Scandinavian neuroblastoma tumours, distal to marker D1S244
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Investigations on a clinically and functionally unusual and novel germline p53 mutation.
PMID 12085209 · PMC2746598 · British journal of cancer · 2002 · 8 claims · 7 setups
A novel germline 7 base pair insertion in exon 5 of p53 (causing frameshift from codon 161 with a stop at codon 182) was identified in a patient with osteosarcoma at age 22 and choroid plexus papilloma at age 29.
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Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
PMID 18157127 · PMC2397541 · Nature genetics · 2008 · 8 claims · 8 setups
Homozygous truncating mutations in PCNT cause Seckel syndrome
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Impact of RTS,S/AS02(A) and RTS,S/AS01(B) on genotypes of P. falciparum in adults participating in a malaria vaccine clinical trial.
PMID 19924281 · PMC2773849 · PloS one · 2009 · 7 claims · 4 setups
Both RTS,S/AS02A and RTS,S/AS01B vaccines reduce multiplicity of infection (MOI) of breakthrough P. falciparum infections
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.
PMID 16417627 · PMC1382246 · BMC genetics · 2006 · 8 claims · 7 setups
Heterozygous truncating BRCA2 mutations occur in 47% (7/15) of gastrointestinal MSI cancer cell lines/xenografts, a higher rate than previously reported
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Genetic microheterogeneity and phenotypic variation of Helicobacter pylori arginase in clinical isolates.
PMID 17408487 · PMC1853099 · BMC microbiology · 2007 · 8 claims · 8 setups
Arginase activity varies more than 100-fold among H. pylori clinical isolates and laboratory-adapted strains
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Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.
PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups
Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients
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Has reproduction · 57
Genome-wide kinetic properties of transcriptional bursting in mouse embryonic stem cells.
PMID 32596448 · PMC7299619 · Science advances · 2020 · 8 claims · 8 setups
Genome-wide transcriptional bursting kinetics (intrinsic noise, burst size, frequency) can be estimated from allele-specific scRNA-seq of hybrid mESCs
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A novel approach to tag and identify geranylgeranylated proteins.
PMID 19784953 · PMC2855049 · Electrophoresis · 2009 · 7 claims · 7 setups
Metabolic incorporation of azido-GG alcohol followed by Cu(I)-catalyzed click reaction with TAMRA-alkyne selectively labels geranylgeranylated proteins for fluorescence detection