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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Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
PMID 18489799 · PMC2413254 · BMC cancer · 2008 · 8 claims · 6 setups
Pathogenic BRCA1/BRCA2 mutations were identified in 294 of 1,010 (29.1%) unrelated high-risk Czech probands
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A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
PMID 18334966 · PMC2268715 · Molecular vision · 2008 · 7 claims · 5 setups
A novel 827C>T transition in GJA8 causes a serine-to-phenylalanine substitution (S276F) associated with dominant congenital pulverulent nuclear cataract in this Chinese family.
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Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups
A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family
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A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups
A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family
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Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium.
PMID 20044523 · PMC2923092 · Stroke · 2010 · 8 claims · 6 setups
SNP rs2208454 in intron 3 of MACROD2 (near FLRT3, chr20p12) is associated with lower risk of covert MRI-infarcts (OR=0.76, p=4.64x10-7)
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Genome analysis of multi- and extensively-drug-resistant tuberculosis from KwaZulu-Natal, South Africa.
PMID 19890396 · PMC2767505 · PloS one · 2009 · 8 claims · 4 setups
Rifampicin resistance (rpoB) and pyrazinamide resistance (pncA) mutations occur at different nucleotide positions in the MDR and XDR strains, showing they were acquired independently and that the XDR strain did not evolve directly from this MDR strain.
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Isolated eyelid closure myotonia in two families with sodium channel myotonia.
PMID 19876661 · PMC2854355 · Neurogenetics · 2010 · 6 claims · 5 setups
The L250P mutation in SCN4A is associated with a strictly isolated eyelid closure myotonia phenotype
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Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups
NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations
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A proteomic strategy to identify novel serum biomarkers for liver cirrhosis and hepatocellular cancer in individuals with fatty liver disease.
PMID 19656391 · PMC2729079 · BMC cancer · 2009 · 8 claims · 4 setups
2D gel proteomic profiling of immunodepleted serum reveals protein spot patterns that differentiate pre-cirrhotic NAFLD, cirrhotic NAFLD, and cirrhotic NAFLD with HCC
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Mutation analysis of the WT1 gene in myelodysplastic syndromes.
PMID 9765617 · PMC5921914 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 3 setups
WT1 mutations are uncommon overall in MDS
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Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families.
PMID 10755399 · PMC2374482 · British journal of cancer · 2000 · 8 claims · 3 setups
Only 25% (8/32) of the Spanish breast/ovarian cancer families carried a BRCA1 or BRCA2 mutation
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Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population.
PMID 18682812 · PMC2493029 · Molecular vision · 2008 · 7 claims · 3 setups
CFH Y402H (rs1061170) variant is not associated with exudative AMD in this northern Chinese cohort
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Risk of pancreatic cancer in families with Lynch syndrome.
PMID 19861671 · PMC4091624 · JAMA · 2009 · 7 claims · 3 setups
Families with germline MMR gene mutations (Lynch Syndrome) have an 8.6-fold increased risk of pancreatic cancer compared to the general U.S. population.
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SUPERFAMILY--sophisticated comparative genomics, data mining, visualization and phylogeny.
PMID 19036790 · PMC2686452 · Nucleic acids research · 2009 · 7 claims · 6 setups
SUPERFAMILY provides structural, functional and evolutionary annotation for proteins from all completely sequenced genomes using SCOP-based hidden Markov models
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GenBank.
PMID 18940867 · PMC2686462 · Nucleic acids research · 2009 · 8 claims · 4 setups
GenBank is a comprehensive public database of nucleotide sequences with bibliographic and biological annotation, growing exponentially with a current doubling time of ~30 months.
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Has reproduction
The indirect effect of mRNA-based COVID-19 vaccination on healthcare workers' unvaccinated household members.
PMID 35246536 · PMC8897446 · Nature communications · 2022 · 8 claims · 6 setups
mRNA-based COVID-19 vaccination is associated with reduced SARS-CoV-2 infections not only in vaccinated healthcare workers but also in their unvaccinated adult household members (indirect effectiveness).
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Has reproduction · 37
RNA Editing Alterations Define Disease Manifestations in the Progression of Experimental Autoimmune Encephalomyelitis (EAE).
PMID 36429012 · PMC9688714 · Cells · 2022 · 7 claims · 7 setups
RNA-editing events mediated by APOBEC and ADAR deaminases are significantly reduced throughout the course of EAE disease progression
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Including microbiome information in a multi-trait genomic evaluation: a case study on longitudinal growth performance in beef cattle.
PMID 38491422 · PMC10943865 · Genetics, selection, evolution : GSE · 2024 · 8 claims · 5 setups
The host genome's influence on the functional rumen microbiome contributes to temporal variation in average daily gain (ADG1-ADG4) across finishing months in beef cattle.
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Has reproduction · 84
Improving recombinant protein production by yeast through genome-scale modeling using proteome constraints.
PMID 35624178 · PMC9142503 · Nature communications · 2022 · 7 claims · 5 setups
pcSecYeast, a proteome-constrained genome-scale model integrating metabolism, translation, and detailed secretory pathway processing (translocation, PTMs, folding, misfolding, degradation), was constructed for S. cerevisiae
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p53 expression and its relationship to DNA alterations in bone and soft tissue sarcomas.
PMID 8260365 · PMC1968651 · British journal of cancer · 1993 · 8 claims · 6 setups
25.7% (29/113) of bone and soft tissue sarcomas show positive p53 immunostaining