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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beta- Catenin mutations and aberrant nuclear expression during endometrial tumorigenesis.
PMID 11161379 · PMC2363713 · British journal of cancer · 2001 · 7 claims · 4 setups
Cell membrane β-catenin immunoreactivity shows a stepwise decrease from normal endometrium, through atypical hyperplasia, to grade 3 carcinoma.
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Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.
PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups
Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes
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Genetic changes of Wnt pathway genes are common events in metaplastic carcinomas of the breast.
PMID 18593979 · PMC3060761 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 6 setups
Aberrant β-catenin protein expression (nuclear/cytoplasmic accumulation or reduced membrane staining) is present in nearly all metaplastic breast carcinomas, indicating Wnt pathway deregulation.
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'Classical' but not 'other' mutations of EGFR kinase domain are associated with clinical outcome in gefitinib-treated patients with non-small cell lung cancer.
PMID 18000506 · PMC2360265 · British journal of cancer · 2007 · 8 claims · 4 setups
'Classical' EGFR mutations (exon 18 G719X, exon 19 DEL19, exon 21 L858R) are associated with better clinical outcome (disease control) with gefitinib
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups
TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI
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Systematic prediction of human membrane receptor interactions.
PMID 19798668 · PMC3076061 · Proteomics · 2009 · 7 claims · 6 setups
Predicting interactions specifically for membrane receptors, rather than deriving them from a general human interactome model, improves prediction performance for these proteins
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mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice.
PMID 19763141 · PMC2909846 · Journal of human genetics · 2009 · 8 claims · 8 setups
The G10398A cybrid shows slower proliferation and delayed cell cycle progression (G1 accumulation, decreased G2/M) compared to wild-type G10398 cybrid
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Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.
PMID 17298666 · PMC1805452 · BMC neurology · 2007 · 8 claims · 8 setups
Four unrelated NA patients show a novel erythrocyte membrane defect: 4.1R protein deficiency
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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups
All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix
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Analysis of human sarcospan as a candidate gene for CFEOM1.
PMID 11180757 · PMC29083 · BMC genetics · 2001 · 7 claims · 5 setups
Sarcospan sequence is unmutated in all six CFEOM1 families studied
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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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Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.
PMID 8879195 · PMC2192830 · The Journal of experimental medicine · 1996 · 6 claims · 8 setups
The patient is a compound heterozygote for a p67-phox gene mutation: an in-frame deletion of lysine 58 on one allele and an 11-13 kb genomic deletion on the other allele.
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Genomic sequence and analysis of a vaccinia virus isolate from a patient with a smallpox vaccine-related complication.
PMID 17062162 · PMC1635044 · Virology journal · 2006 · 8 claims · 6 setups
VACV-DUKE is most similar to VACV-ACAM2000 and VACV-CLONE3, confirming it as a Dryvax-derived isolate
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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.