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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A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups
The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.
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Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.
PMID 16707008 · PMC1483898 · BMC cancer · 2006 · 6 claims · 4 setups
Somatic VHL gene alterations (LOH and mutation) may contribute to pathogenesis of MEN2A-associated MTC, similar to their role in MEN2 pheochromocytoma
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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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MSH6 missense mutations are often associated with no or low cancer susceptibility.
PMID 15354210 · PMC2409912 · British journal of cancer · 2004 · 7 claims · 8 setups
Most MSH6 missense changes found in MSI-positive tumours are likely clinically innocent or of low cancer-susceptibility significance
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Multiple K-ras mutations in hyperplasia and carcinoma in cases of human pancreatic carcinoma.
PMID 10543256 · PMC5926143 · Japanese journal of cancer research : Gann · 1999 · 7 claims · 6 setups
K-ras codon 12 mutations are present in the majority of solid-type (85%) and ductectatic-type (73%) pancreatic carcinomas.
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Correlation between KIT expression and KIT mutation in melanoma: a study of 173 cases with emphasis on the acral-lentiginous/mucosal type.
PMID 19718013 · PMC4120323 · Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2009 · 8 claims · 2 setups
Immunohistochemical KIT expression is significantly associated with KIT mutation status in acral lentiginous/mucosal melanoma
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A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.
PMID 18628483 · PMC2561321 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 6 claims · 7 setups
A novel heterozygous BRIP1 germline mutation (c.2992-2995delAAGA) was identified in a breast cancer patient, causing a frameshift and premature stop codon in exon 20.
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Mutational analyses of multiple target genes in histologically heterogeneous gastric cancer with microsatellite instability.
PMID 10081489 · PMC5921733 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 5 setups
MSI frequency in gastric cancers with histological heterogeneity was 35% (7/20 cases) and 28% (11/40 tumor DNAs), consistent with prior gastric cancer MSI studies.
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Homogeneous point mutation detection by quantum dot-mediated two-color fluorescence coincidence analysis.
PMID 16517937 · PMC1390686 · Nucleic acids research · 2006 · 8 claims · 6 setups
QD-mediated two-color fluorescence coincidence detection combined with oligonucleotide ligation assay (OLA) enables separation-free, homogeneous point mutation detection.
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Proteomics as a tool for biomarker discovery.
PMID 18057524 · PMC3851415 · Disease markers · 2007 · 8 claims · 7 setups
A useful clinical biomarker must be easily attainable, have adequate sensitivity, have adequate specificity, and lead to patient benefit through intervention
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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.