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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Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.
PMID 19826477 · PMC2757721 · PloS one · 2009 · 8 claims · 8 setups
Homozygous mutations of oncogenes are frequent (20%) across 833 cancer cell lines of 12 tumor types in the Sanger database
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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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Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups
A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination
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Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis.
PMID 17587445 · PMC1913537 · BMC genetics · 2007 · 6 claims · 4 setups
CCR7 gene variants occur at extremely low frequency (allelic frequencies ≤5%) in the German population
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Targeted KRAS mutation assessment on patient tumor histologic material in real time diagnostics.
PMID 19888477 · PMC2768905 · PloS one · 2009 · 8 claims · 5 setups
Q-PCR methods yield informative KRAS mutation results even on very fragmented FFPE-DNA where dideoxy-sequencing fails (p<0.0001)
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Genetic requirement for pneumococcal ear infection.
PMID 18670623 · PMC2593789 · PloS one · 2007 · 7 claims · 8 setups
STM screening of 5,280 S. pneumoniae ST556 mutants in a chinchilla middle ear infection model identified 169 genes required for ear infection
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Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.
PMID 7669582 · PMC2033876 · British journal of cancer · 1995 · 8 claims · 5 setups
A novel missense mutation (TGG→CGG, Trp133→Arg) in nm23-H2 was found in one stage III serous ovarian carcinoma
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Functional role of the KLF6 tumour suppressor gene in gastric cancer.
PMID 19101139 · PMC2970616 · European journal of cancer (Oxford, England : 1990) · 2009 · 7 claims · 8 setups
The KLF6 locus undergoes loss of heterozygosity (LOH) in a majority of gastric cancer samples and is associated with advanced tumour stage
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CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.
PMID 18725978 · PMC2518116 · PloS one · 2008 · 7 claims · 6 setups
TP53 mutations, especially those affecting the L2/L3 DNA-binding domains, are associated with resistance (progressive disease) to epirubicin therapy
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Steps toward broad-spectrum therapeutics: discovering virulence-associated genes present in diverse human pathogens.
PMID 19874620 · PMC2774872 · BMC genomics · 2009 · 8 claims · 8 setups
Phylogenetic profiling of protein clusters across pathogen and non-pathogen genomes can identify candidate generic virulence factors
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Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.
PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups
BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant
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Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.
PMID 14970870 · PMC3215949 · British journal of cancer · 2004 · 8 claims · 7 setups
Nuclear β-catenin expression in GEJ adenocarcinoma cell lines correlates with enhanced TCF-mediated reporter gene transcription
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Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.
PMID 19096718 · PMC2603445 · Molecular vision · 2008 · 7 claims · 5 setups
CYP1B1 mutations are implicated in POAG among Iranians, notably in the juvenile-onset form
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Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
PMID 18776955 · PMC2530518 · Molecular vision · 2008 · 7 claims · 4 setups
Two novel MYOC mutations, Pro13Leu (38C→T) and Gln337Stop (1009C del), are likely responsible for POAG pathogenesis in this pedigree
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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.