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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c-Ki-ras mutations in colorectal adenocarcinomas from a country with a rapidly changing colorectal cancer incidence.
PMID 10496348 · PMC2362864 · British journal of cancer · 1999 · 7 claims · 4 setups
c-Ki-ras codon 12/13 mutations were found in 28% (14/50) of contemporary (1994-1996) colorectal adenocarcinomas but 0% (0/18) of archival (1962-1966) tumours
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Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations.
PMID 18694524 · PMC2525636 · BMC biotechnology · 2008 · 8 claims · 4 setups
The mismatch-specific endonuclease method achieved 100% sensitivity and specificity for identifying HBB gene mutations in the study sample.
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Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.
PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups
CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.
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Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.
PMID 1694220 · PMC2188166 · The Journal of experimental medicine · 1990 · 8 claims · 8 setups
Patient 14 (moderate phenotype) carries a C-to-T substitution at nucleotide 517 of the beta subunit cDNA, changing amino acid 149 from leucine to proline
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APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.
PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups
Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.
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Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons.
PMID 11207042 · PMC2363770 · British journal of cancer · 2001 · 8 claims · 4 setups
FAMA using large bifluorescent amplicons (avg 1.2 kb) with chemical cleavage of mismatch, combined with DGGE for 9 small exons, allows sensitive, unbiased scanning of the entire BRCA2 coding sequence with few amplicons (15 FAMA + 9 DGGE)
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Switching base preferences of mismatch cleavage in endonuclease V: an improved method for scanning point mutations.
PMID 17130153 · PMC1702505 · Nucleic acids research · 2007 · 8 claims · 4 setups
A single Y80A alanine substitution switches Tma endo V from purine-preferring to essentially C-specific mismatch cleavage, including the previously refractory C/C mismatch.
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High-throughput discovery of rare human nucleotide polymorphisms by Ecotilling.
PMID 16893952 · PMC1540726 · Nucleic acids research · 2006 · 7 claims · 6 setups
Ecotilling can be adapted to accurately discover and genotype human SNPs, with error rates low relative to resequencing
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Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanning.
PMID 16554551 · PMC1409816 · Nucleic acids research · 2006 · 7 claims · 8 setups
A cleavage-free mismatch oxidation assay using potassium permanganate and a standard UV/Vis microplate reader can detect DNA mismatches spectrophotometrically at 420 nm.
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An optimized procedure for the design and evaluation of Ecotilling assays.
PMID 18973671 · PMC2586031 · BMC genomics · 2008 · 8 claims · 7 setups
An optimized procedure integrating Vector NTI, Ensembl, Genomatix Suite, GelBuddy, and sequencing/functional-prediction tools streamlines the design, evaluation and interpretation of human Ecotilling assays
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MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.
PMID 15528791 · PMC3839337 · Disease markers · 2004 · 8 claims · 5 setups
MSI (or immunohistochemistry) testing applied to a pre-selected patient with a family history or early-onset colorectal cancer can distinguish HNPCC from unknown non-HNPCC colorectal cancer syndromes.
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A colorimetric method for point mutation detection using high-fidelity DNA ligase.
PMID 16257979 · PMC1275593 · Nucleic acids research · 2005 · 8 claims · 8 setups
High-fidelity Tth DNA ligase combined with allele-specific ligation-based gold nanoparticle assembly enables colorimetric single-base discrimination without precise temperature control
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Biologic diversity of polyomavirus BK genomic sequences: Implications for molecular diagnostic laboratories.
PMID 18712842 · PMC2906129 · Journal of medical virology · 2008 · 8 claims · 5 setups
Coverage of naturally occurring BKV strains varies substantially among current PCR diagnostic assays due to primer/probe mismatches
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Mutation detection using ENDO1: application to disease diagnostics in humans and TILLING and Eco-TILLING in plants.
PMID 18433472 · PMC2386800 · BMC molecular biology · 2008 · 7 claims · 6 setups
Co-agroinfiltration of ENDO1 and p19 constructs into N. benthamiana leaves gives high-level transient expression of active, mismatch-specific ENDO1 via a simple purification protocol
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Single nucleotide extension technology for quantitative site-specific evaluation of metC/C in GC-rich regions.
PMID 15958788 · PMC1150895 · Nucleic acids research · 2005 · 6 claims · 4 setups
SNaPshot primers with mismatches to upstream bisulfite-induced C/T or G/A polymorphisms produce a position-dependent biasing effect of up to 70%, decreasing as the mismatch moves farther upstream of the target cytosine
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A computational study of off-target effects of RNA interference.
PMID 15800213 · PMC1072799 · Nucleic acids research · 2005 · 8 claims · 5 setups
The chance of RNAi off-target effects is considerable, ranging from 5% to 80% depending on organism and parameters, when using exact sequence identity between siRNA and transcripts.
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The role of MYH and microsatellite instability in the development of sporadic colorectal cancer.
PMID 17031395 · PMC2360566 · British journal of cancer · 2006 · 8 claims · 8 setups
MYH-associated colorectal cancers can develop through either a chromosomal instability pathway or a microsatellite instability (MSI) pathway, contradicting the assumption that these are mutually exclusive.
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Design factors that influence PCR amplification success of cross-species primers among 1147 mammalian primer pairs.
PMID 17029642 · PMC1635982 · BMC genomics · 2006 · 8 claims · 7 setups
The number of index-species (IS) mismatches in a primer pair significantly reduces amplification success, with an estimated 6-8% decrease in success rate per additional mismatch.
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Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).
PMID 18846391 · PMC3155267 · Pediatric nephrology (Berlin, Germany) · 2009 · 8 claims · 5 setups
No UMOD mutations were identified in 96 patients with CAKUT after full mutation screening
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Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.
PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups
Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients