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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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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Association of replication error positive phenotype with lymphocyte infiltration in endometrial cancers.
PMID 9818024 · PMC5921952 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 4 setups
RER+ phenotype (microsatellite instability at ≥2 of 7 loci) occurs in a subset (21-23%) of sporadic endometrioid endometrial adenocarcinomas but not in other histological types or endometrial hyperplasia
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Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.
PMID 10389971 · PMC2363009 · British journal of cancer · 1999 · 6 claims · 5 setups
Microsatellite instability is common in sporadic pancreatic cancer but occurs at a uniformly low rate and is not accompanied by hMLH1/hMSH2 alterations, suggesting it does not drive pancreatic tumorigenesis.
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups
A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family
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Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.
PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups
MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors
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Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups
Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series
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Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.
PMID 18036257 · PMC2222243 · BMC medical genetics · 2007 · 8 claims · 5 setups
Resequencing 81 candidate osteoporosis genes in 24 Koreans identified 942 variants (888 SNPs, 43 indels, 11 microsatellites)
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Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.
PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups
Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.
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High mitochondrial DNA stability in B-cell chronic lymphocytic leukemia.
PMID 19924307 · PMC2775629 · PloS one · 2009 · 7 claims · 5 setups
mtDNA control-region instability is not the primary causal factor in B-CLL
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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