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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Recurrent KRAS codon 146 mutations in human colorectal cancer.
PMID 16969076 · PMC2714972 · Cancer biology & therapy · 2006 · 8 claims · 8 setups
KRAS A146 missense mutations are a recurrent, previously unrecognized class of somatic mutation in colorectal cancer
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Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.
PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups
OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.
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Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.
PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups
BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK
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Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.
PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups
Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded
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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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PIK3CA alterations in Middle Eastern ovarian cancers.
PMID 19638206 · PMC2724395 · Molecular cancer · 2009 · 8 claims · 7 setups
PIK3CA gene amplification is frequent in Middle Eastern EOC, found in 54/152 (35.5%) cases
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The oncogene AAMDC links PI3K-AKT-mTOR signaling with metabolic reprograming in estrogen receptor-positive breast cancer.
PMID 33772001 · PMC7998036 · Nature communications · 2021 · 8 claims · 8 setups
AAMDC is an amplified/overexpressed oncogene in a subgroup of ER-positive breast cancers (IntClust2) associated with poor prognosis
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Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.
PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups
Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC
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p53 gene mutations associated with anaplastic transformation of human thyroid carcinomas.
PMID 1483945 · PMC5918745 · Japanese journal of cancer research : Gann · 1992 · 6 claims · 4 setups
p53 gene mutations were found in 2 of 9 anaplastic thyroid carcinomas by RNase protection analysis and confirmed by DNA sequencing
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Molecular analysis of tumor suppressor genes, Rb, p53, p16INK4A, p15INK4B and p14ARF in natural killer cell neoplasms.
PMID 11676855 · PMC5926606 · Japanese journal of cancer research : Gann · 2001 · 8 claims · 5 setups
Gene amplification of p53 was detected in one nasal NK cell lymphoma
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Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
PMID 20029656 · PMC2796875 · Molecular vision · 2009 · 6 claims · 5 setups
No disease-causing mutations in COL4A3 or COL4A4 were found to be related to KC.
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A pre-S gene chip to detect pre-S deletions in hepatitis B virus large surface antigen as a predictive marker for hepatoma risk in chronic hepatitis B virus carriers.
PMID 19751529 · PMC2755474 · Journal of biomedical science · 2009 · 8 claims · 5 setups
Pre-S1 and pre-S2 deletion mutants of the HBV LHBS gene are highly associated with HBV-related HCC
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Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
PMID 18704501 · PMC2525844 · Human genetics · 2008 · 6 claims · 5 setups
Next-generation (Roche/454) resequencing of 136 kb at 8q24 in 39 prostate cancer cases and 40 controls generated a comprehensive catalog of common SNPs (MAF>1%), including 442 novel SNPs
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Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer.
PMID 19644707 · PMC2778717 · Human genetics · 2009 · 7 claims · 5 setups
Resequencing of the 97-kb 10q11.2 region identified 241 novel polymorphisms not previously reported in dbSNP
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Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal cancer.
PMID 12546713 · PMC149362 · BMC genetics · 2003 · 8 claims · 7 setups
PIGR is a nasopharyngeal cancer susceptibility gene
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Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.
PMID 16507150 · PMC1413975 · Breast cancer research : BCR · 2006 · 6 claims · 7 setups
kConFab is a collaborative resource providing epidemiological, clinical, and biospecimen data from high-risk familial breast/ovarian cancer families, available to researchers worldwide for ethically approved, peer-reviewed projects.
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Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.
PMID 17672902 · PMC1950089 · BMC medical genetics · 2007 · 8 claims · 6 setups
The major APOE haplotype (Hap1) is significantly associated with SAH
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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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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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Molecular epidemiology of measles viruses in the United States, 1997-2001.
PMID 12194764 · PMC2732556 · Emerging infectious diseases · 2002 · 8 claims · 6 setups
The diversity of measles virus genotypes observed in the US from 1997–2001 reflects multiple imported sources of virus, indicating no strain of measles is endemic in the United States.