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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Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.
PMID 18783588 · PMC2547096 · BMC medical genetics · 2008 · 8 claims · 5 setups
Five recurrent mutations (1806C>T, 300T>G, 300T>A, 5382insC in BRCA1; IVS16-2A>G in BRCA2) are responsible for the majority of BRCA1/2-positive Slovenian families
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BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.
PMID 18704680 · PMC2775077 · Breast cancer research and treatment · 2009 · 8 claims · 8 setups
The Breast Cancer Family Registry is an open resource for collaborative interdisciplinary and translational studies of the genetic epidemiology of breast cancer.
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A statistical model to identify differentially expressed proteins in 2D PAGE gels.
PMID 19763172 · PMC2734266 · PLoS computational biology · 2009 · 7 claims · 5 setups
A mixture likelihood model incorporating both detected and non-detected proteins has higher statistical power to detect differential expression than standard approaches like the Student's t-test.
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Proteomic identification of secreted proteins as surrogate markers for signal transduction inhibitor activity.
PMID 17211472 · PMC2360009 · British journal of cancer · 2007 · 5 claims · 5 setups
Inhibiting EGFR signalling with Gefitinib alters the pattern of proteins secreted by cancer cells, and these changes can serve as an indirect quantitative assay for drug action
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The spectrum of ATM missense variants and their contribution to contralateral breast cancer.
PMID 17393301 · PMC2137941 · Breast cancer research and treatment · 2008 · 6 claims · 3 setups
ATM missense variant frequency does not differ significantly between CBC and UBC patients, indicating no major impact on overall CBC risk
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TP53 intron 6 polymorphism and the risk of ovarian and breast cancer.
PMID 9484829 · PMC2149940 · British journal of cancer · 1998 · 5 claims · 2 setups
The N' allele (G-to-A variant) is significantly more prevalent in ovarian cancer patients than in controls (P=0.01)
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Prognostic significance of p53 and ras gene abnormalities in lung adenocarcinoma patients with stage I disease after curative resection.
PMID 7852188 · PMC5919395 · Japanese journal of cancer research : Gann · 1994 · 6 claims · 5 setups
Presence of p53 gene abnormalities is associated with shorter disease-free survival in stage I lung adenocarcinoma
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Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups
CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations
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Mutation analysis of the AATF gene in breast cancer families.
PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups
No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk
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Somatic mutations of KIT in familial testicular germ cell tumours.
PMID 15150569 · PMC2410291 · British journal of cancer · 2004 · 6 claims · 3 setups
No germline KIT mutations were found in constitutional DNA from 240 familial TGCT pedigrees
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BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients.
PMID 10952777 · PMC2363542 · British journal of cancer · 2000 · 7 claims · 4 setups
11 mutations (9 BRCA1, 2 BRCA2) were identified across 105 Turkish patients using combined PTT, sequencing, and heteroduplex analysis.
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Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.
PMID 12100744 · PMC116720 · Breast cancer research : BCR · 2002 · 8 claims · 4 setups
Germline BRCA1 and BRCA2 mutations are present in Iranian women with early-onset breast cancer, including four novel frameshift mutations
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Localized-statistical quantification of human serum proteome associated with type 2 diabetes.
PMID 18795103 · PMC2529402 · PloS one · 2008 · 8 claims · 5 setups
Developed LSPAD (localized statistics of protein abundance distribution) to calculate statistical significance of protein-abundance bias between two serum cohorts using a local Fisher's exact test window
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Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
PMID 18489799 · PMC2413254 · BMC cancer · 2008 · 8 claims · 6 setups
Pathogenic BRCA1/BRCA2 mutations were identified in 294 of 1,010 (29.1%) unrelated high-risk Czech probands
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Detection of venous thromboembolism by proteomic serum biomarkers.
PMID 17579716 · PMC1891085 · PloS one · 2007 · 5 claims · 8 setups
A neural network-based classifier built from direct MALDI-TOF MS serum protein expression profiles can diagnose VTE with sensitivity/specificity that exceeds D-dimer assays
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Proteomic analysis of aqueous humor from patients with myopia.
PMID 18334949 · PMC2268849 · Molecular vision · 2008 · 7 claims · 6 setups
Total protein concentration in AH is significantly greater in high myopia patients than in non-myopic controls
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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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Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.
PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups
Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)
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Prediction of missed cleavage sites in tryptic peptides aids protein identification in proteomics.
PMID 17203985 · PMC2664920 · Journal of proteome research · 2007 · 8 claims · 4 setups
An information-theoretic log-likelihood scoring method can predict experimentally observed missed cleavage sites from amino acid sequence alone with up to 90% accuracy.
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Generation of a restriction minus enteropathogenic Escherichia coli E2348/69 strain that is efficiently transformed with large, low copy plasmids.
PMID 18681975 · PMC2518929 · BMC microbiology · 2008 · 8 claims · 7 setups
E2348/69 possesses a type I restriction-modification system encoded by an hsdMSR-like operon identified by homology to known Hsd proteins.