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 association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study.
PMID 16688411 · PMC3451703 · The journal of headache and pain · 2006 · 7 claims · 3 setups
No association was found between COMT Val158Met polymorphism and migraine in a population-based sample.
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A common missense variant in BRCA2 predisposes to early onset breast cancer.
PMID 16280055 · PMC1410744 · Breast cancer research : BCR · 2005 · 7 claims · 4 setups
BRCA2 C5972T homozygosity (TT genotype) is rare but confers a roughly five-fold increased risk of breast cancer.
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Early days: genomics and human responses to infection.
PMID 16679048 · PMC7108404 · Current opinion in microbiology · 2006 · 8 claims · 8 setups
DNA microarray-based transcript profiling of primate/human responses to infection has begun to yield new insights into host-pathogen interactions but is limited by unresolved methodological challenges.
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Genetic analysis of 10 unrelated Korean families with p22-phox-deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea.
PMID 19949658 · PMC2775850 · Journal of Korean medical science · 2009 · 8 claims · 4 setups
All 12 analyzed CGD patients from 10 unrelated Jeju families carry an identical homozygous c.7C>T substitution in exon 1 of CYBA, predicted to cause a nonsense mutation (p.Q3X)
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Gene expression study on peripheral blood identifies progranulin mutations.
PMID 18551524 · PMC2773201 · Annals of neurology · 2008 · 7 claims · 3 setups
PGRN is highly expressed in peripheral blood (97th percentile of all array genes)
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Has reproduction · 58
Intergenic risk variant rs56258221 skews the fate of naive CD4(+) T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis.
PMID 38901430 · PMC11293351 · Cell reports. Medicine · 2024 · 8 claims · 8 setups
rs56258221 (BACH2/MIR4464) associates with a distinct peripheral blood T cell immunophenotype in people with PSC
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Has reproduction · 96
Scalable Prediction of Acute Myeloid Leukemia Using High-Dimensional Machine Learning and Blood Transcriptomics.
PMID 31918046 · PMC6992905 · iScience · 2020 · 8 claims · 8 setups
Assembled the largest reference blood gene expression profiling (GEP) dataset for AML to date: 12,029 samples from 105 studies across three platforms.
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Has reproduction · 69
Bioinformatics and system biology approaches to identify pathophysiological impact of COVID-19 to the progression and severity of neurological diseases.
PMID 34601390 · PMC8483812 · Computers in biology and medicine · 2021 · 8 claims · 8 setups
COVID-19 and neurological diseases (NDs) share pathophysiological connections that influence disease progression and severity
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Has reproduction · 80
Specific signature biomarkers highlight the potential mechanisms of circulating neutrophils in aneurysmal subarachnoid hemorrhage.
PMID 36438795 · PMC9685413 · Frontiers in pharmacology · 2022 · 8 claims · 8 setups
A neutrophil-related co-expression gene module (blue module) is significantly associated with aSAH occurrence
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Has reproduction · 67
Integrative analyses reveal signaling pathways underlying familial breast cancer susceptibility.
PMID 26969729 · PMC4812528 · Molecular systems biology · 2016 · 8 claims · 6 setups
Cell adhesion pathways are significantly and consistently dysregulated in women who develop familial breast cancer (FBC)
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Has reproduction · 73
Exploring the prognostic and diagnostic value of lactylation-related genes in sepsis.
PMID 39367086 · PMC11452377 · Scientific reports · 2024 · 8 claims · 7 setups
Intersecting sepsis-associated differentially expressed genes with a curated list of 332 lactylation genes yields 55 sepsis-related lactylation genes.
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Has reproduction · 86
Screening of core genes prognostic for sepsis and construction of a ceRNA regulatory network.
PMID 36855106 · PMC9976425 · BMC medical genomics · 2023 · 8 claims · 7 setups
RNA-seq of peripheral blood from 23 sepsis patients and 10 healthy controls identifies 1,044 DEmRNAs, 66 DEmiRNAs and 155 DElncRNAs.
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Has reproduction · 73
Identification of intrinsic genes across general hypertension, hypertension with left ventricular remodeling, and uncontrolled hypertension.
PMID 36277786 · PMC9582241 · Frontiers in cardiovascular medicine · 2022 · 7 claims · 8 setups
FBXW4 and 13 other genes are uniquely enriched in the general hypertension group
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Has reproduction · 54
Profiling chromatin accessibility responses in human neutrophils with sensitive pathogen detection.
PMID 34145026 · PMC8321655 · Life science alliance · 2021 · 8 claims · 6 setups
ATAC-seq reveals unique neutrophil chromatin architecture changes in response to different stimuli before transcriptional activation, possibly regulating downstream gene expression.
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Has reproduction · 64
Blood Transcriptome Analysis of Septic Patients Reveals a Long Non-Coding Alu-RNA in the Complement C5a Receptor 1 Gene.
PMID 35447887 · PMC9027897 · Non-coding RNA · 2022 · 6 claims · 7 setups
A computational pipeline intersecting immune gene coordinates with Alu element coordinates can identify candidate Alu-lncRNAs
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Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.
PMID 8513767 · PMC1519656 · Environmental health perspectives · 1993 · 7 claims · 4 setups
In vivo hprt mutants from 63 independent donors were molecularly characterized by cDNA and genomic DNA PCR/sequencing.
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Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.
PMID 8613431 · PMC5921088 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 4 setups
hMSH2 germline mutations were detected in 5 of 36 Japanese HNPCC kindreds (14%)
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Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.
PMID 10027313 · PMC2362434 · British journal of cancer · 1999 · 7 claims · 5 setups
Allelic distribution of the Cyp19 intron 4 STRP differs significantly between breast cancer cases and controls
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Population carrier frequency of hMSH2 and hMLH1 mutations.
PMID 11104559 · PMC2363440 · British journal of cancer · 2000 · 6 claims · 6 setups
Population carrier frequency of hMSH2/hMLH1 mutations in people aged 15-74 years is estimated at 1:3139 (95% CI 1:1247-1:7626)
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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.