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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Inter-individual variation of DNA methylation and its implications for large-scale epigenome mapping.
PMID 18413340 · PMC2425484 · Nucleic acids research · 2008 · 8 claims · 8 setups
CpG-rich regions (CpG islands) show low and similar methylation levels across individuals, but the sequential order of the few methylated CpGs among the many unmethylated ones varies randomly between individuals.
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Transcriptome and proteome expressions involved in insulin resistance in muscle and activated T-lymphocytes of patients with type 2 diabetes.
PMID 18267303 · PMC5054231 · Genomics, proteomics & bioinformatics · 2007 · 8 claims · 8 setups
Gene expression of INSR, VDR, IDE, Akt, IRS-1, IRS-2, GLUT4, and glycolytic pathway enzymes is decreased at least 50% in T2DM muscle and activated T-cells versus non-diabetic controls
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Lymphocytes from patients with type 1 diabetes display a distinct profile of chromatin histone H3 lysine 9 dimethylation: an epigenetic study in diabetes.
PMID 18776137 · PMC2584123 · Diabetes · 2008 · 6 claims · 7 setups
Lymphocytes (but not monocytes) from type 1 diabetic patients show a distinct subset of genes with significantly increased H3K9me2 compared with healthy controls.
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Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.
PMID 18281252 · PMC2443276 · Carcinogenesis · 2008 · 7 claims · 4 setups
Cigarette smoking is associated with a higher frequency of somatic mtDNA mutations in buccal cells
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Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.
PMID 14735200 · PMC2409576 · British journal of cancer · 2004 · 8 claims · 2 setups
Seven germline INK4a-ARF changes (five novel) were found in 7 of 89 patients (8%) suspected of genetic predisposition to melanoma.
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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups
Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)
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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups
A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP
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A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells.
PMID 19911041 · PMC2766639 · PLoS genetics · 2009 · 8 claims · 7 setups
Padlock probes combined with high-throughput sequencing enable accurate, quantitative, low-bias digital RNA allelotyping of allele-specific expression
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Analysis of genetic variability and whole genome linkage of whole-brain, subcortical, and ependymal hyperintense white matter volume.
PMID 19834011 · PMC2787844 · Stroke · 2009 · 8 claims · 5 setups
Whole-brain, subcortical, and ependymal HWM volumes are all highly heritable
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Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.
PMID 14735197 · PMC2409581 · British journal of cancer · 2004 · 8 claims · 8 setups
Kindred MON1080 carries germline truncating mutations in both MSH2 and BRCA2, with two family members being double heterozygotes
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Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups
INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype
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Transcriptomic Study on the Lungs of Broilers with Ascites Syndrome.
PMID 36611783 · PMC9817706 · Animals : an open access journal from MDPI · 2023 · 8 claims · 6 setups
1442 genes were differentially expressed in AS broiler lung vs normal lung (614 up-regulated, 828 down-regulated)