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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Fucosylated glycoproteins as markers of liver disease.
PMID 19126969 · PMC3827789 · Disease markers · 2008 · 8 claims · 6 setups
Core alpha 1,6-linked fucosylation of AFP (AFP-L3) is increased in HCC and is a more specific marker of HCC than total AFP
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KEGG spider: interpretation of genomics data in the context of the global gene metabolic network.
PMID 19094223 · PMC2646283 · Genome biology · 2008 · 8 claims · 8 setups
KEGG spider, using a global 'pathway-free' metabolic network framework, provides deeper insight into metabolism variations than existing enrichment-based methods.
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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
PMID 19050726 · PMC2672961 · European journal of human genetics : EJHG · 2009 · 8 claims · 8 setups
A 12-nucleotide deletion (c.2997_3008del) in FLNC exon 18, predicting an in-frame four-residue deletion (p.Val930_Thr933del) in the seventh Ig-like repeat of filamin C, was identified in a German family with MFM (mother and daughter).
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Gene-disease relationship discovery based on model-driven data integration and database view definition.
PMID 19042916 · PMC2639000 · Bioinformatics (Oxford, England) · 2009 · 8 claims · 4 setups
Explicit gene–disease relationships can be formulated as candidate gene definitions (e.g., co-localization, dysregulation, functional similarity) that may include intermediary orthologous or interacting genes
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Highly individual methylation patterns of alternative glucocorticoid receptor promoters suggest individualized epigenetic regulatory mechanisms.
PMID 19004867 · PMC2602793 · Nucleic acids research · 2008 · 7 claims · 4 setups
Methylation patterns of the five GR promoters activated in PBMCs are highly variable between individuals.
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Frameshift mutations in coding repeats of protein tyrosine phosphatase genes in colorectal tumors with microsatellite instability.
PMID 19000305 · PMC2586028 · BMC cancer · 2008 · 7 claims · 6 setups
16 PTP candidate genes containing coding mononucleotide repeats (cMNR) of at least 7 units were identified via bioinformatic analysis and screened in MSI-H cell lines, cancers, and adenomas
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Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.
PMID 18948002 · PMC2592511 · Neuromuscular disorders : NMD · 2008 · 7 claims · 7 setups
The patient carries a homozygous Trp25X (TGG→TGA) mutation in TCAP causing premature termination of translation/transcription and complete telethonin deficiency.
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Biomarker discovery in neurodegenerative diseases: a proteomic approach.
PMID 18938247 · PMC2939006 · Neurobiology of disease · 2009 · 6 claims · 8 setups
Proteomic profiling of CSF and plasma can identify candidate protein biomarkers that distinguish AD patients from controls with high sensitivity and specificity
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DDBJ dealing with mass data produced by the second generation sequencer.
PMID 18927114 · PMC2686496 · Nucleic acids research · 2009 · 8 claims · 7 setups
DDBJ collected and released 2,368,110 entries (1,415,106,598 bases) of original DNA sequence data from July 2007 to June 2008.
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HIT: a versatile proteomics platform for multianalyte phenotyping of cytokines, intracellular proteins and surface molecules.
PMID 18849997 · PMC3334282 · Nature medicine · 2008 · 8 claims · 8 setups
HIT uses oligonucleotide-tagged (Fab- or mSA-conjugated) antibodies, T7 polymerase amplification, and DNA microarray hybridization to indirectly measure multiple analytes in a fluid-phase multiplex format
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Genome wide identification of recessive cancer genes by combinatorial mutation analysis.
PMID 18846217 · PMC2557123 · PloS one · 2008 · 7 claims · 4 setups
A combinatorial mutation analysis identified 154 candidate recessive cancer genes (pRecessiveCancer<1.5x10-7, FDR=0.39)
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Proteomic analysis identifies MMP-9, DJ-1 and A1BG as overexpressed proteins in pancreatic juice from pancreatic ductal adenocarcinoma patients.
PMID 18706098 · PMC2528014 · BMC cancer · 2008 · 7 claims · 6 setups
MMP-9, DJ-1 and A1BG are overexpressed in pancreatic juice and tissue from PDAC patients compared with cancer-free/normal controls
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A modular analysis framework for blood genomics studies: application to systemic lupus erythematosus.
PMID 18631455 · PMC2727981 · Immunity · 2008 · 7 claims · 8 setups
Transcriptional modules constructed from coordinately expressed genes across 8 diseases form stable, biologically coherent functional units
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A common haplotype within the PON1 promoter region is associated with sporadic ALS.
PMID 18618303 · PMC2739087 · Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases · 2008 · 7 claims · 6 setups
Two SNPs (rs987539 in PON2 intron 6 and rs2074351 upstream of PON1 exon 2) within the paraoxonase gene cluster are significantly associated with susceptibility to sporadic ALS
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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups
Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1
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Proteomic surveillance of retinal autoantigens in endogenous uveitis: implication of esterase D and brain-type creatine kinase as novel autoantigens.
PMID 18552983 · PMC2426731 · Molecular vision · 2008 · 7 claims · 6 setups
Six novel candidate retinal autoantigens (β-actin, esterase D, tubulin β-2, brain-type creatine kinase, VDAC, aspartate aminotransferase) were identified by 2D-WB and mass spectrometry in EAU mice
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The genomic analysis of erythrocyte microRNA expression in sickle cell diseases.
PMID 18523662 · PMC2408759 · PloS one · 2008 · 8 claims · 8 setups
Mature human erythrocytes lack ribosomal/large RNAs but contain abundant and diverse microRNAs
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The RHNumtS compilation: features and bioinformatics approaches to locate and quantify Human NumtS.
PMID 18522722 · PMC2447851 · BMC genomics · 2008 · 8 claims · 4 setups
A consensus Reference Human NumtS compilation (RHNumtS) was produced by comparing Blastn, MegaBlast and BLAT results with previously published compilations.
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ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.
PMID 18416817 · PMC2377272 · BMC cancer · 2008 · 8 claims · 7 setups
Five genes (NQO1, ATBF1, DBNDD1, HSBP1, CGI-38) at 16q show significantly lower mRNA expression in breast tumors with LOH at 16q compared to tumors without LOH
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Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups
16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis