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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Has reproduction · 74
Microglia-containing cerebral organoids derived from induced pluripotent stem cells for the study of neurological diseases.
PMID 36936782 · PMC10014280 · iScience · 2023 · 8 claims · 8 setups
A novel protocol using FGF/EGF/heparin growth factor supplementation and 10% CO2 culture generates cerebral organoids containing neurons, astrocytes, and microglia from iPSCs/hESCs
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Integrative analysis of RUNX1 downstream pathways and target genes.
PMID 18671852 · PMC2529319 · BMC genomics · 2008 · 7 claims · 8 setups
Integrating gene expression profiles from three independent RUNX1 perturbation platforms (FPD-AML patient cell lines, RUNX1/CBFβ overexpression in HeLa cells, Runx1 knockout mouse embryos) identifies RUNX1-regulated genes and downstream pathways
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Has reproduction · 62
Equivalent change enrichment analysis: assessing equivalent and inverse change in biological pathways between diverse experiments.
PMID 32093613 · PMC7041296 · BMC genomics · 2020 · 7 claims · 5 setups
Equivalent Change Enrichment Analysis (ECEA), built on a new gene-level statistic called the Equivalent Change Index (ECI), identifies pathways with non-random distributions of equivalently or inversely changed genes across two experiments.
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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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Multi-organ expression profiling uncovers a gene module in coronary artery disease involving transendothelial migration of leukocytes and LIM domain binding 2: the Stockholm Atherosclerosis Gene Expression (STAGE) study.
PMID 19997623 · PMC2780352 · PLoS genetics · 2009 · 8 claims · 6 setups
Functionally associated gene modules, not individual genes, underlie CAD development and can be identified via multi-organ expression clustering
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An online database for brain disease research.
PMID 16594998 · PMC1489945 · BMC genomics · 2006 · 7 claims · 5 setups
SMRIDB is a comprehensive web-based database integrating gene expression data and clinical metadata to aid understanding of the genetic effects of brain disease (bipolar disorder, schizophrenia, depression)
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Novel mutations in GJA1 cause oculodentodigital syndrome.
PMID 18946008 · PMC2588666 · Journal of dental research · 2008 · 8 claims · 3 setups
Heterozygous missense mutations in GJA1 were found in all analyzed ODD-affected individuals across ten unrelated families
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Comparing protein abundance and mRNA expression levels on a genomic scale.
PMID 12952525 · PMC193646 · Genome biology · 2003 · 8 claims · 8 setups
Correlations between mRNA expression and protein abundance are generally poor or limited across most studies reviewed, including in yeast and human cancers
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Proteomics as a tool for biomarker discovery.
PMID 18057524 · PMC3851415 · Disease markers · 2007 · 8 claims · 7 setups
A useful clinical biomarker must be easily attainable, have adequate sensitivity, have adequate specificity, and lead to patient benefit through intervention
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A genomic pathway approach to a complex disease: axon guidance and Parkinson disease.
PMID 17571925 · PMC1904362 · PLoS genetics · 2007 · 8 claims · 5 setups
A genomic pathway approach using axon-guidance pathway SNPs strongly predicts PD susceptibility, survival free of PD, and age at onset of PD
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Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.
PMID 17540169 · PMC4647864 · Cell · 2007 · 8 claims · 13 setups
DAPK1 promoter is epigenetically silenced by DNA methylation in almost all sporadic CLL cases
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DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia.
PMID 19102774 · PMC2630979 · BMC medical genetics · 2008 · 8 claims · 6 setups
Variation in SYN III distal CpG island methylation is not related to schizophrenia in the population sample or in a monozygotic twin pair discordant for schizophrenia
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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups
c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one
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Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups
PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).
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Genetic and functional association of FAM5C with myocardial infarction.
PMID 18430236 · PMC2383879 · BMC medical genetics · 2008 · 8 claims · 5 setups
SNPs within FAM5C show genetic linkage to and association with myocardial infarction in the GENECARD family-based sample
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Human genetics branches out in Barcelona.
PMID 18710599 · PMC2575509 · Genome biology · 2008 · 8 claims · 8 setups
A meta-analysis of three GWAS scans (DIAGRAM) identifies new type 2 diabetes susceptibility loci (JAZF1, CDC123/CAMK1D, ADAMTS9, THADA) with modest individual effect
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Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.
PMID 12839625 · PMC166146 · BMC neurology · 2003 · 8 claims · 7 setups
The patient is a compound heterozygote with a different splicing mutation in each Perlecan allele, causing a significant reduction in production of the normal (wild-type) protein.
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Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.
PMID 14970868 · PMC2410159 · British journal of cancer · 2004 · 7 claims · 5 setups
A large fraction of high-risk individuals in mutation-positive HNPCC families does not undergo genetic testing despite its benefits.
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A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups
A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family
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Has reproduction · 79
Contribution of retrotransposition to developmental disorders.
PMID 31604926 · PMC6789007 · Nature communications · 2019 · 7 claims · 8 setups
De novo retrotransposition events, though rare, can be diagnostic causes of severe developmental disorders