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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Genetics of osteoarticular disorders, Florence, Italy, 22-23 February 2002.
PMID 12223106 · PMC128940 · Arthritis research · 2002 · 8 claims · 8 setups
OP and OA are common, polygenic, multifactorial quantitative disorders influenced by both low-penetrance genetic variants and environmental factors
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Environmental genome project: focusing on differences to understand the whole.
PMID 12460813 · PMC1241127 · Environmental health perspectives · 2002 · 8 claims · 4 setups
The EGP has generated a working list of more than 550 environmentally responsive genes involved in pathways such as metabolism, DNA repair, and cell cycle control as candidates for SNP resequencing.
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Proteomics of human neurodegenerative diseases.
PMID 18800015 · PMC2710115 · Journal of neuropathology and experimental neurology · 2008 · 8 claims · 8 setups
Proteomic techniques applied to autopsy brain and CSF from patients with neurodegenerative diseases provide insight into pathogenesis and enable biomarker discovery
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Current and future directions in genomics of amyotrophic lateral sclerosis.
PMID 18625410 · PMC3524513 · Physical medicine and rehabilitation clinics of North America · 2008 · 8 claims · 8 setups
Familial ALS (FALS, 5-10% of cases) follows Mendelian autosomal dominant inheritance, with 20% caused by SOD1 mutations and 80% by unknown mutations
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Discovery and validation of new molecular targets in treating dyslipidemia: the role of human genetics.
PMID 20211435 · PMC3328807 · Trends in cardiovascular medicine · 2009 · 8 claims · 8 setups
Mendelian randomization uses genetic variants as a 'randomized trial of nature' to assess causal relationships between lipid biomarkers and CHD, overcoming confounding and reverse causality limitations of observational epidemiology.
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Characterization of detergent-insoluble proteins in ALS indicates a causal link between nitrative stress and aggregation in pathogenesis.
PMID 19956584 · PMC2780298 · PloS one · 2009 · 8 claims · 8 setups
The Triton X-100-insoluble fraction (TIF) from spinal cord of G93A SOD1 mice is enriched in specific proteins (cytoskeletal, chaperone, mitochondrial, metabolic, signaling) compared to WT mice, already at a preclinical stage.
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Genomic views of distant-acting enhancers.
PMID 19741700 · PMC2923221 · Nature · 2009 · 8 claims · 8 setups
Meta-analysis of ~1200 top GWAS SNPs found that in 40% of cases (472/1170) no known exons overlap the linked SNP or its haplotype block, implying noncoding variation causally contributes to many traits.
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Synaptic dysfunction and oxidative stress in Alzheimer's disease: emerging mechanisms.
PMID 16989739 · PMC3933161 · Journal of cellular and molecular medicine · 2006 · 6 claims · 8 setups
Mutations in APP, PS1 and PS2 genes and polymorphisms in the APOE gene are implicated in AD pathogenesis
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Nitric oxide and redox regulation in the liver: part II. Redox biology in pathologic hepatocytes and implications for intervention.
PMID 20400112 · PMC2907433 · The Journal of surgical research · 2011 · 8 claims · 8 setups
ROS/RNS generated during hepatic ischemia/reperfusion cause cellular damage via mitochondrial dysfunction, ATP depletion, ion disturbances, and membrane/lysosomal disruption
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Lipopolysaccharide distinctively alters human microglia transcriptomes to resemble microglia from Alzheimer's disease mouse models.
PMID 36254682 · PMC9612871 · Disease models & mechanisms · 2022 · 8 claims · 8 setups
iPSC-microglia show a shared core transcriptional response to ATPγS and to LPS+IFN-γ, suggesting a convergent mechanism of action
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Mutations in PIK3CA are infrequent in neuroblastoma.
PMID 16822308 · PMC1533846 · BMC cancer · 2006 · 8 claims · 6 setups
PIK3CA activating mutations are infrequent in human neuroblastoma (2.9%, 2/69 tumors)
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Expression genomics in breast cancer research: microarrays at the crossroads of biology and medicine.
PMID 17397520 · PMC1868923 · Breast cancer research : BCR · 2007 · 8 claims · 8 setups
Genome-wide expression microarray studies reveal transcriptional networks/signatures that explain breast cancer biological and clinical heterogeneity
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Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.
PMID 17218254 · PMC1885944 · Cell · 2007 · 8 claims · 8 setups
A semidominant ENU-induced S140G mutation in α-1 tubulin (Tuba1) causes hyperactivity and impaired neuronal migration in Jna/+ mice
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Applying proteomics to the diagnosis and treatment of ALS and related diseases.
PMID 19670321 · PMC2836583 · Muscle & nerve · 2009 · 8 claims · 8 setups
Protein-based biomarkers for ALS/MND require further verification and large-scale validation/qualification studies, including disease mimics, before clinical use