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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Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.
PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups
A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.
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Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.
PMID 8879195 · PMC2192830 · The Journal of experimental medicine · 1996 · 6 claims · 8 setups
The patient is a compound heterozygote for a p67-phox gene mutation: an in-frame deletion of lysine 58 on one allele and an 11-13 kb genomic deletion on the other allele.
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Report on the Molecular Approaches to Osteoarthritis Symposium, Imperial College London, UK, 18-20 April 2004.
PMID 15380034 · PMC546282 · Arthritis research & therapy · 2004 · 8 claims · 8 setups
OA cartilage and synovium show an 'IL-1 signature' of upregulated inflammatory cytokines/chemokines, with peripheral blood leukocytes possibly activated by trafficking through affected joints
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Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.
PMID 18955570 · PMC2585845 · The Journal of experimental medicine · 2008 · 7 claims · 8 setups
Familial primary PAP is caused by compound heterozygous mutations in CSF2RA: a paternal G174R point mutation and a maternal 1.6-Mb deletion at Xp22.33 encompassing CSF2RA.
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Identification of HLA-DRPhebeta47 as the susceptibility marker of hypersensitivity to beryllium in individuals lacking the berylliosis-associated supratypic marker HLA-DPGlubeta69.
PMID 16098233 · PMC1198259 · Respiratory research · 2005 · 7 claims · 4 setups
HLA-DPGlu69 is the primary marker of Be-hypersensitivity, present at higher frequency in berylliosis patients than in Be-sensitized subjects and Be-exposed controls
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Elevated serum levels of interferon-regulated chemokines are biomarkers for active human systemic lupus erythematosus.
PMID 17177599 · PMC1702557 · PLoS medicine · 2006 · 8 claims · 4 setups
30 of 160 measured serum analytes (cytokines, chemokines, growth factors, soluble receptors) are dysregulated in SLE serum