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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Peripheral blood B lymphocytes derived from patients with idiopathic pulmonary arterial hypertension express a different RNA pattern compared with healthy controls: a cross sectional study.
PMID 18269757 · PMC2262076 · Respiratory research · 2008 · 7 claims · 4 setups
IPAH patients' peripheral blood B-lymphocytes express a distinct RNA profile compared with healthy controls
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Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.
PMID 19796717 · PMC2818230 · Bone · 2010 · 7 claims · 7 setups
A novel homozygous frame-shift mutation (c.485Tdel; p.Glu163ArgfsX53) in DMP1 exon 6 causes ARHP in the three affected kindred members
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alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.
PMID 19684871 · PMC2726717 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 5 setups
SNTA1 is a new susceptibility gene for LQTS
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Analysis of proteomic profiles and functional properties of human peripheral blood myeloid dendritic cells, monocyte-derived dendritic cells and the dendritic cell-like KG-1 cells reveals distinct characteristics.
PMID 17331236 · PMC1868942 · Genome biology · 2007 · 8 claims · 8 setups
moDCs and KG-1 cells show significant proteomic differences from primary mDCs, particularly in proteins involved in cell growth/maintenance and cell-cell interaction/integrity.
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A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.
PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.
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Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
PMID 19093009 · PMC2603250 · Molecular vision · 2008 · 8 claims · 6 setups
OCT detects foveal and lamellar macular retinoschisis more frequently than funduscopy alone
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Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.
PMID 18728755 · PMC2519029 · Molecular vision · 2008 · 8 claims · 5 setups
Male patients exhibit typical bilateral foveal retinoschisis in two retinal layers detected by OCT
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Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein.
PMID 18661559 · PMC8957216 · Annals of neurology · 2008 · 7 claims · 5 setups
The SNCA intron 4 marker rs2572324 is associated with the extent of neurofibrillary tangle (Braak stage) pathology.
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Metabolic profiling during malaria reveals the role of the aryl hydrocarbon receptor in regulating kidney injury.
PMID 33021470 · PMC7538157 · eLife · 2020 · 8 claims · 8 setups
Plasma AHR ligands derived from heme metabolism (biliverdin, bilirubin) and tryptophan/kynurenine pathway metabolites increase during acute Pc malaria in mice and acute cerebral malaria in humans
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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups
A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.