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).

• ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

  PMID 18465152 · PMC2441586 · Neurogenetics · 2008 · 8 claims · 8 setups

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  37% (16/43) of Dutch index patients with early-onset recessive cerebellar ataxia carry SACS mutations, indicating ARSACS is far more frequent than previously estimated

  genomic identified sacs-mutation-positive alleles pcr clinical brain

• Spns1-dependent endocardial lysosomal function drives valve morphogenesis through Notch1-signaling.

  PMID 39720516 · PMC11667069 · iScience · 2024 · 7 claims · 8 setups

  Has reproduction · 78

  Autophagosomal, autolysosomal, and lysosomal vesicles significantly accumulate in the atrioventricular canal (AVC) and outflow tract (OFT)/bulboventricular regions and their developing valves during zebrafish heart development.

  β-actin2 tgki cmv tgbac light-sheet lysotracker lysosome

• The 32nd Annual Congress of the Society of Critical Care Medicine, 28 January - 2 February 2003, San Antonio, USA.

  PMID 12720569 · PMC270663 · Critical care (London, England) · 2003 · 8 claims · 8 setups

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  Proteomics is more useful than genomics for identifying regulatory pathways and druggable targets in disease because transcriptional responses to different stimuli often converge while protein interaction networks reveal distinct regulatory nodes

  macrophages patients animal ards gene histological mechanical

• Prevalence of the congenital long-QT syndrome.

  PMID 19841298 · PMC2784143 · Circulation · 2009 · 7 claims · 6 setups

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  The prevalence of LQTS among Caucasian apparently healthy live-births is at least 1:2,534 (95% CI 1:1,583-1:4,350)

  neonates family heterologous 12-lead targeted transthoracic

• Inference of transcriptional regulation using gene expression data from the bovine and human genomes.

  PMID 17683551 · PMC1978505 · BMC genomics · 2007 · 7 claims · 8 setups

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  Using human reference promoter sequences is a useful approach for studying gene expression regulation in species with limited or non-existing genomic sequence, such as cattle.

  muscle-specific bovine refseq cardiac novo est blastn

• Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes.

  PMID 18804399 · PMC2702757 · Parkinsonism & related disorders · 2009 · 6 claims · 4 setups

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  The same LRRK2 I2020T mutation can produce diverse neuropathologies (pure nigral degeneration, Lewy body pathology, or MSA-P) even when clinical presentation and PET findings are virtually identical across family members.

  living post-mortem pet neuropathologic immunohistochemistry