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).

• A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

  PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups

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  A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family

  family sural nefl-null sw-13 clinical genetic immunohistochemistry

• Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

  PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups

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  Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings

  blood hek293a bosc serum sanger calcium confocal

• 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