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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Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.
PMID 8641976 · PMC5921130 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 3 setups
Four of five Japanese VHL disease families showed germ line VHL gene mutations, comprising 2 missense mutations, 1 deletion, and 1 splice-site mutation
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A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation.
PMID 14521712 · PMC212228 · Molecular cancer · 2003 · 6 claims · 5 setups
Pro582Ser is a common HIF-1α ODD-domain polymorphism occurring at similar frequency in idiopathic erythrocytosis patients (0.109) and normal controls (0.073)
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Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.
PMID 16707008 · PMC1483898 · BMC cancer · 2006 · 6 claims · 4 setups
Somatic VHL gene alterations (LOH and mutation) may contribute to pathogenesis of MEN2A-associated MTC, similar to their role in MEN2 pheochromocytoma
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Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study.
PMID 15932632 · PMC1177929 · BMC cancer · 2005 · 7 claims · 4 setups
VHL mutations were detected in 61% (114/187) of sporadic clear-cell RCC patients
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Mosaicism in von Hippel-Lindau disease: an event important to recognize.
PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups
The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.
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Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegans.
PMID 15361934 · PMC515368 · PLoS biology · 2004 · 7 claims · 8 setups
The HIF-1/VHL-1/EGL-9 hydroxylase pathway is tightly conserved in C. elegans
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Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.
PMID 16404428 · PMC2361126 · British journal of cancer · 2006 · 6 claims · 5 setups
Somatic mtDNA mutations occur in renal cell carcinoma but are infrequent and frequently present at low (below 25%) heteroplasmy levels