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).

• The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

  PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups

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  The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)

  parental rfc hela blood genomic [3h]5-methyltetrahydrofolate northern

• A novel role for mitochondria in regulating epigenetic modification in the nucleus.

  PMID 18458531 · PMC2639623 · Cancer biology & therapy · 2008 · 8 claims · 6 setups

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  Mitochondria regulate epigenetic (DNA methylation) modification in the nucleus

  mcf12a mda-mb-435 143b restriction western bisulfite

• A restricted spectrum of NRAS mutations causes Noonan syndrome.

  PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups

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  Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation

  cohort cos-7 recombinant nras mutation western ras

• Lineage-specific, fast-evolving GATA-like gene regulates zygotic gene activation to promote endoderm specification and pattern formation in the Theridiidae spider.

  PMID 36203191 · PMC9535882 · BMC biology · 2022 · 8 claims · 8 setups

  Has reproduction · 65

  Comparative RNA-seq of cells isolated from central, intermediate, and peripheral regions of stage-3 embryos identifies genes with locally restricted expression genome-wide

  tepidariorum drosophila rna-seq whole-mount parental

• Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

  PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups

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  R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity

  polarized mdck mdck-cftr patients confocal surface western

• Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

  PMID 18682814 · PMC2493031 · Molecular vision · 2008 · 8 claims · 6 setups

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  dHPLC detected the paternally inherited fetal CRB1 mutation (p.Cys896ter) in maternal plasma collected at 12 weeks gestation

  maternal serial genomic chorion dhplc automated pcr

• Use of functional genomics to understand influenza-host interactions.

  PMID 17765704 · PMC7112328 · Advances in virus research · 2007 · 8 claims · 8 setups

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  Functional genomics/microarray analysis provides a global view of host response to influenza infection that reveals virus-host interaction mechanisms not accessible by conventional techniques

  hela a549 lung texas cdna microarray infection