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 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

• An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

  PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups

  Has reproduction

  HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition

  cos-7 transiently patients parental ras co-immunoprecipitation immunoblotting

• Increased constraints on MC4R during primate and human evolution.

  PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups

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  There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.

  hgdp-ceph germans central additional dhplc direct coding

• Discovery and validation of new molecular targets in treating dyslipidemia: the role of human genetics.

  PMID 20211435 · PMC3328807 · Trends in cardiovascular medicine · 2009 · 8 claims · 8 setups

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  Mendelian randomization uses genetic variants as a 'randomized trial of nature' to assess causal relationships between lipid biomarkers and CHD, overcoming confounding and reverse causality limitations of observational epidemiology.

  population myocardial individuals animal genome-wide case-control gene

• Integrative analysis of RUNX1 downstream pathways and target genes.

  PMID 18671852 · PMC2529319 · BMC genomics · 2008 · 7 claims · 8 setups

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  Integrating gene expression profiles from three independent RUNX1 perturbation platforms (FPD-AML patient cell lines, RUNX1/CBFβ overexpression in HeLa cells, Runx1 knockout mouse embryos) identifies RUNX1-regulated genes and downstream pathways

  lymphoblastic hela runx1 aml cdna microarray affymetrix

• Quantitative mass spectrometry of diabetic kidney tubules identifies GRAP as a novel regulator of TGF-beta signaling.

  PMID 19836472 · PMC2829334 · Biochimica et biophysica acta · 2010 · 8 claims · 7 setups

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  Label-free 2D-LC-MS/MS quantitative proteomics identified 476 significantly differentially expressed proteins in kidney tubules of diabetic OVE26 mice versus control mice

  kidney hk11 list 2d-lc-ms immunoblot immunohistochemistry

• Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

  PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups

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  Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)

  families genes individuals kidney genome-wide sanger resequencing

• The many uses of a genome sequence.

  PMID 11423005 · PMC138940 · Genome biology · 2001 · 8 claims · 8 setups

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  Solved protein structures from structural genomics efforts can be used to model many other proteins by homology, aiding function prediction

  recombinant mammalian chromosome chimpanzee x-ray quantitative tiling