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).

• Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.

  PMID 36414417 · PMC10103091 · Journal of the American Society of Nephrology : JASN · 2023 · 7 claims · 7 setups

  Has reproduction · 85

  Hemizygous variants in the X-linked gene ARHGEF6 cause X-linked CAKUT in humans

  international kidney expressing madin-darby exome cdc42 lamellipodia

• Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

  PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups

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  Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes

  peripheral saccharomyces yeast ins-1e dhplc proton western

• Pharmacogenomic biomarkers.

  PMID 12364812 · PMC3850811 · Disease markers · 2002 · 8 claims · 8 setups

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  Development of a pharmacogenomic biomarker requires sequential steps: laboratory identification, retrospective confirmation in clinical samples, prospective clinical trial validation, and regulatory approval before patient stratification.

  populations population tumor breast genetic array immunohistochemistry

• Deep transcriptomics reveals cell-specific isoforms of pan-neuronal genes.

  PMID 40379625 · PMC12084633 · Nature communications · 2025 · 8 claims · 5 setups

  Has reproduction · 84

  Pan-neuronal genes (expressed in many/all neurons) harbor highly cell-specific splice variants/isoforms restricted to single or few neuron types.

  elegans short-read whole-animal rt-pcr

• Molecular genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 abolishes endotoxin-induced signaling.

  PMID 11435474 · PMC2193443 · The Journal of experimental medicine · 2001 · 8 claims · 7 setups

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  MD-2 is a required component of the LPS signaling complex; a point mutation in MD-2 abolishes LPS-induced signaling

  cho hek western nf-kb il-6

• The tumour suppressor L(3)mbt inhibits neuroepithelial proliferation and acts on insulator elements.

  PMID 21857667 · PMC3173870 · Nature cell biology · 2011 · 8 claims · 8 setups

  Has reproduction · 90

  Brain tumors in l(3)mbt mutants originate from overproliferation of neuroepithelial cells of the optic lobes, not from defects in asymmetric cell division.

  drosophila chip-seq chip immunostaining

• RummaGEO: Automatic mining of human and mouse gene sets from GEO.

  PMID 39569206 · PMC11573963 · Patterns (New York, N.Y.) · 2024 · 8 claims · 7 setups

  Has reproduction · 63

  RummaGEO is a gene expression signature search engine built from automatically mined human and mouse RNA-seq perturbation studies in GEO

  genes rummageo rummageo-derived leiden bulk gene leiden

• Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance.

  PMID 34779495 · PMC8611403 · Oncology reports · 2022 · 8 claims · 8 setups

  Has reproduction · 73

  NF1 is highly expressed in cetuximab-sensitive CRC cell lines and minimally expressed in cetuximab-resistant ones

  crc cetuximab-sensitive sirna ffpe western growth colony

• Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.

  PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups

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  A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.

  bone fibroblast 32d.cl8.6 32d rt-pcr genomic flow

• Report on the Molecular Approaches to Osteoarthritis Symposium, Imperial College London, UK, 18-20 April 2004.

  PMID 15380034 · PMC546282 · Arthritis research & therapy · 2004 · 8 claims · 8 setups

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  OA cartilage and synovium show an 'IL-1 signature' of upregulated inflammatory cytokines/chemokines, with peripheral blood leukocytes possibly activated by trafficking through affected joints

  cartilage knee mesenchymal chondrocytes transcriptional clinical overexpression

• Proteomics analysis of the expression of neurogranin in murine neuroblastoma (Neuro-2a) cells reveals its involvement for cell differentiation.

  PMID 17505539 · PMC1865092 · International journal of biological sciences · 2007 · 6 claims · 5 setups

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  Expression of Ng in Neuro-2a cells causes widespread down-regulation of microtubule components and associated proteins that mediate neurite outgrowth

  neuro-2a hek293 icat western morphology

• Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.

  PMID 18397877 · PMC2427143 · Human molecular genetics · 2008 · 8 claims · 8 setups

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  All six somatic TSC1 missense mutations found in bladder tumours cause loss of TSC1 function, but via distinct molecular mechanisms.

  hcv29 lines tsc1 bladder immunoblotting real-time co-immunoprecipitation

• Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin.

  PMID 18283111 · PMC2265576 · The Journal of cell biology · 2008 · 8 claims · 6 setups

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  α1-antitrypsin is a novel ERGIC-53 cargo protein identified via a YFP protein-fragment complementation assay (PCA) cDNA library screen

  cos-1 hela hepg2 ergic-53 yfp sirna [35s]methionine

• Associations between polycyclic aromatic hydrocarbon-related exposures and p53 mutations in breast tumors.

  PMID 20064791 · PMC2854728 · Environmental health perspectives · 2010 · 8 claims · 5 setups

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  PAH-related exposures are associated with breast cancer differently according to tumor p53 mutation status, type, effect, and number

  archived breast peripheral study surveyor immunohistochemistry competitive

• Identification of RNA-Binding Protein Targets with HyperTRIBE in Saccharomyces cerevisiae.

  PMID 37240377 · PMC10218906 · International journal of molecular sciences · 2023 · 7 claims · 8 setups

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  HyperTRIBE was successfully established in S. cerevisiae by fusing an RBP to the hyper-active catalytic domain of human ADAR2 (E488Q), marking target transcripts with A-to-G editing events detectable by high-throughput sequencing

  cerevisiae khd1 wild-type bfr1-heterozygous hypertribe western meme

• CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.

  PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups

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  Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)

  genomic radiolabelled tig-er u2os sscp protein-protein retroviral

• Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

  PMID 16429166 · PMC1342637 · PLoS genetics · 2005 · 8 claims · 5 setups

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  PANTHER subPSEC scores correctly predicted the functional impact of >94% (16/17) of tested naturally occurring ABCA1 variants

  abca1 stably subpsec cholesterol rt-pcr

• A combined approach exploring gene function based on worm-human orthology.

  PMID 15877817 · PMC1112593 · BMC genomics · 2005 · 8 claims · 6 setups

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  Strict phylogenetic criteria (concordant Neighbor Joining and Maximum Parsimony tree topology) can select single most-likely human orthologs for C. elegans genes despite the large phylogenetic distance between worm and human sequences.

  sapiens elegans hela phylogenetic rnai gfp

• Biochemical and functional characterization of the membrane association and membrane permeabilizing activity of the severe acute respiratory syndrome coronavirus envelope protein.

  PMID 16507314 · PMC7111751 · Virology · 2006 · 7 claims · 8 setups

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  Expression of SARS-CoV E protein in mammalian cells alters membrane permeability

  hela sf9 hygromycin site-directed subcellular

• Activating mutations in ALK provide a therapeutic target in neuroblastoma.

  PMID 18923525 · PMC2587486 · Nature · 2008 · 8 claims · 8 setups

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  Non-synonymous ALK kinase domain mutations occur in 8% of primary neuroblastomas, with F1174L being the most frequent

  neuroblastoma kelly fish sequencing cytokine-independence