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).

• From single cells to whole organisms.

  PMID 16420683 · PMC1414103 · Genome biology · 2005 · 8 claims · 8 setups

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  The genetic-interaction map in S. cerevisiae is roughly four times as complex as the protein-protein interaction map, and genetic interactions do not overlap with physical interactions but instead predict functional neighborhoods

  saccharomyces caenorhabditis mammalian cylindromatosis automated interference rnai

• FAM3C/ILEI protein is elevated in psoriatic lesions and triggers psoriasiform hyperproliferation in mice.

  PMID 37226685 · PMC10331587 · EMBO molecular medicine · 2023 · 8 claims · 8 setups

  Has reproduction · 83

  ILEI protein, but not mRNA, is elevated in psoriatic skin and correlates with disease severity

  skin full-thickness normal k5-ileiind immunohistochemistry scrna-seq bulk

• Peeling off the layers: skin taping and a novel proteomics approach to study atopic dermatitis.

  PMID 19748658 · PMC8648281 · The Journal of allergy and clinical immunology · 2009 · 8 claims · 3 setups

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  Noninvasive D-Squame tape stripping coupled with MS proteomics can profile the AD skin proteome

  skin extracted lesion skin lc-ms statistical

• Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers and immune infiltration characteristics of vitiligo via comprehensive strategies.

  PMID 34107850 · PMC8806433 · Bioengineered · 2021 · 7 claims · 8 setups

  Has reproduction · 55

  131 robust DEGs (89 upregulated, 42 downregulated) were identified by RRA integration of three vitiligo datasets and are closely associated with melanogenesis and vitiligo development

  lesional merged robust verification gene robust weighted

• Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.

  PMID 41685349 · PMC12891912 · NAR genomics and bioinformatics · 2026 · 8 claims · 6 setups

  Has reproduction

  A streamlined RNA-guided workflow combining OUTRIDER, FRASER, Borzoi, and MOLGENIS VIP was developed to identify gene-disease associations by linking outlier gene expression/splicing to prioritized patient-level variants

  udn blood clinvar wgs wgs bulk rna-seq

• Comprehensive Analysis of Cell Population Dynamics and Related Core Genes During Vitiligo Development.

  PMID 33679890 · PMC7933673 · Frontiers in genetics · 2021 · 8 claims · 7 setups

  Has reproduction · 67

  Immune cell infiltration and abnormal gene expression are closely related to vitiligo pathogenesis

  skin peripheral vitiligo deg gene immune coexpression

• A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

  PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

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  A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

  blood-derived patient-derived serum genomic direct rt-pcr gelatin

• Exploration of RNA-binding proteins identified RPS27 as a potential regulator associated with Kaposi's sarcoma development.

  PMID 40016701 · PMC11866810 · BMC cancer · 2025 · 6 claims · 8 setups

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  48 RBP genes are differentially expressed in KS tissue (3 upregulated: PCBP3, L1TD1, PEG10; 45 downregulated, mostly ribosomal protein genes including RPS27)

  matched lesion huvecs rna-sequencing rna-seq irip-seq

• Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

  PMID 16934001 · PMC1550284 · PLoS genetics · 2006 · 7 claims · 6 setups

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  The E320Q, Q463H, and L706S STAT1 alleles are intrinsically deleterious for both IFNG/GAF-mediated and IFNA/ISGF3-mediated immunity when tested in STAT1-deficient transfected cells

  ebv-transformed sv40-transformed nuclear stat1-deficient cdna western immunofluorescence

• Extent of laminin-5 assembly and secretion effect junctional epidermolysis bullosa phenotype.

  PMID 9547338 · PMC2212220 · The Journal of experimental medicine · 1998 · 6 claims · 6 setups

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  The most severe (Herlitz) form of JEB correlates best with mutations causing premature termination codons (PTCs), not with mutation location in a particular protein domain

  keratinocytes keratinocyte genomic pcr biosynthetic northern pcr

• Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

  PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

  genomic pcr-amplified tsc healthy dhplc direct pcr

• Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

  PMID 18546365 · PMC2891192 · Human mutation · 2008 · 8 claims · 4 setups

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  POLG mutations cause at least 6 major heterogeneous phenotypes of neurodegenerative mitochondrial disease (MCHS, Alpers syndrome, ANS, MEMSA, arPEO, adPEO)

  blood parental model sanger parental microsatellite

• EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

  PMID 17125505 · PMC1684249 · BMC medical genetics · 2006 · 6 claims · 3 setups

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  A nonsense mutation c.1072C>T (p.Arg358X) in exon 12 of EDAR was identified in affected individuals from both Swedish families and is disease-specific

  genomic patients dhplc pcr clinical

• PD-1 and TIGIT coexpression identifies a circulating CD8 T cell subset predictive of response to anti-PD-1 therapy.

  PMID 33188038 · PMC7668369 · Journal for immunotherapy of cancer · 2020 · 7 claims · 6 setups

  Has reproduction · 75

  The frequency of circulating PD-1+TIGIT+ (DPOS) CD8+ T cells after 1 month of anti-PD-1 therapy is associated with clinical response and overall survival

  pbmcs sorted expanded cancer multiparameter receptor targeted

• Defining human diabetic nephropathy on the molecular level: integration of transcriptomic profiles with biological knowledge.

  PMID 18704688 · PMC2597685 · Reviews in endocrine & metabolic disorders · 2008 · 8 claims · 8 setups

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  Genetic predisposition determines susceptibility and rate of progression to ESRD in diabetic patients, in addition to environmental factors

  kidney proximal pbmcs macrophages gene qrt-pcr immunohistochemistry

• When does a protein become an allergen? Searching for a dynamic definition based on most advanced technology tools.

  PMID 18477011 · PMC2607534 · Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2008 · 7 claims · 8 setups

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  IgE-binding is not an intrinsic property of a protein but the result of an interaction between two molecules (antigen and IgE), so a molecule can only be classified relative to demonstrated IgE binding.

  subjects allergic serum allergenic double-blind skin serum

• Integrated multi-omics analysis combined with clinical validation reveals that HLA-DRB5 and ODAPH are causal risk genes for keratoconus.

  PMID 41803193 · PMC13179358 · Scientific reports · 2026 · 8 claims · 8 setups

  Has reproduction · 64

  2,884 differentially expressed genes (DEGs) were identified as the union of upregulated genes from two independent KC transcriptome datasets (GSE151631, GSE77938), enriched in cell adhesion, immune response, and TNF/IL-17 signaling pathways.

  corneal deg gwas eqtl bulk kegg summary-data

• Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.

  PMID 17540169 · PMC4647864 · Cell · 2007 · 8 claims · 13 setups

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  DAPK1 promoter is epigenetically silenced by DNA methylation in almost all sporadic CLL cases

  cd19+ leukemia raji jurkat quantitative cobra chromatin

• Somatic mutation of epidermal growth factor receptor in a small subset of cutaneous squamous cell carcinoma.

  PMID 19812598 · PMC2825112 · The Journal of investigative dermatology · 2010 · 8 claims · 5 setups

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  EGFR is activated by somatic mutation in a small subset of cutaneous SCC

  archival scc sanger array-based fluorescence

• A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.

  PMID 30833571 · PMC6399342 · Nature communications · 2019 · 6 claims · 8 setups

  Has reproduction · 90

  A GWAS of 12,312 CTS cases and 389,344 controls in UK Biobank identifies 16 novel genome-wide significant susceptibility loci for CTS

  biobank surgically gwas transformed genome-wide sequencing gene-based