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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Has reproduction · 80
The Cohesin Ring Uses Its Hinge to Organize DNA Using Non-topological as well as Topological Mechanisms.
PMID 29754816 · PMC6371919 · Cell · 2018 · 8 claims · 8 setups
Sister chromatid cohesion is mediated by co-entrapment of both sister DNAs inside a single hetero-trimeric cohesin ring, perfectly correlating CD formation with cohesion
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Has reproduction · 55
Arabidopsis RBV is a conserved WD40 repeat protein that promotes microRNA biogenesis and ARGONAUTE1 loading.
PMID 35260568 · PMC8904849 · Nature communications · 2022 · 7 claims · 8 setups
RBV, a WD40 repeat protein, is required for global microRNA biogenesis in Arabidopsis
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Incidence of mutation and deletion in topoisomerase II alpha mRNA of etoposide and mAMSA-resistant cell lines.
PMID 11676865 · PMC5926608 · Japanese journal of cancer research : Gann · 2001 · 7 claims · 6 setups
Acquired mutations of the topoisomerase IIα gene are an important and frequent mechanism of resistance to topoisomerase II inhibitors, independent of the degree of resistance.
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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
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)
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Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
PMID 19122847 · PMC2585750 · Circulation. Arrhythmia and electrophysiology · 2008 · 7 claims · 5 setups
A missense R99H mutation in KCNE3 was identified in a Brugada Syndrome proband and cosegregates with the phenotype in the family (4/4 phenotype-positive, 0/3 phenotype-negative members carried it)
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Determination of Ras-GTP and Ras-GDP in patients with acute myelogenous leukemia (AML), myeloproliferative syndrome (MPS), juvenile myelomonocytic leukemia (JMML), acute lymphocytic leukemia (ALL), and malignant lymphoma: assessment of mutational and indirect activation.
PMID 18784923 · PMC2755762 · Annals of hematology · 2009 · 6 claims · 4 setups
A non-radioactive, enzyme-coupled luminometric assay can quantify Ras activation as %GTP/(GTP+GDP) with high sensitivity (detects 1 fmol GTP)
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Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.
PMID 20011602 · PMC2788243 · PloS one · 2009 · 8 claims · 8 setups
A novel heterozygous Trp1197Stop (W1197X) mutation in the ACE gene causes a 13-fold increase in blood ACE activity in an African-American family
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Has reproduction
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
HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition
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Backseat drivers take the wheel.
PMID 18068625 · PMC2705833 · Cancer cell · 2007 · 8 claims · 8 setups
Systematic resequencing combined with functional validation can distinguish rare driver FLT3 mutations from passenger mutations in AML patients negative for known activating mutations
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A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.
PMID 18628483 · PMC2561321 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 6 claims · 7 setups
A novel heterozygous BRIP1 germline mutation (c.2992-2995delAAGA) was identified in a breast cancer patient, causing a frameshift and premature stop codon in exon 20.
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The changing face of genomics.
PMID 15128443 · PMC416465 · Genome biology · 2004 · 8 claims · 8 setups
Genome-wide ChIP-chip mapping of ~200 yeast transcriptional regulators across environmental conditions reveals general principles of promoter architecture and regulatory response types
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Has reproduction · 91
GRAMD1B is a regulator of lipid homeostasis, autophagic flux and phosphorylated tau.
PMID 40204713 · PMC11982250 · Nature communications · 2025 · 8 claims · 7 setups
GRAMD1B is increased in excitatory neurons of human neural organoids (HNOs) carrying the MAPT R406W mutation
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Mutations in the focal adhesion targeting region of deleted in liver cancer-1 attenuate their expression and function.
PMID 18829524 · PMC2597479 · Cancer research · 2008 · 8 claims · 6 setups
The DLC-1 fragment spanning residues 201-500 is sufficient for focal adhesion targeting (FAT region)
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MSH6 missense mutations are often associated with no or low cancer susceptibility.
PMID 15354210 · PMC2409912 · British journal of cancer · 2004 · 7 claims · 8 setups
Most MSH6 missense changes found in MSI-positive tumours are likely clinically innocent or of low cancer-susceptibility significance
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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups
All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix
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Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.
PMID 1694220 · PMC2188166 · The Journal of experimental medicine · 1990 · 8 claims · 8 setups
Patient 14 (moderate phenotype) carries a C-to-T substitution at nucleotide 517 of the beta subunit cDNA, changing amino acid 149 from leucine to proline
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Cohesin regulates alternative splicing.
PMID 36857449 · PMC9977177 · Science advances · 2023 · 7 claims · 8 setups
Cohesin regulates alternative splicing independently of its effects on transcription.
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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
α1-antitrypsin is a novel ERGIC-53 cargo protein identified via a YFP protein-fragment complementation assay (PCA) cDNA library screen
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A combination of genomic approaches reveals the role of FOXO1a in regulating an oxidative stress response pathway.
PMID 18301748 · PMC2244703 · PloS one · 2008 · 8 claims · 7 setups
FOXO1a mRNA and protein expression are elevated in human liver compared to chimpanzee liver
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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)