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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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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Interspecies diversity of the occludin sequence: cDNA cloning of human, mouse, dog, and rat-kangaroo homologues.
PMID 8601611 · PMC2120780 · The Journal of cell biology · 1996 · 8 claims · 7 setups
Full-length cDNAs encoding occludin were cloned and sequenced from rat-kangaroo (potoroo), human, mouse, and dog
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Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
PMID 16934001 · PMC1550284 · PLoS genetics · 2006 · 7 claims · 6 setups
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
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Intracellular sorting and targeting of melanosomal membrane proteins: identification of signals for sorting of the human brown locus protein, gp75.
PMID 7642699 · PMC2199968 · The Journal of cell biology · 1995 · 7 claims · 7 setups
The 36-amino acid cytoplasmic tail of gp75 alone is sufficient to direct intracellular retention and targeting of chimeric CD8 proteins to the endosomal/lysosomal compartment in fibroblasts
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Gene Ontology annotations: what they mean and where they come from.
PMID 18460184 · PMC2367625 · BMC bioinformatics · 2008 · 7 claims · 3 setups
A GO annotation is a formal statement linking a gene product type to a molecular function, biological process, or cellular component type, based on experimental observations or inferences.
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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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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients
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Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma.
PMID 19654294 · PMC2754824 · Cancer research · 2009 · 8 claims · 7 setups
Secondary BRCA2 mutations restore BRCA2 protein/reading frame and thereby cause acquired platinum and PARP inhibitor resistance in BRCA2-mutated ovarian carcinoma
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Mutational analysis of p80 coilin indicates a functional interaction between coiled bodies and the nucleolus.
PMID 7490287 · PMC2200013 · The Journal of cell biology · 1995 · 8 claims · 7 setups
p80 coilin plays an important role in subnuclear organization and there is a functional interaction between coiled bodies and nucleoli
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Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.
PMID 18949062 · PMC2571945 · Molecular vision · 2008 · 8 claims · 5 setups
Truncating (nonsense/frameshift) mutations in NHS cause Nance-Horan syndrome by prematurely terminating the protein
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An oncogenomics-based in vivo RNAi screen identifies tumor suppressors in liver cancer.
PMID 19012953 · PMC2990916 · Cell · 2008 · 7 claims · 8 setups
shRNA pools targeting genes recurrently deleted in human HCC accelerate hepatocarcinogenesis in vivo, whereas randomly selected shRNA pools do not.
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Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients.
PMID 18626973 · PMC2570015 · Annals of neurology · 2008 · 8 claims · 8 setups
Clinical features of Dok-7 myasthenia are highly variable, ranging from mild static limb-girdle weakness to severe generalized progressive disease
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Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.
PMID 18424447 · PMC2465800 · Human molecular genetics · 2008 · 6 claims · 8 setups
Nonsense-mediated mRNA decay (NMD) degrades mutant SOD1 mRNA carrying a PTC in non-terminal exons (1-4), explaining why ALS-associated PTC mutations are found only in exon 5
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Targeted disruption of the S1P2 sphingosine 1-phosphate receptor gene leads to diffuse large B-cell lymphoma formation.
PMID 19903857 · PMC2973841 · Cancer research · 2009 · 8 claims · 8 setups
S1P2−/− mice develop clonal B-cell lymphomas with age, with ~half affected by 1.5-2 years
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Somatic mutations of the Parkinson's disease-associated gene PARK2 in glioblastoma and other human malignancies.
PMID 19946270 · PMC4002225 · Nature genetics · 2010 · 8 claims · 8 setups
PARK2 is a frequently and specifically targeted gene within recurrent 6q25.2-q27 copy number losses in glioblastoma and colon cancer