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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Functional analysis of human mutations in homeodomain transcription factor PITX3.
PMID 17888164 · PMC2093940 · BMC molecular biology · 2007 · 7 claims · 5 setups
Both S13N and G219fs mutants show partial loss-of-function in DNA-binding and/or transactivation activity, with G219fs more severely affected than S13N
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Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.
PMID 19698114 · PMC2749045 · BMC infectious diseases · 2009 · 8 claims · 7 setups
Three PRNP mutations—D178N, E200K, and M232R—were identified in heterozygosity in Korean probable CJD patients, marking their first report in this population.
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Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
PMID 19753315 · PMC2742642 · Molecular vision · 2009 · 8 claims · 5 setups
Wild-type HA-tagged CLRN1 is correctly trafficked to the plasma membrane in transfected BHK-21 cells
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Has reproduction · 71
Harnessing secretory pathway differences between HEK293 and CHO to rescue production of difficult to express proteins.
PMID 35301123 · PMC9189052 · Metabolic engineering · 2022 · 8 claims · 7 setups
Swapping expression host from CHO to HEK293 improves secreted titers for roughly one third of difficult-to-express human proteins
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Activation-induced cytidine deaminase acts as a mutator in BCR-ABL1-transformed acute lymphoblastic leukemia cells.
PMID 17485517 · PMC2118573 · The Journal of experimental medicine · 2007 · 8 claims · 8 setups
AID mRNA is aberrantly expressed in Ph+ ALL but largely absent in Ph- ALL
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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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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
Expression of SARS-CoV E protein in mammalian cells alters membrane permeability
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Protein isoaspartate methyltransferase prevents apoptosis induced by oxidative stress in endothelial cells: role of Bcl-Xl deamidation and methylation.
PMID 18806875 · PMC2532751 · PloS one · 2008 · 8 claims · 8 setups
PCMT overexpression protects porcine aortic endothelial cells (PAEC) from H2O2-induced apoptosis, raising the threshold H2O2 concentration required to trigger cell death.
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Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.
PMID 18362173 · PMC2292215 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Somatic JAK1 mutations occur in ALL and are more prevalent among adult T-cell precursor ALL (T-ALL) than B-ALL
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups
A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.
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Ancient variation of the AvrPm17 gene in powdery mildew limits the effectiveness of the introgressed rye Pm17 resistance gene in wheat.
PMID 35857869 · PMC9335242 · Proceedings of the National Academy of Sciences of the United States of America · 2022 · 6 claims · 8 setups
AvrPm17 is encoded by a paralogous, tandemly duplicated effector gene pair located in a pericentromeric, mildew sublineage-specific effector cluster (family E003) showing signs of recurring gene conversion.
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Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
PMID 16652333 · PMC1828612 · Human mutation · 2006 · 7 claims · 6 setups
FBLN5 missense mutations are associated with ARMD in a European (UK/Dutch) cohort, confirming prior US findings
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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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A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups
The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.
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A global proteomics approach identifies novel phosphorylated signaling proteins in GPVI-activated platelets: involvement of G6f, a novel platelet Grb2-binding membrane adapter.
PMID 16941570 · PMC1869047 · Proteomics · 2006 · 8 claims · 7 setups
96 proteins undergo post-translational modification (phosphorylation) in response to CRP stimulation of human platelets, including 11 proteins not previously identified in platelets
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Functional role of the KLF6 tumour suppressor gene in gastric cancer.
PMID 19101139 · PMC2970616 · European journal of cancer (Oxford, England : 1990) · 2009 · 7 claims · 8 setups
The KLF6 locus undergoes loss of heterozygosity (LOH) in a majority of gastric cancer samples and is associated with advanced tumour stage
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Proteomics identification of nuclear Ran GTPase as an inhibitor of human VRK1 and VRK2 (vaccinia-related kinase) activities.
PMID 18617507 · PMC2577208 · Molecular & cellular proteomics : MCP · 2008 · 8 claims · 8 setups
Nuclear Ran GTPase was identified by mass spectrometry as a novel interacting partner of VRK1 and VRK2B
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Direct resequencing of the complete ERBB2 coding sequence reveals an absence of activating mutations in ERBB2 amplified breast cancer.
PMID 18418848 · PMC6668724 · Genes, chromosomes & cancer · 2008 · 6 claims · 5 setups
Emulsion PCR combined with picotiter plate pyrosequencing (454 sequencing) enables high-resolution, high-throughput detection of low-frequency sequence variants among the many individual copies of an amplified gene.
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A novel germline mutation of PTEN associated with brain tumours of multiple lineages.
PMID 12085208 · PMC2746590 · British journal of cancer · 2002 · 8 claims · 6 setups
A novel heterozygous germline PTEN mutation (Arg234Gln, R234Q) was identified in a patient with glioma and prior meningioma