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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Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.
PMID 17298666 · PMC1805452 · BMC neurology · 2007 · 8 claims · 8 setups
Four unrelated NA patients show a novel erythrocyte membrane defect: 4.1R protein deficiency
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Pharmaco-proteomic study of hydroxyurea-induced modifications in the sickle red blood cell membrane proteome.
PMID 18849548 · PMC4260454 · Experimental biology and medicine (Maywood, N.J.) · 2008 · 6 claims · 6 setups
50 μM HU treatment of SS RBC membranes causes statistically significant changes in a discrete set of membrane proteins, distinct from HbF induction.
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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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iTRAQ-based proteomics profiling reveals increased metabolic activity and cellular cross-talk in angiogenic compared with invasive glioblastoma phenotype.
PMID 19674965 · PMC2773724 · Molecular & cellular proteomics : MCP · 2009 · 6 claims · 5 setups
Serial transplantation of human GBM xenografts in nude rats converts an initially highly infiltrative, non-angiogenic phenotype into a highly angiogenic phenotype over 4-6 generations.
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Cell clusters overlying focally disrupted mammary myoepithelial cell layers and adjacent cells within the same duct display different immunohistochemical and genetic features: implications for tumor progression and invasion.
PMID 14580259 · PMC314413 · Breast cancer research : BCR · 2003 · 7 claims · 4 setups
ER-negative cell clusters are far more likely than ER-positive clusters to overlie disrupted myoepithelial cell layers, both at the case level and the individual-disruption level
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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups
R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity
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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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Has reproduction · 48
Screening of Diagnostic Biomarkers and Immune Infiltration Characteristics Linking Rheumatoid Arthritis and Rosacea Based on Bioinformatics Analysis.
PMID 39104909 · PMC11299729 · Journal of inflammation research · 2024 · 8 claims · 8 setups
277 co-expressed DEGs shared between RA and rosacea are enriched in immune processes and chemokine-mediated signaling pathways
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Has reproduction · 29
CD74 deficiency protects against doxorubicin cardiotoxicity through RRM2-mediated regulation of ferroptosis.
PMID 42180553 · PMC13198236 · Acta pharmaceutica Sinica. B · 2026 · 8 claims · 8 setups
CD74 levels are elevated in plasma of DOX-exposed breast cancer patients and in DOX-challenged mouse hearts and cardiomyocytes
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups
TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI
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Has reproduction · 90
Multi-omic identification of perineurial hyperplasia and lipid-associated nerve macrophages in human polyneuropathies.
PMID 40849297 · PMC12375038 · Nature communications · 2025 · 8 claims · 8 setups
Multi-omic profiling (snRNA-seq + spatial transcriptomics) of human sural nerves identifies novel cell type markers (MLIP in mySC; GRIK3, PRIMA1 in nmSC; CXCL14 in periC) not previously described in rodent or human literature
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A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.
PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups
A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.
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mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice.
PMID 19763141 · PMC2909846 · Journal of human genetics · 2009 · 8 claims · 8 setups
The G10398A cybrid shows slower proliferation and delayed cell cycle progression (G1 accumulation, decreased G2/M) compared to wild-type G10398 cybrid
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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
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
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'Classical' but not 'other' mutations of EGFR kinase domain are associated with clinical outcome in gefitinib-treated patients with non-small cell lung cancer.
PMID 18000506 · PMC2360265 · British journal of cancer · 2007 · 8 claims · 4 setups
'Classical' EGFR mutations (exon 18 G719X, exon 19 DEL19, exon 21 L858R) are associated with better clinical outcome (disease control) with gefitinib
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Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.
PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups
Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes
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Proteomics studies reveal important information on small molecule therapeutics: a case study on plasma proteins.
PMID 18973825 · PMC7185545 · Drug discovery today · 2008 · 8 claims · 8 setups
Abundant plasma proteins (albumin, IgG, transferrin) act as 'molecular sponges' that bind and transport low molecular weight proteins/peptides and drugs, extending their half-life by preventing rapid renal clearance.
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The diagnosis and management of pre-invasive breast disease: promise of new technologies in understanding pre-invasive breast lesions.
PMID 14580250 · PMC314415 · Breast cancer research : BCR · 2003 · 8 claims · 8 setups
ADH and ductal carcinoma in situ (DCIS) are precursor lesions molecularly similar to adjacent invasive breast cancer
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Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
PMID 15665393 · PMC3839340 · Disease markers · 2004 · 8 claims · 4 setups
An intron-5/exon-6 splice acceptor mutation in TGM1, detectable by MspI digestion, was identified in two Egyptian families at a frequency of 9.6% (5/52 alleles)
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Improvements to cardiovascular gene ontology.
PMID 19046747 · PMC2706316 · Atherosclerosis · 2009 · 8 claims · 8 setups
Gene Ontology (GO) provides a controlled vocabulary that links current functional knowledge of genes to high-throughput genomic and proteomic datasets, aiding data interpretation.