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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Clues to the etiology of autoimmune diseases through analysis of immunoglobulin genes.
PMID 11879542 · PMC128918 · Arthritis research · 2002 · 8 claims · 6 setups
Antibody sequences that violate normal ontogenic/developmental constraints indicate a failure of B-cell regulation
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Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.
PMID 19649643 · PMC3104467 · Acta neuropathologica · 2010 · 8 claims · 8 setups
GRN transcript haploinsufficiency, previously shown in blood-derived cells, does not hold in most brain regions of GRN mutation carriers
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The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.
PMID 19050890 · PMC2690858 · Annals of hematology · 2009 · 7 claims · 7 setups
HBG2:g.-109G>T is a novel promoter mutation causing a distinct ('Hellenic type') nd-HPFH
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Has reproduction · 74
Enforced MYC expression directs a distinct transcriptional state during plasma cell differentiation.
PMID 40721291 · PMC12305944 · Life science alliance · 2025 · 8 claims · 7 setups
Acute MYC (T58I) and BCL2 overexpression drives an aberrant B-cell differentiation phenotype with altered surface marker expression while functional antibody secretion is retained
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Has reproduction · 84
Monocytes serve as Shiga toxin carriers during the development of hemolytic uremic syndrome.
PMID 39871175 · PMC11773931 · Cellular & molecular biology letters · 2025 · 8 claims · 8 setups
Monocytes are the primary carriers that transport Stx2 from the periphery to the kidney during STEC-induced HUS
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Elevated serum levels of interferon-regulated chemokines are biomarkers for active human systemic lupus erythematosus.
PMID 17177599 · PMC1702557 · PLoS medicine · 2006 · 8 claims · 4 setups
30 of 160 measured serum analytes (cytokines, chemokines, growth factors, soluble receptors) are dysregulated in SLE serum
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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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Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
PMID 18302728 · PMC2291454 · BMC medical genetics · 2008 · 8 claims · 8 setups
Functional assays of TSC1–TSC2 complex activity can distinguish pathogenic TSC2 mutations from rare polymorphisms when multiple variants segregate in one family
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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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The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups
The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)
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Identification of HLA-DRPhebeta47 as the susceptibility marker of hypersensitivity to beryllium in individuals lacking the berylliosis-associated supratypic marker HLA-DPGlubeta69.
PMID 16098233 · PMC1198259 · Respiratory research · 2005 · 7 claims · 4 setups
HLA-DPGlu69 is the primary marker of Be-hypersensitivity, present at higher frequency in berylliosis patients than in Be-sensitized subjects and Be-exposed controls
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Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.
PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups
CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID
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Deconvoluting the 'omics' for organ transplantation.
PMID 19644370 · PMC2993238 · Current opinion in organ transplantation · 2009 · 8 claims · 5 setups
High-throughput 'omic' technologies (genomics, proteomics, metabolomics, antibiomics) can uncover novel biomarkers for acute rejection, chronic rejection, and operational tolerance without a priori pathway bias
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Development of a Premature Stop Codon-detection method based on a bacterial two-hybrid system.
PMID 16948859 · PMC1569827 · BMC biotechnology · 2006 · 7 claims · 7 setups
pREAL, fusing cya fragments T25 and T18 around a cloning site, produces catalytically active adenylate cyclase only when the inserted human DNA lacks a PSC
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Has reproduction · 76
Lamin C is required to establish genome organization after mitosis.
PMID 34775987 · PMC8591896 · Genome biology · 2021 · 7 claims · 6 setups
Lamin C, and not lamin A or lamin B1, is required for LAD:LAD cohesion, retention of LADs near the nuclear envelope, and overall chromosome territory organization.
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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