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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The use of urine proteomic and metabonomic patterns for the diagnosis of interstitial cystitis and bacterial cystitis.
PMID 15258332 · PMC3850593 · Disease markers · 2003 · 6 claims · 2 setups
Urine MS and 1H-NMR spectral patterns can be used to discriminate IC-affected, BC-affected, and unaffected individuals with approximately 84% success rate.
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Has reproduction · 35
Transcriptional firing represses bactericidal activity in cystic fibrosis airway neutrophils.
PMID 33948572 · PMC8080108 · Cell reports. Medicine · 2021 · 8 claims · 8 setups
Neutrophils recruited to CF airways undergo rapid, broad transcriptional firing that upregulates anabolic genes and downregulates antimicrobial genes
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Has reproduction · 75
Single-cell multiomics analysis of chronic myeloid leukemia links cellular heterogeneity to therapy response.
PMID 39503729 · PMC11540304 · eLife · 2024 · 8 claims · 5 setups
CITE-seq multiomics reveals that each CML patient harbors a unique composition of stem and progenitor cells at diagnosis
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Surface-enhanced laser desorption/ionization time-of-flight proteomic profiling of breast carcinomas identifies clinicopathologically relevant groups of patients similar to previously defined clusters from cDNA expression.
PMID 18510725 · PMC2481497 · Breast cancer research : BCR · 2008 · 7 claims · 7 setups
Unsupervised hierarchical clustering of 130 SELDI-TOF peaks yielded six peak clusters and five distinct groups of breast cancer patients.
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Limitations in SELDI-TOF MS whole serum proteomic profiling with IMAC surface to specifically detect colorectal cancer.
PMID 19689818 · PMC2743709 · BMC cancer · 2009 · 7 claims · 3 setups
The previously reported classifier (m/z 8,132 and 4,002) failed to discriminate CRC patients from healthy volunteers in this independent validation cohort
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Has reproduction · 67
CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.
PMID 41056017 · PMC12646653 · The Journal of clinical investigation · 2025 · 8 claims · 8 setups
Heterozygous CDKL1 missense variants (Cys143Arg, Ser206Leu, Thr135Met) were identified in 6 patients from 3 families with TAAD spectrum disorders
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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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The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
PMID 18852351 · PMC2629407 · Archives of neurology · 2008 · 8 claims · 8 setups
GBA mutations are associated with a spectrum of parkinsonian phenotypes ranging from Parkinson disease to Lewy body dementia
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Has reproduction · 84
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups
Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1
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Has reproduction · 70
Circulating mucosal-associated invariant T cells identify patients responding to anti-PD-1 therapy.
PMID 33723257 · PMC7961017 · Nature communications · 2021 · 7 claims · 7 setups
Mucosal-associated invariant T (MAIT) cells are more abundant in the circulation of metastatic melanoma patients who respond to anti-PD-1 therapy than in non-responders, before and during therapy.
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Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
PMID 19890111 · PMC2787406 · The New England journal of medicine · 2009 · 8 claims · 8 setups
Homozygous loss-of-function mutations in IL10RA or IL10RB cause severe early-onset enterocolitis
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Tipping the balance in autoimmune disease.
PMID 18001485 · PMC2246277 · Genome biology · 2007 · 8 claims · 8 setups
Human autoimmune diseases are fundamentally diseases of immune dysfunction, evidenced by predisposing genes being immune-function genes, some shared and some unique across MS, T1D, SLE, CD and RA
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Has reproduction · 58
Intergenic risk variant rs56258221 skews the fate of naive CD4(+) T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis.
PMID 38901430 · PMC11293351 · Cell reports. Medicine · 2024 · 8 claims · 8 setups
rs56258221 (BACH2/MIR4464) associates with a distinct peripheral blood T cell immunophenotype in people with PSC
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Has reproduction
Molecular Epidemiology of Invasive Group B Streptococcus in South Africa, 2019-2020.
PMID 39737783 · PMC11998550 · The Journal of infectious diseases · 2025 · 8 claims · 8 setups
β-lactam antibiotics remain appropriate for treatment of invasive GBS in South Africa, as only 1 isolate showed reduced penicillin susceptibility.
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Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
PMID 20003452 · PMC2801500 · BMC medical genetics · 2009 · 8 claims · 5 setups
TCOF1 transcript levels are significantly reduced (~18%) in leucocytes of TCS patients compared to controls
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Editing of hnRNP K protein mRNA in colorectal adenocarcinoma and surrounding mucosa.
PMID 16404425 · PMC2361188 · British journal of cancer · 2006 · 7 claims · 8 setups
A G274A base substitution in hnRNP K mRNA is present in colorectal tumours and surrounding mucosa but absent from corresponding genomic DNA, indicating an RNA editing event rather than a germline polymorphism.
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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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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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Has reproduction · 37
Antigen and checkpoint receptor engagement recalibrates T cell receptor signal strength.
PMID 34534438 · PMC8585507 · Immunity · 2021 · 6 claims · 7 setups
TCR signal strength drives dynamic, dose- and time-dependent transcriptional changes in CD4+ T cells while single-cell Nr4a3 activation dynamics remain digital/uniform.
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The use of proteomics in biomarker discovery in neurodegenerative diseases.
PMID 15920295 · PMC3850612 · Disease markers · 2005 · 8 claims · 8 setups
A combination of low CSF-β-amyloid(1-42) with high CSF-tau and high CSF-phospho-tau is associated with an AD diagnosis