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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Stable patterns of gene expression regulating carbohydrate metabolism determined by geographic ancestry.
PMID 20016837 · PMC2790609 · PloS one · 2009 · 8 claims · 6 setups
151 'geo-ancestral genes' were identified that are both differentially expressed between AA and CAU subjects and contain SNPs distinguishing YRI (African) from CEU (European) HapMap populations
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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
PMID 19921648 · PMC2787970 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
SOX2 coding-region mutations were identified in 10 of 51 (19.6%) unrelated individuals with anophthalmia/microphthalmia
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Urinary proteomic profiling for diagnostic bladder cancer biomarkers.
PMID 19811072 · PMC3422861 · Expert review of proteomics · 2009 · 8 claims · 8 setups
Single protein biomarkers (e.g., NMP-22, BTA) suffer from high false-positive rates and none have replaced cystoscopy or cytology for bladder cancer detection.
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Mouse-specific tandem IgY7-SuperMix immunoaffinity separations for improved LC-MS/MS coverage of the plasma proteome.
PMID 19722698 · PMC2783519 · Journal of proteome research · 2009 · 7 claims · 6 setups
Tandem IgY7-SuperMix separation nearly doubles overall proteome coverage compared to IgY7 flow-through alone (523 vs 263 confidently identified proteins)
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Identification of Key Genes in Atherosclerosis by Combined DNA Methylation and miRNA Expression Analyses.
PMID 35949126 · PMC9682560 · Anatolian journal of cardiology · 2022 · 7 claims · 7 setups
10 key genes (TCF7L2, CACNA1C, NRP1, GABBR2, FANCC, DCK, CCDC88C, TCF12, ABLIM1, PBX1) are regulated by both aberrant DNA methylation and miRNA activity in atherosclerosis
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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups
Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472
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Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.
PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups
CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations
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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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Mutation survey of known LCA genes and loci in the Saudi Arabian population.
PMID 18936139 · PMC2695987 · Investigative ophthalmology & visual science · 2009 · 7 claims · 4 setups
Mutations in the 13 known LCA genes were identified in only 24% (9/37) of Saudi Arabian LCA families, far lower than the ~65% mutation detection rate reported in European populations
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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.
PMID 18203199 · PMC2578871 · American journal of medical genetics. Part A · 2008 · 6 claims · 8 setups
Two novel homozygous missense mutations in BBS5 (p.Gly72Ser and p.Thr183Ala) were identified in non-Caucasian BBS patients (Somali and Sri Lankan)
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A simple and efficient algorithm for genome-wide homozygosity analysis in disease.
PMID 19756043 · PMC2758715 · Molecular systems biology · 2009 · 8 claims · 4 setups
A genome-wide AH analysis (GAHA) algorithm can identify disease-associated loci by comparing frequencies of homozygous segments between cases and controls using a z-statistic proportion test
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Involvement of potential pathways in malignant transformation from oral leukoplakia to oral squamous cell carcinoma revealed by proteomic analysis.
PMID 19691830 · PMC2746235 · BMC genomics · 2009 · 7 claims · 6 setups
85 proteins are differentially and consistently expressed (>2-fold change, P<0.05) between paired OLK and OSCC tissues, including 52 up-regulated and 33 down-regulated proteins
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Evaluating Distribution and Prognostic Value of New Tumor-Infiltrating Lymphocytes in HCC Based on a scRNA-Seq Study With CIBERSORTx.
PMID 33043022 · PMC7527443 · Frontiers in medicine · 2020 · 6 claims · 8 setups
CIBERSORTx can combine scRNA-seq-derived signature matrices with bulk RNA-seq data to estimate proportions of 11 TIL subsets in HCC tumor and normal tissue
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Pathway analysis for intracellular Porphyromonas gingivalis using a strain ATCC 33277 specific database.
PMID 19723305 · PMC2753363 · BMC microbiology · 2009 · 8 claims · 5 setups
Using the ATCC 33277-specific genome annotation improves proteome coverage (more proteins identified and more abundance ratios calculated) compared to the W83 annotation
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Advancement of biomarker discovery and validation through the HUPO plasma proteome project.
PMID 15502245 · PMC3839274 · Disease markers · 2004 · 7 claims · 3 setups
Standardization of specimen collection, handling, storage, and choice of serum vs. plasma/anticoagulant is essential for comparable proteomic biomarker discovery.
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Genomic rearrangements by LINE-1 insertion-mediated deletion in the human and chimpanzee lineages.
PMID 16034026 · PMC1179734 · Nucleic acids research · 2005 · 8 claims · 6 setups
L1 insertions are directly responsible for genomic deletions (L1IMDs) confirmed in both human and chimpanzee genomes
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ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.
PMID 18465152 · PMC2441586 · Neurogenetics · 2008 · 8 claims · 8 setups
37% (16/43) of Dutch index patients with early-onset recessive cerebellar ataxia carry SACS mutations, indicating ARSACS is far more frequent than previously estimated
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Multidimensional proteomics analysis of amniotic fluid to provide insight into the mechanisms of idiopathic preterm birth.
PMID 18431506 · PMC2315798 · PloS one · 2008 · 7 claims · 7 setups
A novel 5-peak SELDI proteomic signature (Q-profile) in the 10-12.5 kDa mass range identifies a subgroup of women at risk for preterm birth without intra-amniotic inflammation or bleeding.
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Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups
16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis
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BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups
BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing