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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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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Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
PMID 20057906 · PMC2802294 · Molecular vision · 2009 · 7 claims · 4 setups
Screening of 32 Chinese patients with microphthalmia and/or coloboma across ten candidate genes revealed no clearly causative mutation.
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Sequence variations of GRM6 in patients with high myopia.
PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups
Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls
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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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Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.
PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups
Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC
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Has reproduction · 100
Differential Gene Expression and Methylation Analysis of Melanoma in TCGA Database to Further Study the Expression Pattern of KYNU in Melanoma.
PMID 35893303 · PMC9329910 · Journal of personalized medicine · 2022 · 8 claims · 8 setups
KYNU expression is decreased in melanoma despite a high KYNU mutation rate in the TCGA database
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Has reproduction · 59
Downregulation of Splicing Factor PTBP1 Curtails FBXO5 Expression to Promote Cellular Senescence in Lung Adenocarcinoma.
PMID 39057099 · PMC11276454 · Current issues in molecular biology · 2024 · 8 claims · 8 setups
PTBP1 is significantly upregulated across multiple cancer types including LUAD, and higher PTBP1 levels are associated with worse LUAD patient survival
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Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.
PMID 10389971 · PMC2363009 · British journal of cancer · 1999 · 6 claims · 5 setups
Microsatellite instability is common in sporadic pancreatic cancer but occurs at a uniformly low rate and is not accompanied by hMLH1/hMSH2 alterations, suggesting it does not drive pancreatic tumorigenesis.
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p53 mutations in urinary bladder cancer.
PMID 11384101 · PMC2363660 · British journal of cancer · 2001 · 6 claims · 5 setups
p53 mutations are strongly associated with high-grade/high-stage bladder tumors and are nearly absent in lowly malignant tumors (Ta, G1-G2a)
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A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups
The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541
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Biomarkers of lupus nephritis determined by serial urine proteomics.
PMID 18596723 · PMC2614389 · Kidney international · 2008 · 7 claims · 6 setups
SELDI-TOF-MS screening of the LMW urine proteome identifies protein ions that are differentially expressed across phases of the lupus nephritis flare cycle (baseline, pre-flare, flare, post-flare)
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Has reproduction · 89
Inference of Subpathway Activity Profiles Reveals Metabolism Abnormal Subpathway Regions in Glioblastoma Multiforme.
PMID 33072547 · PMC7533644 · Frontiers in oncology · 2020 · 7 claims · 8 setups
A metabolic subpathway activity score matrix method combining the k-clique algorithm and GSVA can accurately identify disease-related metabolic abnormal subpathways in GBM
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Has reproduction · 80
Bisulfite sequencing of chromatin immunoprecipitated DNA (BisChIP-seq) directly informs methylation status of histone-modified DNA.
PMID 22466171 · PMC3371705 · Genome research · 2012 · 8 claims · 8 setups
BisChIP-seq — bisulfite sequencing of chromatin immunoprecipitated DNA — enables direct genome-wide, base-resolution interrogation of DNA methylation on histone-modified DNA molecules
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Schistosoma mansoni secretes a chemokine binding protein with antiinflammatory activity.
PMID 16301741 · PMC2212990 · The Journal of experimental medicine · 2005 · 8 claims · 8 setups
S. mansoni eggs secrete a chemokine binding protein (smCKBP) that binds certain chemokines and inhibits their interaction with host chemokine receptors and biological activity
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Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups
All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism
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Genome-wide analysis of antisense transcription with Affymetrix exon array.
PMID 18211689 · PMC2257944 · BMC genomics · 2008 · 8 claims · 4 setups
A modified cDNA synthesis protocol (ATE: Antisense Transcriptome analysis using Exon array), which skips the first-cycle cDNA synthesis and IVT amplification step, labels cDNA in reverse orientation, enabling Exon arrays to detect antisense transcripts
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Locus-specific and activity-independent gene repositioning during early tumorigenesis.
PMID 18195100 · PMC2213600 · The Journal of cell biology · 2008 · 7 claims · 6 setups
The genome undergoes global spatial reorganization during both normal and tumorigenic mammary epithelial differentiation, as shown by reduced nucleolar number.
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A method for accurate detection of genomic microdeletions using real-time quantitative PCR.
PMID 16351727 · PMC1327677 · BMC genomics · 2005 · 8 claims · 5 setups
A qPCR method using unique-sequence primers can reproducibly detect chromosomal microdeletions and microduplications
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Tumor suppressor in lung cancer 1 (TSLC1) alters tumorigenic growth properties and gene expression.
PMID 16083501 · PMC1208945 · Molecular cancer · 2005 · 8 claims · 8 setups
Restoration of TSLC1 expression in A549 cells (yielding the 12.2 line) suppresses tumorigenic growth, markedly reducing cell expansion/proliferation rate.
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Current and future directions in genomics of amyotrophic lateral sclerosis.
PMID 18625410 · PMC3524513 · Physical medicine and rehabilitation clinics of North America · 2008 · 8 claims · 8 setups
Familial ALS (FALS, 5-10% of cases) follows Mendelian autosomal dominant inheritance, with 20% caused by SOD1 mutations and 80% by unknown mutations