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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A novel approach for determining cancer genomic breakpoints in the presence of normal DNA.
PMID 17440616 · PMC1847701 · PloS one · 2007 · 8 claims · 6 setups
PAMP enriches deletion-breakpoint-spanning DNA because shorter mutant amplicons are preferentially amplified over much longer wild-type sequences when using approximated flanking primer pairs.
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Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups
Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma
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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups
A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T
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The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.
PMID 17449949 · PMC2693607 · Journal of Korean medical science · 2007 · 7 claims · 5 setups
This is the first reported Korean case of Beare-Stevenson syndrome.
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Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
PMID 16597330 · PMC1456953 · BMC medical genetics · 2006 · 8 claims · 5 setups
Three novel RP1 truncating mutations (Gln686Ter, Lys705fsX712, Lys722fsX737) cause adRP
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Large-scale analysis of mutations in RET exon 16 in sporadic medullary thyroid carcinomas in Japan.
PMID 11429053 · PMC5926749 · Japanese journal of cancer research : Gann · 2001 · 5 claims · 4 setups
RET exon 16 (codon 918) somatic mutations are rare in sporadic MTC among Japanese patients
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Application of single molecule technology to rapidly map long DNA and study the conformation of stretched DNA.
PMID 16243782 · PMC1266062 · Nucleic acids research · 2005 · 7 claims · 4 setups
DLA can generate a high signal-to-noise bisPNA binding-site map of the 185.1 kb BAC 12M9 using as few as 200 molecule traces
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Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).
PMID 18846391 · PMC3155267 · Pediatric nephrology (Berlin, Germany) · 2009 · 8 claims · 5 setups
No UMOD mutations were identified in 96 patients with CAKUT after full mutation screening
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Mutation analysis of the AATF gene in breast cancer families.
PMID 20025740 · PMC2806411 · BMC cancer · 2009 · 6 claims · 6 setups
No AATF sequence alteration identified was predicted to be pathogenic or showed significant association with breast cancer risk
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A proteomic strategy to identify novel serum biomarkers for liver cirrhosis and hepatocellular cancer in individuals with fatty liver disease.
PMID 19656391 · PMC2729079 · BMC cancer · 2009 · 8 claims · 4 setups
2D gel proteomic profiling of immunodepleted serum reveals protein spot patterns that differentiate pre-cirrhotic NAFLD, cirrhotic NAFLD, and cirrhotic NAFLD with HCC
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Somatic mutations of KIT in familial testicular germ cell tumours.
PMID 15150569 · PMC2410291 · British journal of cancer · 2004 · 6 claims · 3 setups
No germline KIT mutations were found in constitutional DNA from 240 familial TGCT pedigrees
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Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer.
PMID 16620376 · PMC1459869 · BMC cancer · 2006 · 8 claims · 3 setups
Somatic mtDNA mutations are frequent in esophageal cancer, found in 55% (11/20) of tumors analyzed
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TP53 mutation analyses on breast carcinomas: a study of paraffin-embedded archival material.
PMID 8761369 · PMC2074687 · British journal of cancer · 1996 · 8 claims · 8 setups
CDGE can be used to successfully detect TP53 mutations (exons 5-8) in DNA extracted from archival paraffin-embedded breast carcinoma tissue
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Mutation analysis of the ATR gene in breast and ovarian cancer families.
PMID 15987455 · PMC1175065 · Breast cancer research : BCR · 2005 · 8 claims · 5 setups
ATR mediates the DNA damage response by phosphorylating tumor suppressors such as p53, BRCA1 and CHK1, making it a plausible candidate breast/ovarian cancer susceptibility gene
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Detection of venous thromboembolism by proteomic serum biomarkers.
PMID 17579716 · PMC1891085 · PloS one · 2007 · 5 claims · 8 setups
A neural network-based classifier built from direct MALDI-TOF MS serum protein expression profiles can diagnose VTE with sensitivity/specificity that exceeds D-dimer assays
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Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups
Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients
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Mechanisms of relapse in acute leukaemia: involvement of p53 mutated subclones in disease progression in acute lymphoblastic leukaemia.
PMID 10098750 · PMC2362216 · British journal of cancer · 1999 · 6 claims · 4 setups
p53 mutations are detected at relapse far more frequently in ALL (28.6%) than in AML (7.3%)
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From genomes to systems.
PMID 15535877 · PMC545775 · Genome biology · 2004 · 8 claims · 8 setups
Biological networks (protein-gene interactions in the genome, protein-protein interactions in the proteome, biochemical reactions in the metabolome) are scale-free rather than random
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Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection.
PMID 16102740 · PMC7124242 · Clinica chimica acta; international journal of clinical chemistry · 2006 · 6 claims · 7 setups
The Luminex xMAP system uses spectrally distinct dyed microspheres (up to 100 sets) read by dual lasers to enable simultaneous multiplexed analysis of up to 100 reactions in one vessel.
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A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.
PMID 17596670 · PMC2693654 · Journal of Korean medical science · 2007 · 7 claims · 7 setups
The propositus shows mixed-field agglutination with anti-B that mimics the B3 ABO subtype but is not caused by a B3 allele.