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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Detection of p53 mutations in precancerous gastric tissue.
PMID 14520466 · PMC2394306 · British journal of cancer · 2003 · 8 claims · 6 setups
p53 mutations can be detected in precancerous gastritis and intestinal metaplasia tissue using the restriction site mutation (RSM) assay
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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups
21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.
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Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).
PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups
MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments
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The DNA sequence of the human X chromosome.
PMID 15772651 · PMC2665286 · Nature · 2005 · 8 claims · 8 setups
The euchromatic sequence of the human X chromosome was determined to 99.3% completeness (~155 Mb total)
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Microarray-based DNA methylation profiling: technology and applications.
PMID 16428248 · PMC1345696 · Nucleic acids research · 2006 · 7 claims · 6 setups
A microarray-based method enriching unmethylated and methylated DNA fractions via methylation-sensitive restriction enzymes followed by hybridization enables high-throughput DNA methylation profiling of large genomic regions.
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Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis.
PMID 17456229 · PMC1868706 · BMC medical genetics · 2007 · 7 claims · 4 setups
No mutations were identified in the VEGFR2 gene (exons 7, 18, 21, 27, promoter, or 5' UTR) in ALS patients
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Alternative splicing and bioinformatic analysis of human U12-type introns.
PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups
The long, evolutionarily conserved polypyrimidine (Py) tract of the JNK2 U2-U12 hybrid intron provides the signal for default inclusion of the downstream alternative exon 6b in non-neuronal cells
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Description of a PCR-based technique for DNA splicing and mutagenesis by producing 5' overhangs with run through stop DNA synthesis utilizing Ara-C.
PMID 16137330 · PMC1208860 · BMC biotechnology · 2005 · 7 claims · 7 setups
Two adjacent Ara-C molecules incorporated into a PCR primer produce mild template-dependent polymerization termination, generating 5' overhangs usable for cohesive-end ligation.
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Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli.
PMID 17012280 · PMC1636463 · Nucleic acids research · 2006 · 7 claims · 5 setups
DSBs induced at the TRS/vector junction (EcoRV site) generate numerous mutagenic events in flanking sequences, whereas DSBs within the repeat tract (EcoRI site) produce no such mutants
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V-MitoSNP: visualization of human mitochondrial SNPs.
PMID 16907992 · PMC1564046 · BMC bioinformatics · 2006 · 6 claims · 4 setups
V-MitoSNP integrates RFLP genotyping information with mitochondria-related cancer/disease data in a user-friendly, interactive, color-coded visual web interface
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Detection of atovaquone-proguanil resistance conferring mutations in Plasmodium falciparum cytochrome b gene in Luanda, Angola.
PMID 16597338 · PMC1513587 · Malaria journal · 2006 · 6 claims · 4 setups
No pfcytb mutations associated with atovaquone-proguanil treatment failure (codon 268 wild type, T802A, A803C) were found in the Luanda study population.
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DNA sequencing: bench to bedside and beyond.
PMID 17855400 · PMC2094077 · Nucleic acids research · 2007 · 8 claims · 7 setups
DNA sequencing methods derived from Sanger's 1977 dideoxy method have dominated sequencing for 30 years despite being only incrementally refined.
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MDM2 overexpression with alteration of the p53 protein and gene status in oral carcinogenesis.
PMID 10835493 · PMC5926374 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups
MDM2 and p53 protein expression significantly increase in accordance with histological progression from normal mucosa to dysplasia to SCC.
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Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.
PMID 10780518 · PMC2363369 · British journal of cancer · 2000 · 8 claims · 4 setups
Germline mutations of STK11 were found in 5 of 10 Korean PJS patients screened
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New approaches to the analysis of palindromic sequences from the human genome: evolution and polymorphism of an intronic site at the NF1 locus.
PMID 16340004 · PMC1310899 · Nucleic acids research · 2005 · 7 claims · 8 setups
Long pure palindromes (>~200 bp) cannot be stably cloned in E.coli due to cruciform-driven instability, and no E.coli mutant fully overcomes this cloning block.
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Differentiating human from animal isolates of Cryptosporidium parvum.
PMID 9866750 · PMC2640237 · Emerging infectious diseases · 1998 · 7 claims · 5 setups
Two distinct genotypes of C. parvum (human/anthroponotic and bovine/zoonotic) exist, distinguishable by TRAP-C2 gene sequence differences at five nucleotide positions.
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p53 mutation is a poor prognostic indicator for survival in patients with hepatocellular carcinoma undergoing surgical tumour ablation.
PMID 9514057 · PMC2149958 · British journal of cancer · 1998 · 8 claims · 6 setups
p53 mutations were found in 8 of 12 HCCs with cirrhosis due to viral hepatitis and in both patients with sarcomatoid change
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Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.
PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups
The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer
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Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.
PMID 11720476 · PMC2375261 · British journal of cancer · 2001 · 8 claims · 5 setups
I1307K APC germline mutation carriers were identified in 28 of 307 (9.1%) unselected Israeli CRC patients
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X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa.
PMID 14641931 · PMC317313 · BMC pediatrics · 2003 · 7 claims · 5 setups
This is the first fully characterized South African family with X-linked hyper-IgM syndrome (HIGM1)