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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Characterisation of p53 status at the gene, chromosomal and protein levels in oesophageal adenocarcinoma.
PMID 14583777 · PMC2394414 · British journal of cancer · 2003 · 8 claims · 4 setups
p53 gene mutations are infrequent in oesophageal adenocarcinoma (9.6%)
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Eurasian and African mitochondrial DNA influences in the Saudi Arabian population.
PMID 17331239 · PMC1810519 · BMC evolutionary biology · 2007 · 8 claims · 4 setups
The majority (85%) of Saudi Arab mtDNA lineages have a western Asia (Eurasian) provenance
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Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.
PMID 11850598 · PMC3054831 · Journal of Korean medical science · 2002 · 7 claims · 5 setups
MELAS muscle shows strongly SDH-positive blood vessels (SSVs) and many COX-positive ragged-red fibers, while MERRF muscle shows neither SSVs nor COX-positive RRFs, giving distinct histochemical staining patterns between the two diseases.
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Leber's hereditary optic neuropathy--case report and literature review.
PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups
Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON
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Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.
PMID 18036208 · PMC2253505 · BMC medical genetics · 2007 · 7 claims · 3 setups
Improved short, non-overlapping TaqMan MGB probes accurately and simultaneously discriminate the H63D, S65C and C282Y HFE polymorphisms without cross-interference between the closely spaced codon 63/65 SNPs.
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Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.
PMID 19760750 · PMC2784016 · Human mutation · 2009 · 8 claims · 6 setups
Two-round fast COLD-PCR followed by Sanger sequencing detects TP53 mutations at abundances as low as ~1%, below the sensitivity of conventional Sanger sequencing (~20-25%)
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Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.
PMID 16670016 · PMC1513378 · Lipids in health and disease · 2006 · 8 claims · 6 setups
A -987C>T polymorphism located 4bp from the 3' end of the MseI RFLP forward primer causes allelic drop-out, producing incorrect -1131T>C genotypes.
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Joint association of polymorphism of the FGFR4 gene and mutation TP53 gene with bladder cancer prognosis.
PMID 17088904 · PMC2360734 · British journal of cancer · 2006 · 8 claims · 5 setups
No clear correlation was found between the FGFR4 Gly388Arg genotype and risk of developing bladder cancer.
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A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups
The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.
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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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Recombinant vaccine-derived poliovirus in Madagascar.
PMID 12899139 · PMC3023450 · Emerging infectious diseases · 2003 · 7 claims · 4 setups
Five acute flaccid paralysis cases in southern Madagascar were associated with vaccine-derived poliovirus (VDPV) type 2 isolates
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A common missense variant in BRCA2 predisposes to early onset breast cancer.
PMID 16280055 · PMC1410744 · Breast cancer research : BCR · 2005 · 7 claims · 4 setups
BRCA2 C5972T homozygosity (TT genotype) is rare but confers a roughly five-fold increased risk of breast cancer.
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Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.
PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups
Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)
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Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.
PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups
No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers
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MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups
Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype
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Hepatitis B virus genotypes circulating in Brazil: molecular characterization of genotype F isolates.
PMID 18036224 · PMC2231365 · BMC microbiology · 2007 · 8 claims · 4 setups
Genotypes A, D, and F co-circulate in each of the five Brazilian geographic regions, with no other genotypes identified among 303 isolates
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Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
PMID 18776955 · PMC2530518 · Molecular vision · 2008 · 7 claims · 4 setups
Two novel MYOC mutations, Pro13Leu (38C→T) and Gln337Stop (1009C del), are likely responsible for POAG pathogenesis in this pedigree
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Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study.
PMID 20040103 · PMC2808306 · BMC medical genetics · 2009 · 6 claims · 5 setups
Long form DRD4 uVNTR alleles (≥5 repeats) are associated with increased risk of schizophrenia
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Population study of 1311 C/T polymorphism of Glucose 6 Phosphate Dehydrogenase gene in Pakistan - an analysis of 715 X-chromosomes.
PMID 19640310 · PMC2725355 · BMC genetics · 2009 · 8 claims · 4 setups
1311T is a frequent polymorphism in Pakistan both in subjects carrying G6PD Mediterranean mutation and in the general population
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K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.
PMID 9514049 · PMC2149957 · British journal of cancer · 1998 · 6 claims · 4 setups
K-ras codon 12 mutation is present in all carcinoma lesions examined with no intratumour heterogeneity, consistent with an early carcinogenic event