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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Frequent p53 gene mutations in soft tissue sarcomas arising in burn scar.
PMID 10359041 · PMC5926059 · Japanese journal of cancer research : Gann · 1999 · 6 claims · 4 setups
p53 gene mutations occur at a high frequency in soft tissue sarcomas arising in burn scars
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Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.
PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups
BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK
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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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Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.
PMID 11454237 · PMC34549 · BMC genetics · 2001 · 6 claims · 4 setups
The desmuslin (DMN) gene was localized to chromosome 15q26.3 via electronic screening of the human genome database, and its 5-exon genomic organization was determined.
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The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.
PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups
No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls
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Analysis of human sarcospan as a candidate gene for CFEOM1.
PMID 11180757 · PMC29083 · BMC genetics · 2001 · 7 claims · 5 setups
Sarcospan sequence is unmutated in all six CFEOM1 families studied
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Mutations in the ST7/RAY1/HELG locus rarely occur in primary colorectal, gastric, and hepatocellular carcinomas.
PMID 12799635 · PMC2741100 · British journal of cancer · 2003 · 7 claims · 4 setups
ST7 gene mutations are rare in primary colorectal, gastric, and hepatocellular carcinomas
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Molecular variants of the ATM gene in Hodgkin's disease in children.
PMID 14735203 · PMC2409549 · British journal of cancer · 2004 · 8 claims · 4 setups
Missense variants of the ATM gene occur in childhood Hodgkin lymphoma but at low frequency (9%), and thus do not play a major role in oncogenesis of the disease
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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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Is a genetic defect in Fkbp6 a common cause of azoospermia in humans?
PMID 16983454 · PMC6275806 · Cellular & molecular biology letters · 2006 · 7 claims · 7 setups
Human FKBP6 expression is restricted to the testis among 15 adult tissues examined
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Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups
Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations
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Human metapneumovirus, Australia, 2001-2004.
PMID 16965711 · PMC3291208 · Emerging infectious diseases · 2006 · 8 claims · 5 setups
HMPV had a 7.1% average annual incidence among 10,025 respiratory samples tested over 4 years
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Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
PMID 16672055 · PMC1468397 · BMC medical genetics · 2006 · 6 claims · 5 setups
Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing
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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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Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.
PMID 16569242 · PMC1444927 · BMC medical genetics · 2006 · 7 claims · 4 setups
Linkage and haplotype analysis in the South African family are highly suggestive of linkage to the ARVC6 locus on chromosome 10p12-p14
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Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.
PMID 16404428 · PMC2361126 · British journal of cancer · 2006 · 6 claims · 5 setups
Somatic mtDNA mutations occur in renal cell carcinoma but are infrequent and frequently present at low (below 25%) heteroplasmy levels
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APC promoter methylation and protein expression in hepatocellular carcinoma.
PMID 17973119 · PMC2757596 · Journal of cancer research and clinical oncology · 2008 · 6 claims · 7 setups
APC promoter methylation is significantly higher in HCC compared to non-cancerous liver tissue
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A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.
PMID 17554401 · PMC1885554 · International journal of medical sciences · 2007 · 8 claims · 6 setups
A novel VNTR polymorphism (TTTC repeat) was discovered at -1241 nucleotides in the 5'-flanking region of NPPB, with 8 alleles ranging from 9 to 19 repeats.
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Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia.
PMID 17534430 · PMC1868958 · PloS one · 2007 · 8 claims · 6 setups
Microsatellite D17S798 in the 17q11.2 region shows significant association with MS
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MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.
PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups
The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap