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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Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups
NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations
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Epithelial ovarian cancer: influence of polymorphism at the glutathione S-transferase GSTM1 and GSTT1 loci on p53 expression.
PMID 8956789 · PMC2077203 · British journal of cancer · 1996 · 8 claims · 4 setups
GSTM1, GSTT1 and CYP2D6 genotype/allele frequencies did not differ significantly between 84 ovarian cancer cases and 325 controls, showing no association with disease susceptibility.
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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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Low frequency of E-cadherin alterations in familial breast cancer.
PMID 11305955 · PMC30704 · Breast cancer research : BCR · 2001 · 8 claims · 5 setups
No pathogenic germline E-cadherin mutations were found in 19 familial breast cancer patients whose tumours showed LOH at the E-cadherin locus
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CpG island methylation status and mutation analysis of the RB1 gene essential promoter region and protein-binding pocket domain in nervous system tumours.
PMID 12556968 · PMC2376780 · British journal of cancer · 2003 · 8 claims · 4 setups
RB1 CpG island hypermethylation is a common epigenetic event associated with development of malignant nervous system tumours
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Genetic and epigenetic analyses of MBD3 in colon and lung cancer.
PMID 15138480 · PMC2410281 · British journal of cancer · 2004 · 7 claims · 5 setups
MBD3 is not a major target of genetic or epigenetic alteration in colon and lung cancer
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Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.
PMID 11556836 · PMC2375067 · British journal of cancer · 2001 · 7 claims · 3 setups
BRCA1 and BRCA2 mutations are not significantly more prevalent in patients with bilateral breast cancer than in matched unilateral controls
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Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.
PMID 8613431 · PMC5921088 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 4 setups
hMSH2 germline mutations were detected in 5 of 36 Japanese HNPCC kindreds (14%)
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Multiple molecular marker testing (p53, C-Ki-ras, c-erbB-2) improves estimation of prognosis in potentially curative resected non-small cell lung cancer.
PMID 10945494 · PMC2374666 · British journal of cancer · 2000 · 6 claims · 4 setups
Testing 3 molecular markers (c-Ki-ras, p53, c-erbB-2) together improves estimation of prognosis compared to single marker testing and defines low- and high-risk groups for treatment failure in R0-resected NSCLC.
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Pancreatic tumours: molecular pathways implicated in ductal cancer are involved in ampullary but not in exocrine nonductal or endocrine tumorigenesis.
PMID 11161385 · PMC2363700 · British journal of cancer · 2001 · 8 claims · 6 setups
PDC shows frequent alterations of K-ras, p53, p16 and DPC4, confirming these as the core molecular fingerprint of ductal cancer
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In B-CLL, the codon 72 polymorphic variants of p53 are not related to drug resistance and disease prognosis.
PMID 16109171 · PMC1208864 · BMC cancer · 2005 · 7 claims · 5 setups
The p53 codon 72 polymorphism is not associated with drug resistance or overall survival in B-CLL
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Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study.
PMID 15932632 · PMC1177929 · BMC cancer · 2005 · 7 claims · 4 setups
VHL mutations were detected in 61% (114/187) of sporadic clear-cell RCC patients
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Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
PMID 16652333 · PMC1828612 · Human mutation · 2006 · 7 claims · 6 setups
FBLN5 missense mutations are associated with ARMD in a European (UK/Dutch) cohort, confirming prior US findings
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Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
PMID 19122847 · PMC2585750 · Circulation. Arrhythmia and electrophysiology · 2008 · 7 claims · 5 setups
A missense R99H mutation in KCNE3 was identified in a Brugada Syndrome proband and cosegregates with the phenotype in the family (4/4 phenotype-positive, 0/3 phenotype-negative members carried it)
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A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.
PMID 18628483 · PMC2561321 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 6 claims · 7 setups
A novel heterozygous BRIP1 germline mutation (c.2992-2995delAAGA) was identified in a breast cancer patient, causing a frameshift and premature stop codon in exon 20.
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Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups
Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21
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Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.
PMID 19825160 · PMC2767350 · BMC medical genetics · 2009 · 8 claims · 6 setups
A novel 16 bp deletion variant (g.-6_+10del) was identified in the DJ-1 5'-UTR, spanning the transcription start site, 93 bp downstream of a known Sp1 site.
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Genetic alterations in the coding region of the bak gene in uterine cervical carcinoma.
PMID 12771926 · PMC2377111 · British journal of cancer · 2003 · 8 claims · 3 setups
A significant frequency of mutations (six missense, one silent) was found in the coding region of the bak gene (exons 3, 4, 6) in uterine cervical carcinoma
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rpoB Gene mutations in rifampin-resistant Mycobacterium tuberculosis identified by polymerase chain reaction single-stranded conformational polymorphism.
PMID 11747730 · PMC2631921 · Emerging infectious diseases · 2001 · 6 claims · 4 setups
PCR-SSCP has high specificity (100%) but poor sensitivity (31.4%) for detecting rpoB mutations in rifampin-resistant M. tuberculosis clinical isolates
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CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups
Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)