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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p53 mutations as a marker of malignancy in bladder washing samples from patients with bladder cancer.
PMID 10638980 · PMC2363182 · British journal of cancer · 2000 · 6 claims · 4 setups
p53 mutations can be detected and characterized in bladder-washing samples from bladder cancer patients using PCR-SSCP without prior knowledge of the mutation.
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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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Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients.
PMID 15082894 · PMC2822302 · Journal of Korean medical science · 2004 · 8 claims · 4 setups
Five unrelated Korean X-linked CGD patients each carry a distinct CYBB gene mutation: c.1663insT, c.1111-1G>T, c.39_40insG, c.927delC, and c.434T>C
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The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.
PMID 15799783 · PMC1079842 · BMC medical genetics · 2005 · 7 claims · 4 setups
The GABBR1 G1465A polymorphism is not associated with TLE preceded by febrile seizures, failing to replicate the prior positive association
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Analysis of the p53 gene by PCR-SSCP in ten cases of Wilms' tumor.
PMID 10772697 · PMC11166235 · Sao Paulo medical journal = Revista paulista de medicina · 2000 · 7 claims · 3 setups
Point mutations of the p53 gene (exons 5-9) were not detected in any of the 10 Wilms' tumor samples studied
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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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Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.
PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups
OPTC is a candidate gene involved in POAG pathogenesis
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Mutational analysis of CDKN2 (CDK4I/MTS1) gene in tissues and cell lines of human prostate cancer.
PMID 7559077 · PMC5920883 · Japanese journal of cancer research : Gann · 1995 · 5 claims · 4 setups
Mutation of the CDKN2 gene is rare in prostate cancer tissues, occurring in only 1 of 51 (2%) patients
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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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CHEK2 variants associate with hereditary prostate cancer.
PMID 14612911 · PMC2394451 · British journal of cancer · 2003 · 8 claims · 6 setups
CHEK2 1100delC frameshift mutation is significantly more frequent in Finnish HPC patients than in population controls
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BRAF mutations in non-Hodgkin's lymphoma.
PMID 14612909 · PMC2394455 · British journal of cancer · 2003 · 7 claims · 4 setups
BRAF is somatically mutated in a subset of NHLs (4/164, 2.4%)
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Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
PMID 17515881 · PMC2669507 · Molecular vision · 2007 · 8 claims · 6 setups
Five RS1 mutations (c.574C>T, c.583A>G, c.608C>T, c.617G>A, c.637C>T) were identified in exon 6 of six unrelated Indian XLRS patients
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Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.
PMID 7577469 · PMC2033918 · British journal of cancer · 1995 · 6 claims · 4 setups
No p53 mutations were found in the hotspot region (exons 4-8) of 25 phaeochromocytomas by PCR-SSCP and sequencing
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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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p53 mutations in urinary bladder cancer.
PMID 11384101 · PMC2363660 · British journal of cancer · 2001 · 6 claims · 5 setups
p53 mutations are strongly associated with high-grade/high-stage bladder tumors and are nearly absent in lowly malignant tumors (Ta, G1-G2a)
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A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.
PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups
A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing
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B-RAF and N-RAS mutations are preserved during short time in vitro propagation and differentially impact prognosis.
PMID 17311103 · PMC1794595 · PloS one · 2007 · 5 claims · 4 setups
B-RAF and N-RAS mutation status is well preserved (strongly concordant) between tumor tissue biopsies and corresponding short-term in vitro propagated cell lines.
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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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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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Mutation analysis of the WT1 gene in myelodysplastic syndromes.
PMID 9765617 · PMC5921914 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 3 setups
WT1 mutations are uncommon overall in MDS