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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The detection of K-ras mutations in colorectal cancer using the amplification-refractory mutation system.
PMID 9579832 · PMC2150152 · British journal of cancer · 1998 · 5 claims · 6 setups
ARMS reliably detects K-ras codon 12/13 mutations in archival CRC DNA samples even when mutant sequence is under-represented relative to wild-type
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Mechanisms of relapse in acute leukaemia: involvement of p53 mutated subclones in disease progression in acute lymphoblastic leukaemia.
PMID 10098750 · PMC2362216 · British journal of cancer · 1999 · 6 claims · 4 setups
p53 mutations are detected at relapse far more frequently in ALL (28.6%) than in AML (7.3%)
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Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
PMID 11710958 · PMC59832 · BMC genetics · 2001 · 7 claims · 6 setups
DHPLC screening combined with direct sequencing detects likely disease-causative point mutations in the dystrophin gene missed by multiplexed PCR deletion/duplication testing
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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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Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups
Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P
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EGFR mutation status in tumour-derived DNA from pleural effusion fluid is a practical basis for predicting the response to gefitinib.
PMID 17060940 · PMC2360588 · British journal of cancer · 2006 · 7 claims · 4 setups
EGFR mutations can be detected by direct sequencing of DNA extracted from cell-free pleural effusion fluid supernatant in NSCLC patients
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A phase II trial of gefitinib as first-line therapy for advanced non-small cell lung cancer with epidermal growth factor receptor mutations.
PMID 17047648 · PMC2360715 · British journal of cancer · 2006 · 7 claims · 5 setups
Gefitinib is highly active and well tolerated as first-line therapy for advanced NSCLC with EGFR mutations
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Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.
PMID 17010193 · PMC1599749 · BMC cancer · 2006 · 8 claims · 4 setups
No germline deleterious mutations were identified in the ATR coding region among 54 non-BRCA1/2 high-risk French Canadian breast cancer cases.
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Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.
PMID 16778407 · PMC2729969 · Journal of Korean medical science · 2006 · 7 claims · 8 setups
The patient was diagnosed with cystic fibrosis based on elevated sweat chloride concentration and identification of two CFTR mutations.
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Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.
PMID 16542438 · PMC1526716 · BMC medical genetics · 2006 · 8 claims · 6 setups
Mutations in the OAZ3 gene are not a common cause of male infertility
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Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.
PMID 16479084 · PMC2733967 · Journal of Korean medical science · 2006 · 8 claims · 7 setups
Two female infants with isolated diffuse mesangial sclerosis (IDMS) and early-onset end-stage renal failure carried heterozygous WT1 mutations (exon 8 366Arg>His; exon 9 396Asp>Tyr)
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Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups
Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.
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Genetic and epigenetic alterations of Ras signalling pathway in colorectal neoplasia: analysis based on tumour clinicopathological features.
PMID 17923875 · PMC2360240 · British journal of cancer · 2007 · 8 claims · 4 setups
K-ras/BRAF mutations and RASSF2 methylation frequently co-occur in colorectal adenomas, suggesting synergistic cooperation
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Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.
PMID 18270997 · PMC2909109 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups
The G/A and A/A genotypes of G472A (Val158Met) are point-wise significantly associated with opiate addiction in Hispanic women but not men (P=0.049)
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Epidermal growth factor receptor structural alterations in gastric cancer.
PMID 18199332 · PMC2244615 · BMC cancer · 2008 · 8 claims · 4 setups
EGFR structural alterations are rare in gastric carcinoma
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Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.
PMID 19826477 · PMC2757721 · PloS one · 2009 · 8 claims · 8 setups
Homozygous mutations of oncogenes are frequent (20%) across 833 cancer cell lines of 12 tumor types in the Sanger database
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Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
PMID 16684822 · PMC1865080 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 3 setups
DAX1 mutations are a relatively frequent cause of adrenal failure in 46,XY phenotypic boys with adrenal hypoplasia
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Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.
PMID 11556835 · PMC2375072 · British journal of cancer · 2001 · 6 claims · 4 setups
MD-CFLP can detect DNA sequence alterations (single-base substitutions, small insertions/deletions) in BRCA1 fragments longer than 1 kb
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Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain.
PMID 15737014 · PMC549606 · PLoS medicine · 2005 · 7 claims · 6 setups
A secondary EGFR exon 20 mutation (T790M) is found in tumors from patients with acquired resistance to gefitinib or erlotinib
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Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas.
PMID 16545110 · PMC1475604 · BMC cancer · 2006 · 8 claims · 4 setups
Smoking is associated with adenoma and CRC development, with the association strongest in tumors lacking APC truncation mutations