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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Incidence of mutation and deletion in topoisomerase II alpha mRNA of etoposide and mAMSA-resistant cell lines.
PMID 11676865 · PMC5926608 · Japanese journal of cancer research : Gann · 2001 · 7 claims · 6 setups
Acquired mutations of the topoisomerase IIα gene are an important and frequent mechanism of resistance to topoisomerase II inhibitors, independent of the degree of resistance.
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Mitotic checkpoint protein hsMAD2 as a marker predicting liver metastasis of human gastric cancers.
PMID 11572763 · PMC5926839 · Japanese journal of cancer research : Gann · 2001 · 8 claims · 4 setups
No mutations were found in the coding sequence of the hsMAD2 gene in 32 primary gastric cancers
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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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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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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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Detection of p53 mutations in precancerous gastric tissue.
PMID 14520466 · PMC2394306 · British journal of cancer · 2003 · 8 claims · 6 setups
p53 mutations can be detected in precancerous gastritis and intestinal metaplasia tissue using the restriction site mutation (RSM) assay
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Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups
TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes
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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation.
PMID 15345028 · PMC517934 · BMC medical genetics · 2004 · 8 claims · 4 setups
No disease-associated mutations were found in TM4SF10 in 16 XLMR patients from 14 families with linkage to the TM4SF10 locus.
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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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Genomic variability within an organism exposes its cell lineage tree.
PMID 16261192 · PMC1274291 · PLoS computational biology · 2005 · 8 claims · 5 setups
Somatic mutations accumulated during normal development implicitly encode an organism's entire cell lineage tree with very high precision.
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Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.
PMID 15833136 · PMC1097718 · BMC cancer · 2005 · 8 claims · 6 setups
A 250 Kbp deletion spanning intron 5 to beyond exon 15 of APC was identified in one FAP patient using MLPA, karyotyping, and FISH.
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COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups
COMP mutations were identified in 78% of families referred with PSACH
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Gefitinib for non-small-cell lung cancer patients with epidermal growth factor receptor gene mutations screened by peptide nucleic acid-locked nucleic acid PCR clamp.
PMID 17106442 · PMC2360739 · British journal of cancer · 2006 · 5 claims · 4 setups
NSCLC patients with EGFR mutations detected by PNA-LNA PCR clamp show significantly higher response rates and longer survival with gefitinib than EGFR wild-type patients.
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The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups
NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots
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Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups
GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.
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Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups
Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma
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Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
PMID 18162506 · PMC7611804 · Diabetes · 2008 · 8 claims · 8 setups
Heterozygous INS mutations are a common cause of permanent neonatal diabetes (PNDM) diagnosed before 6 months of age
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Role of FGFR3 in urothelial cell carcinoma: biomarker and potential therapeutic target.
PMID 17912529 · PMC4876910 · World journal of urology · 2007 · 8 claims · 8 setups
Activating FGFR3 mutations occur frequently in bladder cancer and are strongly associated with low tumour grade and stage
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In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
PMID 17726045 · PMC2094079 · Nucleic acids research · 2007 · 8 claims · 6 setups
Two exonic mutations, PINK1 E417G and PARK7 E64D, disrupt binding to U1 snRNA and cause skipping of the mutation-harboring exon
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Correlations of EGFR mutations and increases in EGFR and HER2 copy number to gefitinib response in a retrospective analysis of lung cancer patients.
PMID 17626639 · PMC1952070 · BMC cancer · 2007 · 7 claims · 4 setups
EGFR mutations (exon 19 deletions, exon 21 L858R) did not correlate with gefitinib response in this cohort