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 minisequencing method: a simple strategy for genetic screening of MEN 2 families.
PMID 12042015 · PMC116428 · BMC genetics · 2002 · 6 claims · 4 setups
Minisequencing reproduces the same mutation information obtained by direct sequencing of PCR products at RET codons 634 and 918 in all tested MEN 2 family members.
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The absence of Mth1 inactivation and DNA polymerase kappa overexpression in rat mammary carcinomas with frequent A:T to C:G transversions.
PMID 12036445 · PMC5927037 · Japanese journal of cancer research : Gann · 2002 · 8 claims · 5 setups
SNI (elevated spontaneous point mutation rate without microsatellite instability) is present in rat mammary carcinoma cell lines and human breast cancer cell lines
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A novel germline mutation of PTEN associated with brain tumours of multiple lineages.
PMID 12085208 · PMC2746590 · British journal of cancer · 2002 · 8 claims · 6 setups
A novel heterozygous germline PTEN mutation (Arg234Gln, R234Q) was identified in a patient with glioma and prior meningioma
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Deletion of dinucleotide repeat (Delta 14 allele) in the methylthioadenosine phosphorylase (MTAP) promoter and the allelotype of MTAP promoter in the Japanese population.
PMID 11985785 · PMC5927014 · Japanese journal of cancer research : Gann · 2002 · 8 claims · 4 setups
DHL-9 lymphoma cells lack detectable MTAP enzyme activity despite possessing an intact (non-deleted) MTAP gene
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No association of factor XIII Val34Leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population.
PMID 11961312 · PMC3054847 · Journal of Korean medical science · 2002 · 5 claims · 4 setups
FXIII Val34Leu polymorphism is absent or rare in both PICH patients and healthy controls among Koreans
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Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.
PMID 11870543 · PMC2375272 · British journal of cancer · 2002 · 8 claims · 5 setups
DFFA is localized within the 1p36.2-3 smallest region of overlap (SRO) of deletions defined in Scandinavian neuroblastoma tumours, distal to marker D1S244
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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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Analysis of human prostate cancers and cell lines for mutations in the TP53 and KLF6 tumour suppressor genes.
PMID 12915879 · PMC2376923 · British journal of cancer · 2003 · 4 claims · 4 setups
KLF6 exon2 miscoding mutations are uncommon in prostate cancer, contrary to the earlier report of ~55% mutation frequency
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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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Association between telomere length and V(H) gene mutation status in chronic lymphocytic leukaemia: clinical and biological implications.
PMID 12592375 · PMC2377180 · British journal of cancer · 2003 · 7 claims · 5 setups
Unmutated VH gene CLL cases have significantly shorter telomeres than mutated VH gene CLL cases
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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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Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal cancer.
PMID 12546713 · PMC149362 · BMC genetics · 2003 · 8 claims · 7 setups
PIGR is a nasopharyngeal cancer susceptibility gene
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Leber's hereditary optic neuropathy--case report and literature review.
PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups
Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON
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Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
PMID 15665393 · PMC3839340 · Disease markers · 2004 · 8 claims · 4 setups
An intron-5/exon-6 splice acceptor mutation in TGM1, detectable by MspI digestion, was identified in two Egyptian families at a frequency of 9.6% (5/52 alleles)
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Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.
PMID 15601538 · PMC3525068 · Human genomics · 2004 · 8 claims · 8 setups
An integrated system combining Ensembl, ACeDB, Gbrowse and custom relational databases provides a scalable genome informatics and workflow infrastructure for complex disease gene discovery.
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Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene.
PMID 15563733 · PMC544357 · BMC biotechnology · 2004 · 8 claims · 6 setups
A single-track sequencing (SSR) strategy on one PCR product can simultaneously address 24 genetic variants in the NAT1 gene using paired terminator tracks (A/G for coding region, A/T for 3' flanking region)
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CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity.
PMID 15507145 · PMC526769 · BMC medical genetics · 2004 · 8 claims · 7 setups
PCR amplification and sequencing of CLC-2 revealed 1 SNP in the promoter, 4 SNPs in intron 1, and none in exon 20
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Spotted-fever group Rickettsia in Dermacentor variabilis, Maryland.
PMID 15496254 · PMC3320417 · Emerging infectious diseases · 2004 · 8 claims · 6 setups
SFG Rickettsia infection prevalence in Maryland D. variabilis was 3.8% (15/392)
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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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Molecular analysis of Plasmodium ovale variants.
PMID 15324543 · PMC3323326 · Emerging infectious diseases · 2004 · 8 claims · 5 setups
P. ovale isolates separate into two genetically distinct types, classic (Nigerian I/CDC) and variant (LS), consistent across four independent gene loci.