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).

Publications 1.3k Datasets 392.5k Experiments 51

System / cell line: subset ✕ Assay: pcr ✕ Clear

A common missense variant in BRCA2 predisposes to early onset breast cancer.

PMID 16280055 · PMC1410744 · Breast cancer research : BCR · 2005 · 7 claims · 4 setups

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BRCA2 C5972T homozygosity (TT genotype) is rare but confers a roughly five-fold increased risk of breast cancer.

peripheral blood-derived blood case-control genotyping sequencing mutation
Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.

PMID 16670016 · PMC1513378 · Lipids in health and disease · 2006 · 8 claims · 6 setups

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A -987C>T polymorphism located 4bp from the 3' end of the MseI RFLP forward primer causes allelic drop-out, producing incorrect -1131T>C genotypes.

asian random subjects unrelated arms-pcr msei sanger
Lack of mutation at codon 531 of SRC in advanced colorectal cancers from Italian patients.

PMID 11161376 · PMC2363715 · British journal of cancer · 2001 · 6 claims · 4 setups

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No SRC codon 531 mutation was detected in any of 155 Italian colorectal cancer cases (171 tissue specimens, primary tumours and liver metastases)

colorectal liver scalar subset pcr-rflp direct
Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector.

PMID 17317684 · PMC1874629 · Nucleic acids research · 2007 · 7 claims · 7 setups

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Gene-Collector is a method for multiplex nucleic acid amplification that specifically circularizes only correctly paired (cognate) PCR primer products on a Collector probe, degrading non-cognate artifacts by exonuclease treatment.

genomic multiplex circularized circular multiplex probe-guided exonuclease
Allelotype of squamous cell carcinoma of the head and neck: fractional allele loss correlates with survival.

PMID 7577465 · PMC2033926 · British journal of cancer · 1995 · 7 claims · 4 setups

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Allelic imbalance/LOH occurs most frequently on chromosome arms 3p, 9p, 17p and 18q (>45% LOH) in SCCHN

scchn subset microsatellite fractional survival
Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

PMID 10027313 · PMC2362434 · British journal of cancer · 1999 · 7 claims · 5 setups

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Allelic distribution of the Cyp19 intron 4 STRP differs significantly between breast cancer cases and controls

peripheral ceph individuals cases strp genotyping fluorescent
Multiplexed genetic analysis using an expanded genetic alphabet.

PMID 15319316 · PMC1592527 · Clinical chemistry · 2004 · 7 claims · 6 setups

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MultiCode PLx is a three-step platform (PCR, target-specific extension, liquid chip decoding) performed in a single reaction vessel and completed in ~3 h

genomic synthetic subset newborn multicode eracode automated
SNPdetector: a software tool for sensitive and accurate SNP detection.

PMID 16261194 · PMC1274293 · PLoS computational biology · 2005 · 7 claims · 7 setups

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SNPdetector, which models human visual inspection of sequencing traces, achieves low false positive and false negative rates in automated SNP and mutation detection

inbred unrelated zebra same pcr manual comparative
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

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VHL mutations were detected in 61% (114/187) of sporadic clear-cell RCC patients

archival subset flanking paraffin-embedded pcr-sscp feasibility histopathological
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

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COMP mutations were identified in 78% of families referred with PSACH

genomic sequence subset pcr bidirectional sequence
Expression of full-length p53 and its isoform Deltap53 in breast carcinomas in relation to mutation status and clinical parameters.

PMID 17054774 · PMC1636663 · Molecular cancer · 2006 · 7 claims · 7 setups

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The alternative splice isoform Δp53 mRNA is co-expressed with full-length p53 mRNA in breast tumors and cell lines

breast universal p53 subset qrt-pcr bioinformatic structure
A novel approach for rapid screening of mitochondrial D310 polymorphism.

PMID 16433919 · PMC1388229 · BMC cancer · 2006 · 7 claims · 4 setups

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A single-step BsaXI RFLP assay can rapidly determine 7-C carriers at the D310 first polyC stretch of mtDNA without sequencing

colorectal breast peripheral subset pcr-rflp sanger
High-density SNP genotyping to define beta-globin locus haplotypes.

PMID 18829352 · PMC4251776 · Blood cells, molecules & diseases · 2009 · 8 claims · 5 setups

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RFLP analysis lacks sufficient site density/coverage to accurately reflect the genomic complexity of the β-locus

genomic rflp subset rflp high-density haploview
Examination of FMR1 transcript and protein levels among 74 premutation carriers.

PMID 19927162 · PMC4122982 · Journal of human genetics · 2010 · 7 claims · 4 setups

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FMR1 premutation carriers (55-199 CGG repeats) show increased FMR1 transcript levels alongside decreased FMRP levels compared to normal individuals.

peripheral subset real-time western cgg
DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project.

PMID 15550986 · PMC529316 · PLoS biology · 2004 · 8 claims · 3 setups

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The human MHC methylation profile is strongly bimodal, with the vast majority of analysed regions being either hypo- (≤30%) or hypermethylated (≥70%)

mhc subset heterogeneously bisulphite maldi-ms sub-cloning
Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.

PMID 18036208 · PMC2253505 · BMC medical genetics · 2007 · 7 claims · 3 setups

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Improved short, non-overlapping TaqMan MGB probes accurately and simultaneously discriminate the H63D, S65C and C282Y HFE polymorphisms without cross-interference between the closely spaced codon 63/65 SNPs.

genomic real-time rflp sequencing
A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site.

PMID 18694864 · PMC3124709 · Hormones (Athens, Greece) · 2008 · 5 claims · 3 setups

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The COL1A1 3'UTR 4bp insertion polymorphism (A1/A2 alleles) is not associated with LDD in young male Greek subjects

genomic subset genotype pcr-based sequencing chi-square
Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population.

PMID 18682812 · PMC2493029 · Molecular vision · 2008 · 7 claims · 3 setups

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CFH Y402H (rs1061170) variant is not associated with exudative AMD in this northern Chinese cohort

peripheral subset same pcr direct statistical
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

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Unmutated VH gene CLL cases have significantly shorter telomeres than mutated VH gene CLL cases

cll subset pcr southern real-time
Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen.

PMID 16212661 · PMC1282566 · BMC genetics · 2005 · 8 claims · 4 setups

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The previously proposed P2-specific markers -551_-550insC and -160A>G do not correlate with P1/P2 phenotype, since they occur homozygously in many P1 individuals too

genomic erythrocytes direct pcr pcr-asp

Experiments

A common missense variant in BRCA2 predisposes to early onset breast cancer.

Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.

Lack of mutation at codon 531 of SRC in advanced colorectal cancers from Italian patients.

Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector.

Allelotype of squamous cell carcinoma of the head and neck: fractional allele loss correlates with survival.

Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk.

Multiplexed genetic analysis using an expanded genetic alphabet.

SNPdetector: a software tool for sensitive and accurate SNP detection.

Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study.

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

Expression of full-length p53 and its isoform Deltap53 in breast carcinomas in relation to mutation status and clinical parameters.

A novel approach for rapid screening of mitochondrial D310 polymorphism.

High-density SNP genotyping to define beta-globin locus haplotypes.

Examination of FMR1 transcript and protein levels among 74 premutation carriers.

DNA methylation profiling of the human major histocompatibility complex: a pilot study for the human epigenome project.

Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.

A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site.

Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population.

Association between telomere length and V(H) gene mutation status in chronic lymphocytic leukaemia: clinical and biological implications.

Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen.