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 930

System / cell line: blood ✕ Clear

Polymorphic repeat in AIB1 does not alter breast cancer risk.

PMID 11056690 · PMC13920 · Breast cancer research : BCR · 2000 · 7 claims · 3 setups

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AIB1 alleles with 26 or fewer glutamine repeats are not associated with increased breast cancer risk in the general population

peripheral cohort plasma pcr nested plasma
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.

PMID 11734061 · PMC60523 · BMC genetics · 2001 · 7 claims · 3 setups

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DHPLC can readily discriminate the two known mutational events (c.365G>A and c.365~366GC>AT) that both cause the R122H mutation

genomic pcr independently pcr denaturing direct
Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

PMID 11556836 · PMC2375067 · British journal of cancer · 2001 · 7 claims · 3 setups

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BRCA1 and BRCA2 mutations are not significantly more prevalent in patients with bilateral breast cancer than in matched unilateral controls

genomic clinical pcr-sscp restriction kaplan-meier
The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not associated with ischaemic heart disease: analysis employing a family based approach.

PMID 15665388 · PMC3839324 · Disease markers · 2004 · 6 claims · 3 setups

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The MMP-3 -1612 5A/6A polymorphism is not associated with ischaemic heart disease in an Irish population.

peripheral family extended pcr-rflp combined pedigree
Alpha-adducin Gly460Trp polymorphism and essential hypertension in Korea.

PMID 15608390 · PMC2816309 · Journal of Korean medical science · 2004 · 6 claims · 3 setups

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The Gly460Trp polymorphism of ADD-1 is not associated with essential hypertension in a Korean population

peripheral subjects population genotyping blood genetic
SNP-VISTA: an interactive SNP visualization tool.

PMID 16336665 · PMC1325058 · BMC bioinformatics · 2005 · 7 claims · 3 setups

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SNP-VISTA is an interactive Java-based visualization tool with two versions, GeneSNP-VISTA and EcoSNP-VISTA, for exploring large-scale SNP datasets

abo homologous acid snp multi-species blast-based
Detection of large deletions in the LDL receptor gene with quantitative PCR methods.

PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups

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MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions

genomic real-time multiplex long-range
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

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DAX1 mutations are a relatively frequent cause of adrenal failure in 46,XY phenotypic boys with adrenal hypoplasia

genomic direct targeted
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
Gene expression study on peripheral blood identifies progranulin mutations.

PMID 18551524 · PMC2773201 · Annals of neurology · 2008 · 7 claims · 3 setups

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PGRN is highly expressed in peripheral blood (97th percentile of all array genes)

peripheral blood-derived microarray direct real-time
Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis.

PMID 18298804 · PMC2266761 · BMC cancer · 2008 · 8 claims · 3 setups

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HRM correctly detects and distinguishes the three Ashkenazi Jewish BRCA1/BRCA2 founder mutations (185delAG, 5382insC, 6174delT) from wild type

peripheral high
Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.

PMID 19876656 · PMC2899680 · Pediatric nephrology (Berlin, Germany) · 2010 · 7 claims · 3 setups

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Self-identified Hispanic SRNS patients in the USA are genetically heterogeneous, being of either Caucasian or Mesoamerican (Native-American) descent

genomic same healthy direct genome-wide
A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

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A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

family peripheral patients microsatellite pcr clinical
PDLIM2 repression: a common mechanism in viral lung infection.

PMID 41904702 · PMC13168810 · ImmunoHorizons · 2026 · 8 claims · 7 setups

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PDLIM2 expression is repressed in blood leukocytes, BAL cells, and lung tissue of patients infected with influenza or SARS-CoV-2 compared to uninfected controls

peripheral blood bal influenza gene bulk single-cell
The rate of the 6174delT founder Jewish mutation in BRCA2 in patients with non-colonic gastrointestinal tract tumours in Israel.

PMID 11207041 · PMC2363777 · British journal of cancer · 2001 · 8 claims · 2 setups

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The 6174delT BRCA2 mutation carrier rate is significantly higher in Jewish Ashkenazi non-colonic GI cancer patients (8.6%) than in the general Ashkenazi population (1.16%)

unselected peripheral extraction pcr
Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

PMID 14735200 · PMC2409576 · British journal of cancer · 2004 · 8 claims · 2 setups

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Seven germline INK4a-ARF changes (five novel) were found in 7 of 89 patients (8%) suspected of genetic predisposition to melanoma.

genomic pcr real-time
Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history.

PMID 16389418 · PMC11060407 · Sao Paulo medical journal = Revista paulista de medicina · 2005 · 8 claims · 2 setups

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BRCA1 or BRCA2 mutations were detected in 4 of 31 (13%) Brazilian breast cancer patients with positive family history

genomic single-strand direct
Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.

PMID 16026601 · PMC1637030 · BMC bioinformatics · 2005 · 8 claims · 2 setups

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DF-SNPs, a novel adaptation of the Decision Forest method, can classify esophageal cancer cases vs. controls based on SNP genotype data with high concordance, sensitivity, and specificity.

genomic snp high-throughput decision
Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis.

PMID 17163998 · PMC1762011 · BMC gastroenterology · 2006 · 7 claims · 2 setups

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The ACE I/D polymorphism shows no significant association with TCP or FCPD pathogenesis, fibrosis, or progression

peripheral pcr sanger

Experiments

Polymorphic repeat in AIB1 does not alter breast cancer risk.

Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.

Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not associated with ischaemic heart disease: analysis employing a family based approach.

Alpha-adducin Gly460Trp polymorphism and essential hypertension in Korea.

SNP-VISTA: an interactive SNP visualization tool.

Detection of large deletions in the LDL receptor gene with quantitative PCR methods.

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.

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.

Gene expression study on peripheral blood identifies progranulin mutations.

Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis.

Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.

A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

PDLIM2 repression: a common mechanism in viral lung infection.

The rate of the 6174delT founder Jewish mutation in BRCA2 in patients with non-colonic gastrointestinal tract tumours in Israel.

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history.

Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.

Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis.