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 19

System / cell line: exon ✕ Assay: case-control ✕ Clear

Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia.

PMID 17534430 · PMC1868958 · PloS one · 2007 · 8 claims · 6 setups

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Microsatellite D17S798 in the 17q11.2 region shows significant association with MS

nuclear accn1 genetic genotype microsatellite direct snp
Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.

PMID 20031542 · PMC3097376 · Circulation. Cardiovascular genetics · 2008 · 7 claims · 8 setups

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Rare Mendelian mutations (e.g., in sarcomere genes, ion channels, FBN1, LMNA) cause specific rare cardiovascular conditions (hypertrophic/dilated cardiomyopathy, long-QT syndrome, thoracic aortic aneurysm, progeria) but explain little of common CVD risk.

community-based subjects dallas mice exon community-based gene
Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.

PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups

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Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls

genomic pcr patients dhplc cloning pcr-rflp
Epithelial ovarian cancer: influence of polymorphism at the glutathione S-transferase GSTM1 and GSTT1 loci on p53 expression.

PMID 8956789 · PMC2077203 · British journal of cancer · 1996 · 8 claims · 4 setups

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GSTM1, GSTT1 and CYP2D6 genotype/allele frequencies did not differ significantly between 84 ovarian cancer cases and 325 controls, showing no association with disease susceptibility.

leucocyte paraffin-embedded tumour pcr-amplified pcr-based immunohistochemistry single-strand
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups

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BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant

lymphocytes brca2 brca2-null ashkenazi rt-pcr splicing allelic
Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

PMID 17477860 · PMC1871603 · BMC genetics · 2007 · 7 claims · 5 setups

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DGAT2 is a plausible positional and functional candidate gene for obesity due to its localization at chr.11q13 (a linkage region) and its key role in triglyceride synthesis

extremely families genome sanger case-control family-based
Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups

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OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.

genomic ghanaian pcr taqman logistic
The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.

PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups

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No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls

genomic pcr genotype pcr-based direct pcr
Mutation analysis of the ATR gene in breast and ovarian cancer families.

PMID 15987455 · PMC1175065 · Breast cancer research : BCR · 2005 · 8 claims · 5 setups

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ATR mediates the DNA damage response by phosphorylating tumor suppressors such as p53, BRCA1 and CHK1, making it a plausible candidate breast/ovarian cancer susceptibility gene

index atr variant mutation direct variant
Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups

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The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect

genomic pcr-amplified case-control pon1 single-strand direct genetic
Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

PMID 19929093 · PMC2945731 · The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2009 · 8 claims · 4 setups

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The translocation breakpoints disrupt SLC31A1 (intron 1) on chromosome 9 and a predicted gene containing CCL2 (5'UTR/exons) on chromosome 17

family genomic case-control case fluorescence long-range mutation
The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

PMID 17393301 · PMC2137941 · Breast cancer research and treatment · 2008 · 6 claims · 3 setups

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ATM missense variant frequency does not differ significantly between CBC and UBC patients, indicating no major impact on overall CBC risk

germline breast denaturing sanger case-control
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

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FXIII Val34Leu polymorphism is absent or rare in both PICH patients and healthy controls among Koreans

genomic pcr randomly pich pcr single-stranded direct
TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups

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A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.

brain peripheral sk-nsh-n genomic rt-pcr direct snp
ATM variants and cancer risk in breast cancer patients from Southern Finland.

PMID 16914028 · PMC1592307 · BMC cancer · 2006 · 8 claims · 6 setups

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Neither 5557G>A nor ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk in any patient group

familial brca1 same genotype genotyping denaturing direct
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
Mutation analysis of the MSMB gene in familial prostate cancer.

PMID 19997100 · PMC2816656 · British journal of cancer · 2010 · 8 claims · 5 setups

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No deleterious mutations were found in the MSMB coding region in 192 familial prostate cancer cases

germline blood 161-nt genotype sanger taqman transcription
Genomics--from Neanderthals to high-throughput sequencing.

PMID 16934106 · PMC1779599 · Genome biology · 2006 · 8 claims · 8 setups

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Next-generation sequencing platforms (GS20/454 and Solexa) can deliver the throughput and cost reductions needed for population-scale and medical resequencing.

bacterial ion-channel drosophila arrays next-generation pooled multiplex
Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.

PMID 17945002 · PMC2242669 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

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-26G>A polymorphism in the BRCA2 5' UTR is functional: the A allele drives roughly twice the reporter gene expression of the G allele in MCF-7 and HeLa cells

mcf-7 hela brca2 peripheral luciferase transcription genotyping

Experiments

Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia.

Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.

Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.

Epithelial ovarian cancer: influence of polymorphism at the glutathione S-transferase GSTM1 and GSTT1 loci on p53 expression.

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.

Mutation analysis of the ATR gene in breast and ovarian cancer families.

Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.

Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).

The spectrum of ATM missense variants and their contribution to contralateral breast cancer.

No association of factor XIII Val34Leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population.

TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

ATM variants and cancer risk in breast cancer patients from Southern Finland.

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

Mutation analysis of the MSMB gene in familial prostate cancer.

Genomics--from Neanderthals to high-throughput sequencing.

Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.