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 96

System / cell line: peripheral ✕ Assay: genotyping ✕ Clear

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
Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.

PMID 16961930 · PMC1570477 · Molecular cancer · 2006 · 8 claims · 6 setups

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Somatic deletion of the maternal NF1 allele occurred in the melanoma of an NF1 patient, demonstrating biallelic NF1 inactivation.

peripheral microdissected formalin-fixed microsatellite conventional digital
A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.

PMID 17222328 · PMC1784097 · BMC cancer · 2007 · 7 claims · 8 setups

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A workflow combining Alohomora, Mega2, MENDEL, SNPLINK and SimWalk2 enables linkage analysis with high-density SNP arrays in large pedigrees (>35-40 bits) that exceed the capacity of single existing programs

peripheral pedigree nuclear family snp two-point multipoint
Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population.

PMID 18655717 · PMC2515290 · BMC medical genetics · 2008 · 8 claims · 4 setups

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rs7903146 T allele frequency does not differ significantly between Saudi T2D cases and controls (OR 1.04, 95% CI 0.86-1.27, P=0.675)

peripheral saudi genotype subset snp case-control haplotype
The FAS gene, brain volume, and disease progression in Alzheimer's disease.

PMID 19766542 · PMC3100774 · Alzheimer's & dementia : the journal of the Alzheimer's Association · 2010 · 8 claims · 4 setups

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The minor (T) allele of rs1468063 in FAS is significantly associated with faster AD progression after permutation-based multiple-testing correction

peripheral longitudinally same subset snp survival permutation
Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.

PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups

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No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers

peripheral pcr bacteremia pcr-rflp sequencing blood
Analysis of variants in DNA damage signalling genes in bladder cancer.

PMID 18638378 · PMC2488326 · BMC medical genetics · 2008 · 7 claims · 5 setups

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SNPs in DSB signalling genes may modulate predisposition to bladder cancer and influence effects of environmental exposures

peripheral case-control unphased extracted snp confirmatory logistic
mtDNA nt13708A variant increases the risk of multiple sclerosis.

PMID 18270557 · PMC2217590 · PloS one · 2008 · 8 claims · 5 setups

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The mtDNA nt13708 G/A polymorphism (nt13708A allele) is significantly associated with increased risk of MS (OR=1.71, P=0.0002) across three well-matched European cohorts.

peripheral pooled mtdna snp meta-analysis complete
The D2 dopamine receptor gene and nicotine dependence among bladder cancer patients and controls.

PMID 19842028 · PMC3719969 · Behavior genetics · 2010 · 8 claims · 5 setups

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Among ever-smoking controls, A1 and B1 genotypes were associated with greater smoking intensity and younger age at smoking initiation than A2A2/B2B2

peripheral bladder current genotype pcr-rflp structured fagerström
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
The association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study.

PMID 16688411 · PMC3451703 · The journal of headache and pain · 2006 · 7 claims · 3 setups

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No association was found between COMT Val158Met polymorphism and migraine in a population-based sample.

peripheral population hunt genotyping structured extraction
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

PMID 19038017 · PMC2611973 · BMC medical genetics · 2008 · 6 claims · 3 setups

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A novel 4-base insertion mutation (1114insGAGT) in exon 2 of CDMP1 underlies Grebe-type chondrodysplasia in this Pakistani family

peripheral genomic microsatellite direct mutation
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
The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients.

PMID 11207040 · PMC2363769 · British journal of cancer · 2001 · 5 claims · 1 setups

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The carrier frequency of the three predominant Jewish BRCA1/2 mutations in unselected Ashkenazi CRC patients (1.78%) is similar to that reported in the general Ashkenazi population.

peripheral pcr-rflp
Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.

PMID 11720476 · PMC2375261 · British journal of cancer · 2001 · 8 claims · 5 setups

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I1307K APC germline mutation carriers were identified in 28 of 307 (9.1%) unselected Israeli CRC patients

genomic pcr unselected i1307k mutation sequencing clinical
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
In B-CLL, the codon 72 polymorphic variants of p53 are not related to drug resistance and disease prognosis.

PMID 16109171 · PMC1208864 · BMC cancer · 2005 · 7 claims · 5 setups

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The p53 codon 72 polymorphism is not associated with drug resistance or overall survival in B-CLL

peripheral fresh b-cll sscp-pcr disc kaplan-meier
The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

PMID 15799783 · PMC1079842 · BMC medical genetics · 2005 · 7 claims · 4 setups

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The GABBR1 G1465A polymorphism is not associated with TLE preceded by febrile seizures, failing to replicate the prior positive association

peripheral clinical pcr-rflp single sequencing
A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups

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The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals

peripheral g2385r patients genotype pcr full clinical
Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome.

PMID 16700915 · PMC1482678 · Cardiovascular diabetology · 2006 · 8 claims · 6 setups

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A haplotype of three AdipoR2 variants (+795G/A, +870C/A, +963C/T) in perfect linkage disequilibrium is associated with higher plasma adiponectin levels and lower fasting triglyceride, VLDL-triglyceride, and VLDL-cholesterol levels

peripheral plasma subjects adipor1 sequencing plasma preparative

Experiments

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

Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.

A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.

Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population.

The FAS gene, brain volume, and disease progression in Alzheimer's disease.

Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.

Analysis of variants in DNA damage signalling genes in bladder cancer.

mtDNA nt13708A variant increases the risk of multiple sclerosis.

The D2 dopamine receptor gene and nicotine dependence among bladder cancer patients and controls.

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

The association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study.

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.

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

The frequency of the predominant Jewish mutations in BRCA1 and BRCA2 in unselected Ashkenazi colorectal cancer patients.

Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.

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

In B-CLL, the codon 72 polymorphic variants of p53 are not related to drug resistance and disease prognosis.

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome.