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).

• The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.

  PMID 18781223 · PMC2532703 · Molecular vision · 2008 · 8 claims · 4 setups

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  None of the three MFRP sequence variants tested (rs3814762, rs36015759, rs2510143) showed a statistically significant association with acute angle-closure glaucoma

  genomic same eyes pcr genotype linkage

• Cannabinoid type-1 receptor gene polymorphisms are associated with central obesity in a Southern Brazilian population.

  PMID 18776593 · PMC3827795 · Disease markers · 2008 · 8 claims · 5 setups

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  The CNR1 4895G allele is associated with waist-to-hip ratio (WHR)

  peripheral same pcr-rflp anthropometric biochemical

• Isolated populations and complex disease gene identification.

  PMID 18771588 · PMC2575505 · Genome biology · 2008 · 8 claims · 5 setups

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  Isolated/founder populations are useful for identifying genes underlying common complex diseases, not just rare monogenic diseases.

  genetically icelandic finnish hutterites linkage genome-wide

• Integrated genomics identifies five medulloblastoma subtypes with distinct genetic profiles, pathway signatures and clinicopathological features.

  PMID 18769486 · PMC2518524 · PloS one · 2008 · 8 claims · 4 setups

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  Unsupervised clustering of expression profiles from 62 medulloblastomas identifies 5 molecular subtypes (A–E)

  relapsed medulloblastoma independent expression array targeted

• Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

  PMID 18701470 · PMC2562548 · Cancer research · 2008 · 7 claims · 4 setups

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  Carriers of common ATM variants (>=1% frequency) have a statistically significant reduction in risk of contralateral breast cancer (CBC)

  peripheral wecare atm mutation case-control variant

• Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

  PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups

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  A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant

  genomic same chx10 pacg pcr case-control cross-species

• 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

• Function2Gene: a gene selection tool to increase the power of genetic association studies by utilizing public databases and expert knowledge.

  PMID 18631403 · PMC2500032 · BMC bioinformatics · 2008 · 6 claims · 5 setups

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  Function2Gene is a set of Perl programs that queries public databases (NCBI, GeneCards, Harvester, with Uniprot/Ensembl also supported) using expert-selected keywords to rank genes by prior probability of disease association.

  gene nuclear sle tdt keyword-based snp transmission

• Current and future directions in genomics of amyotrophic lateral sclerosis.

  PMID 18625410 · PMC3524513 · Physical medicine and rehabilitation clinics of North America · 2008 · 8 claims · 8 setups

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  Familial ALS (FALS, 5-10% of cases) follows Mendelian autosomal dominant inheritance, with 20% caused by SOD1 mutations and 80% by unknown mutations

  american sals dutch irish genome laser expression

• Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.

  PMID 18625075 · PMC2478679 · BMC medical genetics · 2008 · 7 claims · 5 setups

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  A synonymous coding SNP (rs2099489) in CHRNG is associated with higher systolic blood pressure in both the Old Order Amish (AFDS) and the Framingham Heart Study

  amish non-first-degree-relative afds framingham variance direct snp

• Bayesian survival analysis in genetic association studies.

  PMID 18617538 · PMC2530885 · Bioinformatics (Oxford, England) · 2008 · 7 claims · 5 setups

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  A novel Bayesian method (BETA-Surv) extends prior case-control haplotype-clustering work to censored survival outcomes by clustering haplotypes via gene tree/perfect phylogeny topology and relative mutation age.

  simulated same sanad bayesian univariate partial

• Validation of reverse phase protein array for practical screening of potential biomarkers in serum and plasma: accurate detection of CA19-9 levels in pancreatic cancer.

  PMID 18615426 · PMC2992687 · Proteomics · 2008 · 8 claims · 6 setups

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  RPPA-measured CA19-9 levels correlate strongly with ELISA-measured levels in the same patient samples

  serum same pancreatic candidate reverse elisa rppa

• A mouse to human search for plasma proteome changes associated with pancreatic tumor development.

  PMID 18547137 · PMC2504036 · PLoS medicine · 2008 · 7 claims · 8 setups

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  GEM models combined with in-depth proteomic analysis provide a useful strategy to identify candidate cancer markers applicable to human disease with potential for early detection

  plasma immunodepleted pancreatic shotgun two-dimensional immunodepletion

• Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans.

  PMID 18510744 · PMC2424074 · BMC genetics · 2008 · 7 claims · 4 setups

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  Sequencing the TPI1 locus in 357 German long-lived individuals identified 17 polymorphisms, 15 of which were rare and previously unknown

  blood-derived cohort pcr snplex taqman

• A novel GJA8 mutation causing a recessive triangular cataract.

  PMID 18483562 · PMC2375854 · Molecular vision · 2008 · 8 claims · 6 setups

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  A homozygous single base-pair insertion (c.776insG) in GJA8 causes a recessive triangular nuclear cataract in two affected siblings.

  proband's blood-derived genomic family rt-pcr pcr restriction

• Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

  PMID 18281252 · PMC2443276 · Carcinogenesis · 2008 · 7 claims · 4 setups

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  Cigarette smoking is associated with a higher frequency of somatic mtDNA mutations in buccal cells

  buccal subject ttge real-time pcr-based

• 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

• Proteomic analysis of stage I primary lung adenocarcinoma aimed at individualisation of postoperative therapy.

  PMID 18212748 · PMC2243141 · British journal of cancer · 2008 · 5 claims · 6 setups

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  LC-MS/MS proteomic analysis of stage I lung adenocarcinoma specimens identified myosin IIA and vimentin as candidate biomarker proteins with signal intensities that differed significantly among patient outcome groups

  surgically tryptic set lysates lc-ms mascot immunohistochemistry

• A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

  PMID 18197425 · PMC2259258 · Pediatric nephrology (Berlin, Germany) · 2008 · 8 claims · 7 setups

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  Genome-wide linkage analysis identifies several novel loci for primary VUR on chromosomes 1, 3, 4, and 22, supporting genetic heterogeneity.

  patients multiplex index pedigree genome-wide fine-mapping haplotype

• 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