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).

• Examination of tetrahydrobiopterin pathway genes in autism.

  PMID 19674121 · PMC2784255 · Genes, brain, and behavior · 2009 · 8 claims · 6 setups

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  PTS (6-pyruvoyl-tetrahydropterin synthase) shows significant nominal association with autism (p=0.009), not restricted to affected-male-only subset

  non-hispanic subset trios case snp two-point pedigree

• 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

• Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.

  PMID 17324265 · PMC1810516 · BMC medical genetics · 2007 · 8 claims · 3 setups

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  Developed a real-time TaqMan PCR method that quantifies PARK2 exon 1-12 copy number by comparing amplification signal to the β-globin internal control gene

  genomic same real-time prior

• Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida.

  PMID 18553462 · PMC2630518 · Birth defects research. Part A, Clinical and molecular teratology · 2008 · 7 claims · 3 setups

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  NNMT was identified in a genome-wide linkage scan (Souto et al., 2005) as an important regulator of plasma homocysteine concentration in a Spanish population.

  infants infant same snp case-control haplotype

• Headloop suppression PCR and its application to selective amplification of methylated DNA sequences.

  PMID 16091627 · PMC1184225 · Nucleic acids research · 2005 · 8 claims · 5 setups

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  Headloop PCR: a 5' primer extension homologous to internal amplicon sequence causes hairpin formation after incorporation, suppressing further amplification of the matching sequence while unaffected sequences amplify normally

  plasmid genomic bacterial real-time methylation-specific

• Detection of chromosomal structural alterations in single cells by SNP arrays: a systematic survey of amplification bias and optimized workflow.

  PMID 18074030 · PMC2111048 · PloS one · 2007 · 8 claims · 7 setups

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  MDA-based single-cell whole-genome amplification (S-WGA) products show large variability in amplification bias, including allele dropout and preferential amplification.

  lymphoblastoid lcl cmk11-5 gel taqman oligonucleotide

• Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

  PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups

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  Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients

  patients nd10588 lymphoblastoid neuroglioma sanger taqman copy-number

• 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

• Targeted KRAS mutation assessment on patient tumor histologic material in real time diagnostics.

  PMID 19888477 · PMC2768905 · PloS one · 2009 · 8 claims · 5 setups

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  Q-PCR methods yield informative KRAS mutation results even on very fragmented FFPE-DNA where dideoxy-sequencing fails (p<0.0001)

  ffpe dideoxy-sequencing taqman-mgb dxs-kras

• SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes.

  PMID 16381944 · PMC1347513 · Nucleic acids research · 2006 · 7 claims · 4 setups

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  SNP500Cancer provides sequence and genotype assay information for candidate cancer-related SNPs to support molecular epidemiology and complex disease mapping studies

  anonymized coriell bi-directional taqman mgb

• Genomic and proteomic profiling I: leiomyomas in African Americans and Caucasians.

  PMID 17716379 · PMC2063502 · Reproductive biology and endocrinology : RB&E · 2007 · 7 claims · 6 setups

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  268 genes (177 over-expressed, 91 under-expressed) are differentially expressed in leiomyomas of African Americans compared to Caucasians (P<0.01, 2-fold cutoff)

  paired same excised paraffin-embedded microarray realtime 2d-page

• Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

  PMID 17554261 · PMC2628541 · Nature genetics · 2007 · 8 claims · 8 setups

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  IRGM SNPs (rs13361189, rs4958847) show strong replicated association with Crohn disease; IRGM induces autophagy and control of intracellular bacteria

  wtccc replication population cases genome-wide taqman snp

• Functional genomics in zebrafish permits rapid characterization of novel platelet membrane proteins.

  PMID 19109564 · PMC2680375 · Blood · 2009 · 8 claims · 6 setups

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  Zebrafish morpholino knockdown combined with a laser-induced arterial thrombosis assay is a fast, powerful method for initial functional screening of novel platelet genes.

  blood platelets platelet-rich platelet whole-genome quantitative flow

• K-RAS and P53 mutations in association with COX-2 and hTERT expression and clinico-pathological status of NSCLC patients.

  PMID 18957720 · PMC3827803 · Disease markers · 2008 · 8 claims · 6 setups

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  P53 mutations were identified in 34.4% of NSCLC tumours, most frequently in SCC (55.6%)

  nsclc dhplc quantitative clinical

• LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease.

  PMID 18752982 · PMC2761091 · Parkinsonism & related disorders · 2009 · 8 claims · 4 setups

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  LRRK2 G2019S mutation frequency was 1.56% in total PD, higher in familial PD (3.5%) than sporadic PD (0.3%)

  genomic genotype mutation taqman association

• Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.

  PMID 18270997 · PMC2909109 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups

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  The G/A and A/A genotypes of G472A (Val158Met) are point-wise significantly associated with opiate addiction in Hispanic women but not men (P=0.049)

  genomic opioid-dependent subjects direct taqman statistical

• Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.

  PMID 19949810 · PMC2865568 · Journal of neurology · 2010 · 7 claims · 4 setups

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  CNVs are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

  unrelated genomic mtmr2 array quantitative sanger

• Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.

  PMID 19727905 · PMC2946578 · Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2010 · 7 claims · 6 setups

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  Multiple SNPs and haplotypes in FLNB are significantly associated with BMD at lumbar spine, femoral neck, and total hip

  southern same subjects genotype tag taqman dual-energy

• A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

  PMID 19668596 · PMC2722711 · Molecular vision · 2009 · 8 claims · 6 setups

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  A novel heterozygous CRYGD mutation c.43C>A (R15S) causes congenital coralliform cataract in Family A

  family genomic crygd lens two-point microsatellite direct

• The effect of IL-13 and IL-13R130Q, a naturally occurring IL-13 polymorphism, on the gene expression of human airway smooth muscle cells.

  PMID 15661077 · PMC548512 · Respiratory research · 2005 · 6 claims · 3 setups

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  IL-13 and IL-13R130Q modulate the same set of genes in human airway smooth muscle cells (HASMC)

  airway hasmc cdna taqman flow