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).

• Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

  PMID 20037586 · PMC2812627 · Nature genetics · 2010 · 8 claims · 8 setups

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  Heterozygous missense mutations in TRPV4 (c.805C>T/R269C and c.806G>A/R269H) cause CMT2C

  cmt2c affected spinal drg genetic sanger quantitative

• Canine tumor cross-species genomics uncovers targets linked to osteosarcoma progression.

  PMID 20028558 · PMC2803201 · BMC genomics · 2009 · 8 claims · 7 setups

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  High expression of IL-8 and SLC1A3, identified via cross-species mining, is associated with poor outcome in an independent population of human osteosarcoma patients

  canine osteosarcoma independent third oligonucleotide cross-species quantitative

• A taxonomy of epithelial human cancer and their metastases.

  PMID 20017941 · PMC2806369 · BMC medical genomics · 2009 · 8 claims · 6 setups

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  Unsupervised hierarchical clustering of 1566 primary epithelial tumors yields large tissue-enriched clusters (breast, colon/GI, lung, ovary, kidney) plus smaller prostate, thyroid-kidney, and mixed clusters

  epithelial tumor metastatic breast microarray gene fisher

• Stable patterns of gene expression regulating carbohydrate metabolism determined by geographic ancestry.

  PMID 20016837 · PMC2790609 · PloS one · 2009 · 8 claims · 6 setups

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  151 'geo-ancestral genes' were identified that are both differentially expressed between AA and CAU subjects and contain SNPs distinguishing YRI (African) from CEU (European) HapMap populations

  leukocytes leukocyte-derived archived comparison whole-genome quantitative snp

• SeqBuster, a bioinformatic tool for the processing and analysis of small RNAs datasets, reveals ubiquitous miRNA modifications in human embryonic cells.

  PMID 20008100 · PMC2836562 · Nucleic acids research · 2010 · 8 claims · 6 setups

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  SeqBuster is a versatile web-based and stand-alone bioinformatic toolkit for processing and analyzing large-scale small RNA deep sequencing datasets.

  embryonic hesc small sequence adapter

• Multi-organ expression profiling uncovers a gene module in coronary artery disease involving transendothelial migration of leukocytes and LIM domain binding 2: the Stockholm Atherosclerosis Gene Expression (STAGE) study.

  PMID 19997623 · PMC2780352 · PLoS genetics · 2009 · 8 claims · 6 setups

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  Functionally associated gene modules, not individual genes, underlie CAD development and can be identified via multi-organ expression clustering

  liver atherosclerotic 128-gene independent two-way gene bioinformatic

• Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

  PMID 19967551 · PMC7370861 · Journal of clinical immunology · 2010 · 8 claims · 8 setups

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  Three unrelated Argentinean HLH patients carry an identical novel homozygous 4-bp deletion (c.581_584delTGCC; p.Leu194ProfsX2) in STX11

  genomic peripheral blood fresh direct snp rt-pcr

• 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

• The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity.

  PMID 19936068 · PMC2774515 · PloS one · 2009 · 8 claims · 7 setups

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  Haplogroup J1 background greatly increases sensitivity of LHON cells (11778/ND4 and 14484/ND6 mutations) to 2,5-HD toxicity

  cybrids fibroblasts digitonin-permeabilized cybrid mtt atp complete

• Expansion of the human mitochondrial proteome by intra- and inter-compartmental protein duplication.

  PMID 19930686 · PMC3091328 · Genome biology · 2009 · 8 claims · 6 setups

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  The human mitochondrial proteome expanded via two prevailing gene duplication modes: intra-mitochondrial and inter-compartmental duplication

  cerevisiae mitocarta mitochondrial tissues comparative subcellular gene

• Genomic and phenotypic variation in epidemic-spanning Salmonella enterica serovar Enteritidis isolates.

  PMID 19922635 · PMC2784474 · BMC microbiology · 2009 · 8 claims · 6 setups

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  S. Enteritidis isolates show a high degree of genetic homogeneity/uniformity across typing methods and CGH despite geographic, temporal and source differences.

  enteritidis selected uruguayan caco-2 rapd-pcr pfge comparative

• Glioblastoma subclasses can be defined by activity among signal transduction pathways and associated genomic alterations.

  PMID 19915670 · PMC2771920 · PloS one · 2009 · 8 claims · 6 setups

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  Proteomic analysis of glioma samples reveals three signaling subclasses of GBM associated with predominant EGFR activation, PDGFR activation, or loss of NF1

  surgical standardized glioma gbm western principal k-means

• The vaginal bacterial communities of Japanese women resemble those of women in other racial groups.

  PMID 19912342 · PMC2868947 · FEMS immunology and medical microbiology · 2010 · 7 claims · 5 setups

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  The types of vaginal bacterial communities found in Japanese women closely resemble those previously found in White and Black North American women.

  vaginal japanese t-rflp clone cluster

• A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced pluripotent stem cells.

  PMID 19911041 · PMC2766639 · PLoS genetics · 2009 · 8 claims · 7 setups

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  Padlock probes combined with high-throughput sequencing enable accurate, quantitative, low-bias digital RNA allelotyping of allele-specific expression

  genomic pgp1 skin fibroblasts padlock quantitative gene

• The i-motif in the bcl-2 P1 promoter forms an unexpectedly stable structure with a unique 8:5:7 loop folding pattern.

  PMID 19908860 · PMC2787777 · Journal of the American Chemical Society · 2009 · 8 claims · 6 setups

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  The full-length bcl-2 C-rich promoter sequence (Py39WT) forms one major intramolecular i-motif structure with a transitional pH of 6.6

  py39wt fam 32p-labeled circular melting fret

• Tissue compartment analysis for biomarker discovery by gene expression profiling.

  PMID 19901995 · PMC2771357 · PloS one · 2009 · 8 claims · 5 setups

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  TCA method quantifies the fractional volume of constitutive structures in a heterogeneous tissue sample by comparing marker mRNA levels in the whole sample to those in pure isolated structures

  kidney pure serial rt-pcr sage histo-morphometry

• A proteomic approach for plasma biomarker discovery with iTRAQ labelling and OFFGEL fractionation.

  PMID 19888438 · PMC2771280 · Journal of biomedicine & biotechnology · 2010 · 6 claims · 6 setups

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  iTRAQ labelling combined with OFFGEL fractionation improves proteome coverage of human plasma compared to iTRAQ alone or no iTRAQ

  pooled plasma prefractionated immunodepleted itraq 1-dimensional fluorescence-based

• Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans.

  PMID 19860882 · PMC2775748 · BMC genetics · 2009 · 8 claims · 8 setups

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  A set of 47 SNPs selected via the 4gen pairwise F_ST approach serves as an ASM panel distinguishing four continental groups (African, Eurasian, Asian/Oceanian, Native American)

  ycc individuals hgdp-ceph asm snp structure pairwise

• Proteomics analysis of human skeletal muscle reveals novel abnormalities in obesity and type 2 diabetes.

  PMID 19833877 · PMC2797941 · Diabetes · 2010 · 7 claims · 5 setups

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  Mitochondrial protein abundance is decreased in insulin-resistant (obese and type 2 diabetic) skeletal muscle

  skeletal volunteers bsa shotgun euglycemic-hyperinsulinemic immunoblot

• Empirical Bayes analysis of quantitative proteomics experiments.

  PMID 19829701 · PMC2759080 · PloS one · 2009 · 8 claims · 4 setups

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  Developed a new empirical Bayes framework that models log2 SILAC protein ratios and is robust to non-Gaussian tails and data sparsity, unlike Gaussian mixture models or Efron's original spline-based approach

  hela predicted computational silac utr gaussian