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).

• Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

  PMID 18237401 · PMC2276215 · Lipids in health and disease · 2008 · 8 claims · 4 setups

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  Two distinct heterozygous frameshift mutations in CAV1 (I134fsdelA-X137 and -88delC) were identified in patients with atypical partial lipodystrophy and severe hypertriglyceridemia

  genomic sequence restriction allele-specific

• HIV-1 gp120 N-linked glycosylation differs between plasma and leukocyte compartments.

  PMID 18215327 · PMC2265691 · Virology journal · 2008 · 8 claims · 6 setups

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  N-linked glycosylation of HIV-1 gp120 differs between plasma and leukocyte compartments

  plasma hiv-1 nlg presence env phylogenetic signature

• The mammalian phenotype ontology: enabling robust annotation and comparative analysis.

  PMID 20052305 · PMC2801442 · Wiley interdisciplinary reviews. Systems biology and medicine · 2009 · 8 claims · 6 setups

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  The Mammalian Phenotype (MP) Ontology enables classification and organization of phenotypic data for mouse and other mammalian species in a computationally useful, standardized manner.

  genotypes neural inbred viable phenotype phylogenetic comparative

• Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.

  PMID 20029656 · PMC2796875 · Molecular vision · 2009 · 6 claims · 5 setups

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  No disease-causing mutations in COL4A3 or COL4A4 were found to be related to KC.

  genomic patients pcr sequencing genetic

• PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

  PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups

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  None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland

  blood finnish combined formalin-fixed direct additional statistical

• 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

• Visual exploration of genetic association with voxel-based imaging phenotypes in an MCI/AD study.

  PMID 19963597 · PMC2928997 · Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference · 2009 · 6 claims · 4 setups

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  Developed an imaging genomic browsing system allowing whole genome and entire brain analyses via visual exploration

  mci same voxel-based snp genotype

• DNA methylation of cancer genome.

  PMID 19960550 · PMC2940836 · Birth defects research. Part C, Embryo today : reviews · 2009 · 8 claims · 7 setups

  Full-text index only

  Cancer epigenome alterations fall into two main categories: hypermethylation of tumor suppressor genes and hypomethylation of oncogenes or heterochromatin.

  embryonic germ heterozygous cancer gene hypomorphic methyltransferase

• The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

  PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups

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  Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains

  genomic hair-root reference patients pcr screening multi-tissue

• Profiling critical cancer gene mutations in clinical tumor samples.

  PMID 19924296 · PMC2774511 · PloS one · 2009 · 7 claims · 4 setups

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  OncoMap, a panel of ~400 mass-spectrometric genotyping assays targeting 33 cancer genes, enables robust mutation profiling of clinical fresh-frozen and FFPE tumor DNA.

  clinical fresh same pediatric mass sanger barcoded

• The heterogeneous allelic repertoire of human toll-like receptor (TLR) genes.

  PMID 19924287 · PMC2773936 · PloS one · 2009 · 8 claims · 8 setups

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  Human TLR genes are unequally polymorphic: TLR2, 4, 7, 8 and 9 are comparatively least diverse, whereas TLR1, 5, 6 and 10 show substantial allelic diversity.

  tlr10 tlr5 tlr1 tlr6 pcr-based

• In vivo pharmaco-proteomic analysis of hydroxyurea induced changes in the sickle red blood cell membrane proteome.

  PMID 19914412 · PMC2818491 · Journal of proteomics · 2010 · 8 claims · 4 setups

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  2D-DIGE combined with tandem mass spectrometry identified 32 distinct sickle RBC membrane proteins that significantly changed in abundance after in vivo HU therapy

  sickle excised patients 2d-dige tandem immunoblot

• Proteomic identification of heterogeneous nuclear ribonucleoprotein L as a novel component of SLM/Sam68 Nuclear Bodies.

  PMID 19912651 · PMC2784748 · BMC cell biology · 2009 · 7 claims · 7 setups

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  hnRNP L is a novel Sam68-interacting protein partner identified by proteomics and confirmed by co-immunoprecipitation

  lncap hek293 nih3t3 co-immunoprecipitation sucrose indirect

• Variation in genetic admixture and population structure among Latinos: the Los Angeles Latino eye study (LALES).

  PMID 19903357 · PMC3087512 · BMC genetics · 2009 · 7 claims · 6 setups

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  LALES Latinos show strong evidence of recent population admixture, primarily from Native American and European ancestries with smaller Asian and African contributions.

  lales native genotyping structure hardy-weinberg

• Isolated eyelid closure myotonia in two families with sodium channel myotonia.

  PMID 19876661 · PMC2854355 · Neurogenetics · 2010 · 6 claims · 5 setups

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  The L250P mutation in SCN4A is associated with a strictly isolated eyelid closure myotonia phenotype

  patients blood index standardized needle direct

• Sequence variations of GRM6 in patients with high myopia.

  PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups

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  Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls

  genomic pcr mglur6 grm6 pcr heteroduplex pcr-restriction

• Genetic characterization of 2006-2008 isolates of Chikungunya virus from Kerala, South India, by whole genome sequence analysis.

  PMID 19851853 · PMC7088544 · Virus genes · 2010 · 8 claims · 7 setups

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  37 novel mutations were identified across the six sequenced CHIKV genomes, predominantly in 2007 and 2008 isolates

  serum vero chikv additional rt-pcr virus whole-genome

• Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample.

  PMID 19844207 · PMC2797562 · Molecular psychiatry · 2010 · 8 claims · 7 setups

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  rs1344706 in ZNF804A is associated with schizophrenia in the Irish ICCSS sample, replicating the original Cardiff finding

  irish iccss postmortem genomic snp haplotype logistic

• NeMeSys: a biological resource for narrowing the gap between sequence and function in the human pathogen Neisseria meningitidis.

  PMID 19818133 · PMC2784325 · Genome biology · 2009 · 8 claims · 5 setups

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  Determined and manually annotated the complete genome sequence of N. meningitidis clinical isolate strain 8013

  meningitidis archived strain neisseria whole-genome transposon targeted

• Genetic polymorphisms of Echinococcus tapeworms in China as determined by mitochondrial and nuclear DNA sequences.

  PMID 19800346 · PMC2823955 · International journal for parasitology · 2010 · 8 claims · 7 setups

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  Species identification by mitochondrial (cox1) and nuclear (ef1a) markers was identical across isolates, indicating introgressive hybridization among sympatric Echinococcus species is infrequent.

  granulosus multilocularis shiquicus echinococcus mitochondrial nuclear statistical