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).

• Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.

  PMID 18334955 · PMC2268852 · Molecular vision · 2008 · 7 claims · 4 setups

  Full-text index only

  MFRP mutations were previously reported to cause nanophthalmos and a distinct microphthalmos/retinitis pigmentosa/foveoschisis syndrome, motivating it as a candidate gene for axial length regulation

  genomic multiplex direct pcr taqman

• A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.

  PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups

  Full-text index only

  A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.

  genomic pax6 direct microsatellite blast

• A non-parametric meta-analysis approach for combining independent microarray datasets: application using two microarray datasets pertaining to chronic allograft nephropathy.

  PMID 18302764 · PMC2276496 · BMC genomics · 2008 · 8 claims · 6 setups

  Full-text index only

  A novel non-parametric meta-analysis approach for combining independent microarray datasets is presented, requiring no distributional assumptions and being logically intuitive.

  kidney same identified additional microarray significance fisher's

• Peripheral blood B lymphocytes derived from patients with idiopathic pulmonary arterial hypertension express a different RNA pattern compared with healthy controls: a cross sectional study.

  PMID 18269757 · PMC2262076 · Respiratory research · 2008 · 7 claims · 4 setups

  Full-text index only

  IPAH patients' peripheral blood B-lymphocytes express a distinct RNA profile compared with healthy controls

  peripheral pbmc oligonucleotide flow density

• Of brain and bone: the unusual case of Dr. A.

  PMID 20183548 · PMC2997763 · Neurocase · 2009 · 7 claims · 8 setups

  Full-text index only

  Dr. A's EXT2 mutation may play a role in the pattern of neurodegeneration seen in his FTD, given that Ext1-knockout mice show CNS defects including loss of olfactory bulbs and abnormally small cerebral cortex

  structural blood postmortem muscle voxel-based genetic neuropathology

• Immunohistochemical and proteomic evaluation of nuclear ubiquitous casein and cyclin-dependent kinases substrate in invasive ductal carcinoma of the breast.

  PMID 20069058 · PMC2801467 · Journal of biomedicine & biotechnology · 2009 · 7 claims · 5 setups

  Full-text index only

  NUCKS is highly overexpressed in invasive ductal carcinoma (IDC) of the breast compared to matched normal tissue.

  matched idc nucks rabbits lc-ms sds-page western

• 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

  Full-text index only

  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

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

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

  Full-text index only

  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

• Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

  PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups

  Full-text index only

  Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)

  families genes individuals kidney genome-wide sanger resequencing

• Functional proteomics of failed filtering blebs.

  PMID 20019882 · PMC2793902 · Molecular vision · 2009 · 8 claims · 6 setups

  Full-text index only

  Eight proteins are differentially expressed between failed filtering bleb Tenon's tissue and control Tenon's capsule, identified by 2D-electrophoresis proteomics and MALDI-TOF MS

  tenon's nih3t3 gel western immunohistochemistry

• A taxonomy of epithelial human cancer and their metastases.

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

  Full-text index only

  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

• We are the genes we've been waiting for: rational responses to the gathering storm of personal genomics.

  PMID 19998110 · PMC3749831 · The American journal of bioethics : AJOB · 2009 · 8 claims · 5 setups

  Full-text index only

  Medical establishment critics dismissed PGT information in 2008 as either not worth much or dangerous

  social women relatives individuals survey epidemiological genetic

• The role of proteomics in depression research.

  PMID 19997739 · PMC2940035 · European archives of psychiatry and clinical neuroscience · 2010 · 8 claims · 8 setups

  Full-text index only

  Proteomics offers a complementary, functional-endpoint approach that can elucidate MDD pathophysiological mechanisms and biomarkers beyond transcriptomic/targeted studies

  postmortem schizophrenia frontal hypothalamus gel shotgun proteome

• Gene- and evidence-based candidate gene selection for schizophrenia and gene feature analysis.

  PMID 19944577 · PMC2826526 · Artificial intelligence in medicine · 2010 · 8 claims · 5 setups

  Full-text index only

  The SCOR method outperforms the CCOR method for prioritizing schizophrenia candidate genes

  schizophrenia genes ranked gene-based gene expression

• Exome sequencing identifies the cause of a mendelian disorder.

  PMID 19915526 · PMC2847889 · Nature genetics · 2010 · 8 claims · 7 setups

  Full-text index only

  Exome sequencing of a small number of unrelated affected individuals, combined with filtering against public SNP databases and HapMap exomes, is sufficient to identify the causal gene for a monogenic disorder of unknown etiology.

  patients chromosomes dhodh utero exome directed sanger

• Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

  PMID 19901218 · PMC3514888 · Archives of ophthalmology (Chicago, Ill. : 1960) · 2009 · 8 claims · 4 setups

  Full-text index only

  No COL2A1 mutations were found, making ocular Stickler syndrome an unlikely diagnosis for this family

  genomic family complete pcr clinical

• Increasing the number of thyroid lesions classes in microarray analysis improves the relevance of diagnostic markers.

  PMID 19893615 · PMC2764086 · PloS one · 2009 · 8 claims · 8 setups

  Full-text index only

  Simultaneous analysis of 347 thyroid samples across 12 histological classes from six datasets improves definition of diagnostic markers compared to prior binary-class studies

  thyroid microarray gene real-time

• MALDI profiling of human lung cancer subtypes.

  PMID 19890392 · PMC2767501 · PloS one · 2009 · 8 claims · 8 setups

  Full-text index only

  PIMAC/MALDI-TOF peptide profiles combined with classification models can distinguish normal lung from tumor and differentiate NSCLC histological subtypes

  lung tryptic peak ffpe maldi-tof parallel stepwise

• Serum S100A6 concentration predicts peritoneal tumor burden in mice with epithelial ovarian cancer and is associated with advanced stage in patients.

  PMID 19888321 · PMC2765613 · PloS one · 2009 · 8 claims · 8 setups

  Full-text index only

  Serum S100A6 concentration correlates with peritoneal tumor burden in a mouse OVCA xenograft model, based on inverse regression calibration against bioluminescent imaging data.

  serum skov-3 pooled ovca lc-ms antigen whole-animal

• Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

  PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups

  Full-text index only

  Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21

  genomic ush2 ush2a sscp audiological ophthalmological