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).

• Assaying chromosomal inversions by single-molecule haplotyping.

  PMID 16721377 · PMC2690135 · Nature methods · 2006 · 8 claims · 4 setups

  Full-text index only

  Haplotype Fusion PCR (HF-PCR) juxtaposes sequences flanking an inversion breakpoint on single DNA molecules via emulsion PCR, generating orientation-specific fusion products diagnostic of inversion genotype

  genomic yac haplotype pulsed template

• Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

  PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups

  Full-text index only

  Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma

  peripheral genomic ebv-transformed conformation pira-pcr rt-pcr

• Editing of hnRNP K protein mRNA in colorectal adenocarcinoma and surrounding mucosa.

  PMID 16404425 · PMC2361188 · British journal of cancer · 2006 · 7 claims · 8 setups

  Full-text index only

  A G274A base substitution in hnRNP K mRNA is present in colorectal tumours and surrounding mucosa but absent from corresponding genomic DNA, indicating an RNA editing event rather than a germline polymorphism.

  colorectal cdna matched thyroid rt-pcr restriction genomic

• Construction of a nasopharyngeal carcinoma 2D/MS repository with Open Source XML database--Xindice.

  PMID 16403238 · PMC1351203 · BMC bioinformatics · 2006 · 8 claims · 4 setups

  Full-text index only

  No NPC proteome database existed prior to this work despite availability of other cancer proteome databases

  nasopharyngeal excised subset monoisotopic 2-de maldi-tof q-tof

• Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

  PMID 18162506 · PMC7611804 · Diabetes · 2008 · 8 claims · 8 setups

  Full-text index only

  Heterozygous INS mutations are a common cause of permanent neonatal diabetes (PNDM) diagnosed before 6 months of age

  peripheral patients mody young-onset pcr microsatellite variant

• Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.

  PMID 18087273 · PMC2361463 · British journal of cancer · 2008 · 8 claims · 5 setups

  Full-text index only

  The malignant brain tumours in patients III-1, III-3, and III-4, originally classified as anaplastic ependymomas, are in fact atypical teratoid/rhabdoid tumours (AT/RT)

  constitutional formalin-fixed tumour blood sanger denaturing immunohistochemistry

• On the analysis of glycomics mass spectrometry data via the regularized area under the ROC curve.

  PMID 18076765 · PMC2211327 · BMC bioinformatics · 2007 · 8 claims · 4 setups

  Full-text index only

  The TGDR-AUC algorithm regularizes the empirical AUC by replacing the non-differentiable 0-1 loss with a smooth sigmoid surrogate function and applies constrained threshold gradient descent regularization

  simulated serum preprocessed simulation mass high-resolution

• Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.

  PMID 17895983 · PMC1976591 · PloS one · 2007 · 8 claims · 5 setups

  Full-text index only

  Sequencing of complete mtDNA genomes in 23 pediatric patients identified 27 significant variants (12 novel, 15 known) associated with mitochondrial encephalomyopathies.

  blood-derived lymphocytes maternal wild-type complete respiratory pcr-rflp

• FGFR3 protein expression and its relationship to mutation status and prognostic variables in bladder cancer.

  PMID 17668422 · PMC2443273 · The Journal of pathology · 2007 · 8 claims · 4 setups

  Full-text index only

  FGFR3 mutations occur in 42% of primary urothelial carcinomas and are significantly associated with low tumour grade and stage

  urothelial tumour direct manual immunohistochemistry

• Detection of venous thromboembolism by proteomic serum biomarkers.

  PMID 17579716 · PMC1891085 · PloS one · 2007 · 5 claims · 8 setups

  Full-text index only

  A neural network-based classifier built from direct MALDI-TOF MS serum protein expression profiles can diagnose VTE with sensitivity/specificity that exceeds D-dimer assays

  serum anova-selected citrated depleted direct artificial d-dimer

• Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.

  PMID 17515881 · PMC2669507 · Molecular vision · 2007 · 8 claims · 6 setups

  Full-text index only

  Five RS1 mutations (c.574C>T, c.583A>G, c.608C>T, c.617G>A, c.637C>T) were identified in exon 6 of six unrelated Indian XLRS patients

  genomic pcr xlrs retinoschisin pcr-sscp direct rflp

• Plasma proteomics of pancreatic cancer patients by multi-dimensional liquid chromatography and two-dimensional difference gel electrophoresis (2D-DIGE): up-regulation of leucine-rich alpha-2-glycoprotein in pancreatic cancer.

  PMID 17303479 · PMC7105233 · Journal of chromatography. B, Analytical technologies in the biomedical and life sciences · 2007 · 5 claims · 5 setups

  Full-text index only

  Pre-fractionation of plasma with immuno-affinity depletion and anion-exchange chromatography prior to 2D-DIGE substantially increases the number of detectable protein spots compared with unfractionated plasma.

  plasma excised fractionated 2d-dige multi-dimensional lc-ms

• Genetic distance and heterogenecity between quasispecies is a critical predictor to IFN response in Egyptian patients with HCV genotype-4.

  PMID 17300723 · PMC1805740 · Virology journal · 2007 · 7 claims · 7 setups

  Full-text index only

  Genetic distance and heterogeneity between HCV quasispecies is a critical predictor of IFN response in Egyptian genotype-4 patients

  serum pcr cloned 5'utr rt-pcr molecular sequencing

• VEGF, FGF1, FGF2 and EGF gene polymorphisms and psoriatic arthritis.

  PMID 17204151 · PMC1781940 · BMC musculoskeletal disorders · 2007 · 7 claims · 5 setups

  Full-text index only

  The T allele of VEGF +936 (rs3025039) is significantly less frequent in PsA cases than in controls, suggesting a protective effect against PsA.

  blood same subject psa snp allele hardy-weinberg

• Genomics: applications in mechanism elucidation.

  PMID 19166886 · PMC2698023 · Advanced drug delivery reviews · 2009 · 8 claims · 8 setups

  Full-text index only

  Genomic tools require no a priori knowledge of a compound's mode of action and can reveal biological pathways (metabolism, distribution, off-target effects) in addition to the precise mechanism of action.

  extract panel saccharomyces inbred affinity cytotoxicity genome-wide

• Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.

  PMID 19096718 · PMC2603445 · Molecular vision · 2008 · 7 claims · 5 setups

  Full-text index only

  CYP1B1 mutations are implicated in POAG among Iranians, notably in the juvenile-onset form

  genomic cyp1b1 poag microarray-based dideoxy sanger

• Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

  PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups

  Full-text index only

  OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.

  genomic ghanaian pcr taqman logistic

• A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

  PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

  Full-text index only

  A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

  blood-derived patient-derived serum genomic direct rt-pcr gelatin

• Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

  PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups

  Full-text index only

  Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).

  genomic oa1 one gpr143 pcr heteroduplex junction-fragment

• "Sequencing-grade" screening for BRCA1 variants by oligo-arrays.

  PMID 18973698 · PMC2583995 · Journal of translational medicine · 2008 · 7 claims · 6 setups

  Full-text index only

  An oligo-array platform can detect BRCA1 SNPs, insertions, and deletions of known and unknown variants, including in heterozygous conditions, with accuracy comparable to direct sequencing

  genomic pcr mcf-10a brca1 oligo-nucleotide direct pcr