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).

• Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

  PMID 16891820 · PMC2729898 · Journal of Korean medical science · 2006 · 7 claims · 7 setups

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  All three unrelated Korean MM patients carried compound heterozygous mutations in the DYSF gene.

  peripheral dysf chromosomes korean genomic pcr direct

• Getting it right: being smarter about clinical trials.

  PMID 16608383 · PMC1435786 · PLoS medicine · 2006 · 9 claims · 8 setups

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  Bias and confounding in observational studies can produce misleading associations that are overturned by randomized trials (e.g., HRT).

  postmenopausal general patients men randomized population-based large

• Detection of atovaquone-proguanil resistance conferring mutations in Plasmodium falciparum cytochrome b gene in Luanda, Angola.

  PMID 16597338 · PMC1513587 · Malaria journal · 2006 · 6 claims · 4 setups

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  No pfcytb mutations associated with atovaquone-proguanil treatment failure (codon 268 wild type, T802A, A803C) were found in the Luanda study population.

  plasmodium blood second clone pcr-rflp chelex agarose

• PRKCA and multiple sclerosis: association in two independent populations.

  PMID 16596167 · PMC1420678 · PLoS genetics · 2006 · 8 claims · 8 setups

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  PRKCA (protein kinase C alpha) on 17q24 is associated with MS in Finnish families

  finnish canadian unrelated blood snp dense multipoint

• Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas.

  PMID 16545110 · PMC1475604 · BMC cancer · 2006 · 8 claims · 4 setups

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  Smoking is associated with adenoma and CRC development, with the association strongest in tumors lacking APC truncation mutations

  formalin-fixed ffpe paired study direct pcr restriction

• Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families.

  PMID 16539696 · PMC1464093 · BMC medical genetics · 2006 · 7 claims · 6 setups

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  Carriers of the 3398delAAAAG BRCA2 mutation share one of two closely related haplotypes (7-3-9-3-[3/4]-7), consistent with a common ancestral origin.

  french index unaffected mutation-carrier mutation microsatellite haplotype

• Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.

  PMID 16420694 · PMC1382255 · BMC bioinformatics · 2006 · 8 claims · 8 setups

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  SNPscan is a web-accessible tool that displays SNP copy number, genotype call, and LOH p-value data together in a single plot per sample

  lymphoblastoid skin ceph genomic snp array pcr

• Detection of rare mutant K-ras DNA in a single-tube reaction using peptide nucleic acid as both PCR clamp and sensor probe.

  PMID 16432256 · PMC1345699 · Nucleic acids research · 2006 · 8 claims · 5 setups

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  A 17mer PNA spanning K-ras codons 12/13 can serve as both PCR clamp and sensor probe in a single-tube reaction, differentiating all 12 possible point mutations from wild-type by melting temperature shift

  wild-type mixture mutant serial melting real-time limit-of-detection

• Does tumorigenesis select for or against mutations of the DNA repair-associated genes BRCA2 and MRE11?: considerations from somatic mutations in microsatellite unstable (MSI) gastrointestinal cancers.

  PMID 16417627 · PMC1382246 · BMC genetics · 2006 · 8 claims · 7 setups

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  Heterozygous truncating BRCA2 mutations occur in 47% (7/15) of gastrointestinal MSI cancer cell lines/xenografts, a higher rate than previously reported

  gastrointestinal ls174t pl3 msi gene rt-pcr rad51

• 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

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  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

• A focused antibody library for selecting scFvs expressed at high levels in the cytoplasm.

  PMID 18034894 · PMC2241821 · BMC biotechnology · 2007 · 7 claims · 7 setups

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  A human scFv library was built on the single scFv13R4 framework with CDR3 loops diversified to mimic natural human CDR3 amino-acid distributions.

  coli hela filamentous scfv gfp sds-page fluorescence

• Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.

  PMID 17945002 · PMC2242669 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

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  -26G>A polymorphism in the BRCA2 5' UTR is functional: the A allele drives roughly twice the reporter gene expression of the G allele in MCF-7 and HeLa cells

  mcf-7 hela brca2 peripheral luciferase transcription genotyping

• Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours.

  PMID 17940511 · PMC2360241 · British journal of cancer · 2007 · 8 claims · 4 setups

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  Treatment of neuroblastoma cell lines with the HDAC inhibitor trichostatin A (TSA) increased transcription of ERRFI1, PIK3CD, RBP7 and CASZ1, indicating possible epigenetic downregulation of these genes in NB

  lines tumours real-time bisulphite sequencing

• Clustering of phosphorylation site recognition motifs can be exploited to predict the targets of cyclin-dependent kinase.

  PMID 17316440 · PMC1852407 · Genome biology · 2007 · 8 claims · 6 setups

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  CDK consensus motifs are frequently clustered (closely spaced) in known CDK substrate proteins rather than uniformly distributed

  cerevisiae cycle reanalysis statistical optimal

• Ligase detection reaction for the analysis of point mutations using free-solution conjugate electrophoresis in a polymer microfluidic device.

  PMID 19053073 · PMC3010182 · Electrophoresis · 2008 · 8 claims · 7 setups

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  LDR-FSCE (combining LDR with free-solution conjugate electrophoresis) enables single-base resolution separation of LDR products without a polymer sieving matrix

  genomic synthetic k-ras ldr-dt pcr solid-phase ligase

• Contribution of the C-terminal region within the catalytic core domain of HIV-1 integrase to yeast lethality, chromatin binding and viral replication.

  PMID 19014595 · PMC2615443 · Retrovirology · 2008 · 7 claims · 8 setups

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  IN mutants V165A, A179P and KR186,7AA in the C-terminal region of the catalytic core domain fail to induce the lethal phenotype in HP16 yeast

  saccharomyces hp16 293t cos-7 yeast immunoprecipitation chromatin

• Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.

  PMID 18948002 · PMC2592511 · Neuromuscular disorders : NMD · 2008 · 7 claims · 7 setups

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  The patient carries a homozygous Trp25X (TGG→TGA) mutation in TCAP causing premature termination of translation/transcription and complete telethonin deficiency.

  pelvis skeletal muscle genomic muscle histology electron

• Bone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation.

  PMID 18947387 · PMC2579299 · Molecular cancer · 2008 · 8 claims · 8 setups

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  A novel t(2;11)(q11.2;p15.1) translocation was identified as the sole cytogenetic abnormality in a childhood T-ALL case

  bone genomic da926692 g-banding fish vectorette

• Genome-wide association studies in neurological disorders.

  PMID 18940696 · PMC2824165 · The Lancet. Neurology · 2008 · 8 claims · 6 setups

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  GWAS can identify common genetic variability associated with a trait across the whole genome, avoiding the bias and low throughput of candidate-gene studies

  icelandic german north sclerosis genome-wide multistage

• Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases.

  PMID 18836848 · PMC4319114 · Journal of inherited metabolic disease · 2008 · 7 claims · 8 setups

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  Synergistic heterozygosity — cumulative heterozygous mutations at multiple loci in functionally related metabolic pathways — can cause physiologically relevant reduction of pathway flux and disease.

  models liver sucrose vlcad-deficient physiological blue sucrose