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).

• A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

  PMID 17392686 · PMC2642918 · Molecular vision · 2007 · 8 claims · 5 setups

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  A novel COL1A1 nonsense mutation (Q644X, C2464T in exon 36) causes osteogenesis imperfecta type I in this Chinese family

  patients family genomic clinical microsatellite two-point

• Genotype-phenotype associations: modulation by diet and obesity.

  PMID 19037211 · PMC2771769 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 7 setups

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  Obesity modulates the association between APOE genotype and fasting insulin/glucose levels in men, with obese APOE4 carriers showing higher insulin and glucose than other obese genotype groups.

  framingham spanish caucasian population apoe edn1 lpl

• Development of animal models to test the fundamental basis of gene-environment interactions.

  PMID 19037209 · PMC2703424 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 8 setups

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  Selective breeding for low and high intrinsic aerobic treadmill running capacity produced divergent rat lines (LCR and HCR) that contrast in propensity for complex disease

  nih-derived lcr carotid treadmill body maximal

• The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

  PMID 18852351 · PMC2629407 · Archives of neurology · 2008 · 8 claims · 8 setups

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  GBA mutations are associated with a spectrum of parkinsonian phenotypes ranging from Parkinson disease to Lewy body dementia

  patients sequencing southern targeted

• Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.

  PMID 20031542 · PMC3097376 · Circulation. Cardiovascular genetics · 2008 · 7 claims · 8 setups

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  Rare Mendelian mutations (e.g., in sarcomere genes, ion channels, FBN1, LMNA) cause specific rare cardiovascular conditions (hypertrophic/dilated cardiomyopathy, long-QT syndrome, thoracic aortic aneurysm, progeria) but explain little of common CVD risk.

  community-based subjects dallas mice exon community-based gene

• Net positive charge of HIV-1 CRF01_AE V3 sequence regulates viral sensitivity to humoral immunity.

  PMID 18787705 · PMC2527523 · PloS one · 2008 · 8 claims · 5 setups

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  Reduction in V3's net positive charge makes V3 less variable due to limited positive selection

  hiv-1 recombinant plasma gp120 sequence single-round v3-peptide-based

• Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

  PMID 18776955 · PMC2530518 · Molecular vision · 2008 · 7 claims · 4 setups

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  Two novel MYOC mutations, Pro13Leu (38C→T) and Gln337Stop (1009C del), are likely responsible for POAG pathogenesis in this pedigree

  genomic family myoc pcr-rflp sequencing clinical

• Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

  PMID 18615205 · PMC2443751 · Molecular vision · 2008 · 8 claims · 5 setups

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  The family's late-onset ectopia lentis and secondary glaucoma phenotype shows genetic linkage to the FBN1 locus on chromosome 15q21.1

  family genomic pcr-amplified two-point direct single

• A proteomics grade electron transfer dissociation-enabled hybrid linear ion trap-orbitrap mass spectrometer.

  PMID 18613715 · PMC2601597 · Journal of proteome research · 2008 · 8 claims · 5 setups

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  A NCI source coupled via an added octopole and the c-trap to a QLT-orbitrap enables fast, efficient ETD reagent anion injection (4-8 ms)

  saccharomyces histone glioblastoma fluoranthene lc-ms etd anion

• Stability analysis of mixtures of mutagenetic trees.

  PMID 18366778 · PMC2335279 · BMC bioinformatics · 2008 · 7 claims · 5 setups

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  Mutagenetic trees mixture models capture multiple alternative pathways of ordered accumulation of genetic events (e.g., HIV resistance mutations, cancer chromosomal aberrations).

  simulated hiv-1 hiv timed simulation genotypic mutagenetic

• Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.

  PMID 18334962 · PMC2268858 · Molecular vision · 2008 · 8 claims · 4 setups

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  Two MYOC sequence variants were identified in Japanese POAG patients: a novel non-synonymous variant p.Gln297His and a previously reported variant p.Ala363Thr.

  genomic myoc poag pcr amino clinical

• Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

  PMID 20057908 · PMC2802296 · Molecular vision · 2009 · 8 claims · 4 setups

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  Mutations in CYP1B1 are a major cause of PCG in the studied patient cohort

  genomic cyp1b1 pcg pcr missense clinical

• 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

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

  genomic family complete pcr clinical

• Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

  PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups

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  Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair

  patients eyes genomic ophthalmological a-mode electroretinogram

• Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.

  PMID 19715579 · PMC2741446 · BMC medical genetics · 2009 · 8 claims · 6 setups

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  Three loci (2q24, 11q23.1-25, 13q14.11-21.33) were identified by both the microsatellite and SNP genome-wide scans

  talana volunteers same ogliastra genome-wide clinical genotype

• Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

  PMID 19668597 · PMC2722712 · Molecular vision · 2009 · 7 claims · 4 setups

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  A heterozygous MYOC mutation c.1109C>T (P370L) in exon 3 cosegregates with disease, present in all 6 affected members and absent in asymptomatic members.

  genomic patients pcr clinical genomic

• QUANT: a long-term multi-city commercial air sensor dataset for performance evaluation.

  PMID 39168987 · PMC11339295 · Scientific data · 2024 · 7 claims · 7 setups

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  The QUANT dataset is the most extensive open-access evaluation of commercial air quality sensor systems on a global scale to date

  main wider maqs low-cost reference-grade meteorological

• Nitric oxide and redox regulation in the liver: part II. Redox biology in pathologic hepatocytes and implications for intervention.

  PMID 20400112 · PMC2907433 · The Journal of surgical research · 2011 · 8 claims · 8 setups

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  ROS/RNS generated during hepatic ischemia/reperfusion cause cellular damage via mitochondrial dysfunction, ATP depletion, ion disturbances, and membrane/lysosomal disruption

  inos enos enos-overexpressing orthotopic genetic transgenic clinical

• A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.

  PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups

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  A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family

  family peripheral patients microsatellite pcr clinical

• Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.

  PMID 18631405 · PMC2496902 · BMC medical genetics · 2008 · 7 claims · 2 setups

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  The Flt-1 d(TG)n repeat polymorphism is not associated with the development of preeclampsia in Korean pregnant women

  genomic same pcr clinical