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).

• Expression in human prostate of drug- and carcinogen-metabolizing enzymes: association with prostate cancer risk.

  PMID 9823980 · PMC2063181 · British journal of cancer · 1998 · 7 claims · 5 setups

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  CYP2D6, CYP3A, and an N-acetyltransferase enzyme activity are functionally expressed in human prostate tissue

  peripheral prostate genomic allele-specific enzymatic determination

• A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

  PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups

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  The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.

  microdissected resected non-tumor liver pcr-rflp immunohistochemistry western

• A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.

  PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups

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  Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)

  genomic hek293 hepg2 microsomes pcr site-directed luciferase

• Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.

  PMID 10427478 · PMC3851081 · Disease markers · 1998 · 8 claims · 6 setups

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  E237G shows no significant association with atopy or asthma in the Swiss population (3.7% in patients vs 2.6% in controls)

  genomic extracted cdna patients pcr rt-pcr restriction

• Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.

  PMID 15799788 · PMC1079843 · BMC medical genetics · 2005 · 8 claims · 7 setups

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  Systematic screening of TPH1 exons and promoter region in Taiwanese Han identified five sequence variants: A-1067G, G-347T, T3804A, C27224T, A27237G.

  taiwanese bpd bess arms multiplex

• Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.

  PMID 16595074 · PMC3500179 · Human genomics · 2006 · 8 claims · 7 setups

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  50 novel α-Gal A mutations were identified in 49 of 66 unrelated families with classic Fabry disease.

  genomic α-gal cos-7 transcripts pcr southern microsatellite

• A search for structurally similar cellular internal ribosome entry sites.

  PMID 17591613 · PMC1950536 · Nucleic acids research · 2007 · 8 claims · 7 setups

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  Cellular IRES are not defined by an overall conserved structure (unlike viral IRES) but instead depend on short RNA motifs and shared trans-acting factors (ITAFs)

  transcribed hek 293t enzymatic chemical structural

• Asthma investigators begin to reap the fruits of genomics.

  PMID 14611649 · PMC329104 · Genome biology · 2003 · 7 claims · 8 setups

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  Microarray profiling of animal models of allergic asthma can identify novel differentially expressed candidate genes involved in inflammation and airway remodeling.

  monkey models lung inbred cdna oligonucleotide northern

• Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations.

  PMID 17640344 · PMC1939985 · BMC medical genetics · 2007 · 8 claims · 5 setups

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  Significant differences in 3'APOB-VNTR allele and genotype frequencies exist between Hei Yi Zhuang and Han populations

  population serum genomic epidemiological enzymatic immunoturbidimetric

• 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

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  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

• A chromosomally integrated bacteriophage in invasive meningococci.

  PMID 15967821 · PMC2212043 · The Journal of experimental medicine · 2005 · 8 claims · 7 setups

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  An 8-kb genetic island (NMA1792-NMA1799) is specifically associated with hyperinvasive meningococcal clonal complexes

  meningitidis culture czech patients comparative pcr nuclease

• GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.

  PMID 16919418 · PMC2842930 · Genomics · 2006 · 8 claims · 8 setups

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  Human FXN YAC transgenes containing GAA repeat expansions (YG22, YG8) rescue the embryonic lethality of homozygous Fxn knockout mice

  yg22 tissues lysates sciatic breeding semiquantitative western

• Pharmacogenomics of gemcitabine: can genetic studies lead to tailor-made therapy?

  PMID 17595663 · PMC2360307 · British journal of cancer · 2007 · 8 claims · 14 setups

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  A SNP in the cytidine deaminase (CDA) gene (208G>A, haplotype *3) decreases gemcitabine clearance, increases Cmax/AUC, and increases neutropenia risk when gemcitabine is combined with platinum drugs or 5-FU

  japanese paraffin-embedded tumour recombinant prospective immunohistochemistry pcr

• Mutation detection using ENDO1: application to disease diagnostics in humans and TILLING and Eco-TILLING in plants.

  PMID 18433472 · PMC2386800 · BMC molecular biology · 2008 · 7 claims · 6 setups

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  Co-agroinfiltration of ENDO1 and p19 constructs into N. benthamiana leaves gives high-level transient expression of active, mismatch-specific ENDO1 via a simple purification protocol

  benthamiana test genomic hiv-1 transient heteroduplex mutation

• Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene.

  PMID 18622261 · PMC2680356 · Pharmacogenetics and genomics · 2008 · 7 claims · 7 setups

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  UGT2B7 haplotype 4 is associated with increased enzyme activity (M3G and M6G formation)

  liver caucasian ugt2b7 gene snp enzymatic

• Angiotensin I-converting enzyme mutation (Trp1197Stop) causes a dramatic increase in blood ACE.

  PMID 20011602 · PMC2788243 · PloS one · 2009 · 8 claims · 8 setups

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  A novel heterozygous Trp1197Stop (W1197X) mutation in the ACE gene causes a 13-fold increase in blood ACE activity in an African-American family

  plasma genomic cho heparinized ace plate conformational

• A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

  PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.

  family hek293t lymphoid pcr-amplified fluorometric site-directed western

• Expansion of the SOS regulon of Vibrio cholerae through extensive transcriptome analysis and experimental validation.

  PMID 29783948 · PMC5963079 · BMC genomics · 2018 · 8 claims · 8 setups

  Has reproduction · 85

  Whole transcriptome sequencing with extensive TSS mapping identified 3078 transcription start sites and 629 ncRNAs in V. cholerae N16961

  cholerae lexa identified directional end rt-pcr

• Usefulness of cancer-testis antigens as biomarkers for the diagnosis and treatment of hepatocellular carcinoma.

  PMID 17244360 · PMC1797003 · Journal of translational medicine · 2007 · 8 claims · 8 setups

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  HCC is a highly heterogeneous, non-linear disease driven by complex, multi-stage genetic and environmental alterations

  hcc serum sera peripheral serum expression enzyme

• Endurance exercise as a countermeasure for aging.

  PMID 18716044 · PMC2570389 · Diabetes · 2008 · 8 claims · 8 setups

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  Reduced insulin sensitivity with age is likely related to adiposity and physical inactivity rather than being an inevitable consequence of aging.

  vastus mitochondria mitochondrial extracted euglycemic-hyperinsulinemic mitochondrial citrate