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).

• Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

  PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups

  Full-text index only

  A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination

  cattle bovine coli affinity-purified snp reverse cdna

• Human genetics branches out in Barcelona.

  PMID 18710599 · PMC2575509 · Genome biology · 2008 · 8 claims · 8 setups

  Full-text index only

  A meta-analysis of three GWAS scans (DIAGRAM) identifies new type 2 diabetes susceptibility loci (JAZF1, CDC123/CAMK1D, ADAMTS9, THADA) with modest individual effect

  patients families lymphoblastoid genome genome-wide gwas genetic

• Genetic variation in PARL influences mitochondrial content.

  PMID 19862556 · PMC2829432 · Human genetics · 2010 · 7 claims · 5 setups

  Full-text index only

  PARL is a key regulator of mitochondrial integrity and function and plays a role in cellular apoptosis

  genomic nuclear parl pcr snp real-time

• Mutation patterns of mtDNA: empirical inferences for the coding region.

  PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups

  Full-text index only

  Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.

  extended-family same direct electropherogram molecular

• Physiology engages with functional genomics - at last.

  PMID 16086845 · PMC1273626 · Genome biology · 2005 · 8 claims · 8 setups

  Full-text index only

  Large-scale QTL phenotyping in rat strains reveals that most hypertension-related traits are sexually dimorphic

  wild-type caenorhabditis kidney pcr qtl enu copas

• Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.

  PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups

  Full-text index only

  HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals

  genomic genotype 293t pcr-amplified pcr haplotype cell-cell

• Expoldb: expression linked polymorphism database with inbuilt tools for analysis of expression and simple repeats.

  PMID 17038195 · PMC1618849 · BMC genomics · 2006 · 8 claims · 6 setups

  Full-text index only

  EXPOLDB is a novel database integrating human gene expression variability data (including monozygotic twin comparisons) with (TG/CA)n repeat polymorphism information

  blood genomic genes housekeeping microarray repeat est-based

• Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.

  PMID 17010193 · PMC1599749 · BMC cancer · 2006 · 8 claims · 4 setups

  Full-text index only

  No germline deleterious mutations were identified in the ATR coding region among 54 non-BRCA1/2 high-risk French Canadian breast cancer cases.

  genomic ebv-transformed normal direct linkage rt-pcr

• A restricted spectrum of NRAS mutations causes Noonan syndrome.

  PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups

  Full-text index only

  Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation

  cohort cos-7 recombinant nras mutation western ras

• Severe COVID-19 Shares a Common Neutrophil Activation Signature with Other Acute Inflammatory States.

  PMID 35269470 · PMC8909161 · Cells · 2022 · 7 claims · 7 setups

  Has reproduction · 88

  COVID-19 and HLH share immunological pathways, yielding 237 common up-regulated DEGs dominated by cytokine/chemokine signaling and neutrophil-mediated immune responses.

  peripheral leukocytes plasma degs bulk single-cell plasma

• Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

  PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups

  Full-text index only

  TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.

  genomic healthy irish case mutation direct taqman

• New approaches to the analysis of palindromic sequences from the human genome: evolution and polymorphism of an intronic site at the NF1 locus.

  PMID 16340004 · PMC1310899 · Nucleic acids research · 2005 · 7 claims · 8 setups

  Full-text index only

  Long pure palindromes (>~200 bp) cannot be stably cloned in E.coli due to cruciform-driven instability, and no E.coli mutant fully overcomes this cloning block.

  individuals e.coli cerevisiae yeast pcr plasmid phi-29

• Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.

  PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups

  Full-text index only

  SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+

  blood family unrelated subjects snp family-based linkage

• Mutations in NYX of individuals with high myopia, but without night blindness.

  PMID 17392683 · PMC2642916 · Molecular vision · 2007 · 7 claims · 5 setups

  Full-text index only

  Two novel NYX missense mutations (Cys48Trp and Arg191Gln) were found in unrelated males with high myopia but no night blindness.

  unrelated individuals high model direct sequencing electroretinogram

• Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.

  PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups

  Full-text index only

  Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts

  european african individuals nondiabetic snp variant direct

• Comprehensive characterization of the antibody responses to SARS-CoV-2 Spike protein finds additional vaccine-induced epitopes beyond those for mild infection.

  PMID 35072628 · PMC8887901 · eLife · 2022 · 8 claims · 3 setups

  Has reproduction · 57

  mRNA vaccination induces antibody binding to additional Spike epitopes (NTD and CTD in S1) beyond those seen after mild infection (FP and SH-H in S2)

  serum combined phage-dms principal

• The use of urine proteomic and metabonomic patterns for the diagnosis of interstitial cystitis and bacterial cystitis.

  PMID 15258332 · PMC3850593 · Disease markers · 2003 · 6 claims · 2 setups

  Full-text index only

  Urine MS and 1H-NMR spectral patterns can be used to discriminate IC-affected, BC-affected, and unaffected individuals with approximately 84% success rate.

  urine surface-binding high-resolution

• A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

  PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups

  Full-text index only

  A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls

  family k4425 embryonic scn9a-n641y linkage copy deletion

• In vivo antiviral host transcriptional response to SARS-CoV-2 by viral load, sex, and age.

  PMID 32898168 · PMC7478592 · PLoS biology · 2020 · 8 claims · 6 setups

  Has reproduction · 89

  SARS-CoV-2 infection induces a strong interferon-mediated antiviral response in the nasopharynx, up-regulating antiviral factors (OAS1-3, IFIT1-3, MX2, RSAD2, HERC5) and Th1 chemokines CXCL9/10/11, while down-regulating ribosomal protein transcripts.

  nasopharyngeal airway patient-matched swab shotgun bulk rt-pcr

• Increased constraints on MC4R during primate and human evolution.

  PMID 19011902 · PMC9947067 · Human genetics · 2009 · 6 claims · 7 setups

  Full-text index only

  There is a significant paucity of genetic diversity at MC4R in humans but not in chimpanzees.

  hgdp-ceph germans central additional dhplc direct coding