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).

• Association of GSK3B with Alzheimer disease and frontotemporal dementia.

  PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups

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  The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort

  genomic case-control family-based sib-pair pcr allele-specific fluorescence-polarization

• 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

• Association of polymorphisms in cyclooxygenase (COX)-2 with coronary and carotid calcium in the Diabetes Heart Study.

  PMID 18768181 · PMC2699582 · Atherosclerosis · 2009 · 8 claims · 6 setups

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  COX-2 promoter SNP rs689466 is associated with lower coronary calcified plaque (CorCP)

  whole-blood-derived subjects dhs unrelated snp coronary carotid

• Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.

  PMID 18625075 · PMC2478679 · BMC medical genetics · 2008 · 7 claims · 5 setups

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  A synonymous coding SNP (rs2099489) in CHRNG is associated with higher systolic blood pressure in both the Old Order Amish (AFDS) and the Framingham Heart Study

  amish non-first-degree-relative afds framingham variance direct snp

• Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.

  PMID 18614783 · PMC2518320 · The New England journal of medicine · 2008 · 7 claims · 5 setups

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  A heterozygous frameshift mutation in NPPA (encoding atrial natriuretic peptide, ANP) causes familial atrial fibrillation

  family plasma atria genome-wide fine exon

• Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.

  PMID 18270997 · PMC2909109 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups

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  The G/A and A/A genotypes of G472A (Val158Met) are point-wise significantly associated with opiate addiction in Hispanic women but not men (P=0.049)

  genomic opioid-dependent subjects direct taqman statistical

• Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.

  PMID 19844255 · PMC2824775 · European journal of human genetics : EJHG · 2010 · 7 claims · 7 setups

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  A locus on chromosome 16q23-24 affects HDL-C levels in two independent French-Canadian family studies (QUE and SLSJ)

  que slsj candidate skin genome-wide sanger tagging

• Escape from autologous neutralizing antibodies in acute/early subtype C HIV-1 infection requires multiple pathways.

  PMID 19763269 · PMC2741593 · PLoS pathogens · 2009 · 8 claims · 7 setups

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  Viral escape from autologous Nab occurred repeatedly (cyclically) throughout the first two years of infection in two subtype C-infected subjects despite high-titer Nab responses.

  hiv-1 longitudinal 0-month single pseudovirus single site-directed

• Genomic studies of mood disorders -- the brain as a muscle?

  PMID 15833130 · PMC1088952 · Genome biology · 2005 · 7 claims · 5 setups

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  FGF family members and receptors (notably FGF1, FGF2, FGFR2, FGFR3) are down-regulated in postmortem prefrontal cortex of subjects with major depressive disorder but not in bipolar or control subjects.

  postmortem brain rodent hippocampus affymetrix quantification gene

• Gene expression study on peripheral blood identifies progranulin mutations.

  PMID 18551524 · PMC2773201 · Annals of neurology · 2008 · 7 claims · 3 setups

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  PGRN is highly expressed in peripheral blood (97th percentile of all array genes)

  peripheral blood-derived microarray direct real-time

• Unlocking the microbial studies through computational approaches: how far have we reached?

  PMID 36920617 · PMC10016191 · Environmental science and pollution research international · 2023 · 8 claims · 8 setups

  Has reproduction

  Metagenomics enables culture-independent study of microbial communities directly from their natural environments, bypassing the need for clonal isolation.

  clinical bacteriophage vaginal hbv ngs random whole-genome

• Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

  PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

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  Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients

  genomic unaffected pcr targeted restriction

• Method for determination of (-102C>T) single nucleotide polymorphism in the human manganese superoxide dismutase promoter.

  PMID 15598343 · PMC544190 · BMC genetics · 2004 · 6 claims · 4 setups

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  A novel TaqMan allelic discrimination assay can reliably genotype the MnSOD -102C>T SNP from diverse DNA sources including blood, buccal swabs, frozen tissue, and paraffin blocks.

  genomic paraffin-embedded taqman pcr-restriction automated

• MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.

  PMID 15528791 · PMC3839337 · Disease markers · 2004 · 8 claims · 5 setups

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  MSI (or immunohistochemistry) testing applied to a pre-selected patient with a family history or early-onset colorectal cancer can distinguish HNPCC from unknown non-HNPCC colorectal cancer syndromes.

  population-based swedish colorectal hnpcc clinical histopathological microsatellite

• CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity.

  PMID 15507145 · PMC526769 · BMC medical genetics · 2004 · 8 claims · 7 setups

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  PCR amplification and sequencing of CLC-2 revealed 1 SNP in the promoter, 4 SNPs in intron 1, and none in exon 20

  nasal genomic ib3-1 western pcr fisher's

• Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes.

  PMID 16336637 · PMC1325051 · BMC medical genetics · 2005 · 7 claims · 5 setups

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  GLUT10 (SLC2A10) is a facilitative glucose transporter gene mapped within the T2DM-linked chromosome 20q12-13.1 region

  caucasian same subjects xenopus snp linkage haplotype

• A novel mutation in the SH3BP2 gene causes cherubism: case report.

  PMID 17147794 · PMC1764878 · BMC medical genetics · 2006 · 6 claims · 6 setups

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  A novel A1517G base change in exon 9 of SH3BP2, causing a D419G amino acid substitution, is the disease-causing mutation in this cherubism family.

  genomic proband patients jaw direct pcr computed

• Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

  PMID 16597330 · PMC1456953 · BMC medical genetics · 2006 · 8 claims · 5 setups

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  Three novel RP1 truncating mutations (Gln686Ter, Lys705fsX712, Lys722fsX737) cause adRP

  genomic adrp denaturing direct restriction

• MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

  PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups

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  Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype

  blood a1555g lymphoblastoid nuclear pcr-rflp direct rt-pcr

• Direct inference of SNP heterozygosity rates and resolution of LOH detection.

  PMID 18052545 · PMC2098867 · PLoS computational biology · 2007 · 6 claims · 7 setups

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  A large proportion of SNPs in dbSNP have high-variance HET rate estimates, limiting their reliability for LOH study design.

  dbsnp theoretical simulated hapmap snp probability sequential