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).

• Intergenic risk variant rs56258221 skews the fate of naive CD4(+) T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis.

  PMID 38901430 · PMC11293351 · Cell reports. Medicine · 2024 · 8 claims · 8 setups

  Has reproduction · 58

  rs56258221 (BACH2/MIR4464) associates with a distinct peripheral blood T cell immunophenotype in people with PSC

  peripheral liver facs-sorted cd4+ flow bulk cite-seq

• A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

  PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups

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  NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay

  leukocyte peripheral serum plasma gene enzyme chitotriosidase

• Early days: genomics and human responses to infection.

  PMID 16679048 · PMC7108404 · Current opinion in microbiology · 2006 · 8 claims · 8 setups

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  DNA microarray-based transcript profiling of primate/human responses to infection has begun to yield new insights into host-pathogen interactions but is limited by unresolved methodological challenges.

  peripheral liver gastric brain microarray

• 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

• FEM: mining biological meaning from cell level in single-cell RNA sequencing data.

  PMID 34909283 · PMC8641482 · PeerJ · 2021 · 7 claims · 5 setups

  Has reproduction · 75

  The FEM algorithm converts each cell's gene expression matrix (GEM) into a functional expression matrix by applying Fisher's exact test enrichment per cell and per gene set, then encoding adjusted p-values as information content.

  peripheral pancreas liver pbmc scrna-seq differential dimensionality

• A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

  PMID 15953877 · PMC2782211 · Journal of Korean medical science · 2005 · 7 claims · 8 setups

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  The patient is a compound heterozygote for two SLC37A4 mutations: c.1042_1043delCT (L348fs) and c.443C>T (A148V)

  liver genomic peripheral liver g6pase glucose-loading

• Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.

  PMID 19795005 · PMC2752790 · Journal of Korean medical science · 2009 · 7 claims · 6 setups

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  The patient has a homozygous D103N point mutation in the MC2R gene, with both parents heterozygous carriers

  peripheral infant genomic serum rapid pcr

• Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

  PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups

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  The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.

  genomic proband blood patients pcr long-range combined

• Predicting preferential DNA vector insertion sites: implications for functional genomics and gene therapy.

  PMID 18047689 · PMC2106846 · Genome biology · 2007 · 8 claims · 6 setups

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  Vector insertion site preferences differ substantially between viral vectors and transposons, affecting both oncogenic risk in gene therapy and utility for functional genomics

  hela liver gene peripheral retroviral transposon hydrodynamic

• Metabolic profiling during malaria reveals the role of the aryl hydrocarbon receptor in regulating kidney injury.

  PMID 33021470 · PMC7538157 · eLife · 2020 · 8 claims · 8 setups

  Has reproduction · 62

  Plasma AHR ligands derived from heme metabolism (biliverdin, bilirubin) and tryptophan/kynurenine pathway metabolites increase during acute Pc malaria in mice and acute cerebral malaria in humans

  c57bl pediatric littermate untargeted targeted bilirubin

• Two committees tackle toxicogenomics.

  PMID 12501852 · PMC1241123 · Environmental health perspectives · 2002 · 8 claims · 8 setups

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  NIEHS funded a $37 million, five-year Toxicogenomics Research Consortium (TRC) linking the NIEHS Microarray Center with five academic institutions (UNC, Duke, Fred Hutchinson/UW, MIT, OHSU) to coordinate gene-expression research on environmental health effects.

  strains nervous mice liver microarray gene toxicogenomic

• 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

• The impact of new research technologies on our understanding of environmental causes of disease: the concept of clinical vulnerability.

  PMID 19948053 · PMC2793242 · Environmental health : a global access science source · 2009 · 8 claims · 8 setups

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  GWAS-identified genetic variants confer only modest relative risks (1.15-1.5), comparable in magnitude to weak/contested environmental exposures

  polish cohort nonsmokers low genome-wide biomarker epidemiological