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).

• Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.

  PMID 41729082 · PMC12956005 · JCI insight · 2026 · 8 claims · 8 setups

  Has reproduction · 89

  TLR8 A518T is a gain-of-function variant that enhances NF-κB activation and increases secretion of proinflammatory cytokines upon stimulation compared with WT TLR8

  plasma pbmcs expressing tlr8 targeted plasma quantitative

• Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

  PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups

  Full-text index only

  16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis

  genomic gck fasting pediatric direct molecular biochemical

• Protein structure and function by the sea.

  PMID 11983051 · PMC139342 · Genome biology · 2002 · 8 claims · 8 setups

  Full-text index only

  High-throughput structural genomics (X-ray crystallography and NMR) can rapidly expand the number of solved protein structures far beyond what is currently in the Protein Data Bank.

  proteins membrane proteasome bacterial high-throughput electron x-ray

• Genomics Define Malignant Transformation in Myeloma Precursor Conditions.

  PMID 41061199 · PMC12614327 · Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2026 · 8 claims · 6 setups

  Has reproduction · 78

  Genomics can identify malignant transformation in MGUS and SMM, defining biologically distinct subsets termed genomic MM and genomic MGUS that are indistinguishable from or distinct from MM at the genomic level.

  cd138+ mgus bone whole-exome whole-genome cnv

• Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

  PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups

  Full-text index only

  Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy

  blood cos-1 bacteria mitochondria sequencing cell-based recombinant

• Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

  PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups

  Full-text index only

  GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.

  palestinian genomic probands lymphoblasts targeted sanger pcr

• Genetic and biochemical studies in Argentinean patients with variegate porphyria.

  PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups

  Full-text index only

  All 18 studied VP patients harbored PPOX gene mutations in heterozygous state

  peripheral blood relative urine pcr rt-pcr enzyme

• 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

  Full-text index only

  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