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).

• SNAP predicts effect of mutations on protein function.

  PMID 18757876 · PMC2562009 · Bioinformatics (Oxford, England) · 2008 · 8 claims · 3 setups

  Full-text index only

  SNAP is a publicly available web-server implementation predicting functional effects (neutral/non-neutral) of single amino acid substitutions.

  mutant insulin neural alanine mutation

• Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.

  PMID 20003313 · PMC2797770 · Cardiovascular diabetology · 2009 · 7 claims · 6 setups

  Full-text index only

  The Val/Met255 mutation (G→A substitution at codon 255) in HNF4α is present at a considerable frequency among Iranian clinical MODY patients

  peripheral serum pcr-rflp sanger biochemical

• With the finished human genome in hand, what next?

  PMID 12844356 · PMC193627 · Genome biology · 2003 · 8 claims · 8 setups

  Full-text index only

  Gene Ontology (GO) provides a syntax/query framework for functional classification of genes, expanding beyond E. coli origins into anatomy, pathology, and phenotype data.

  domestic saccharomyces systemic schistosoma comparative functional genetic

• Mathematical models in mammalian cell biology.

  PMID 18638360 · PMC2530880 · Genome biology · 2008 · 8 claims · 8 setups

  Full-text index only

  A point mutation in the circadian Per2 gene causes familial advanced sleep phase syndrome (FASPS) via a phosphorylation defect that alters PER2 stability and subcellular localization.

  culture skin hela mammalian live-cell confocal phosphoprotein

• A novel germline mutation of PTEN associated with brain tumours of multiple lineages.

  PMID 12085208 · PMC2746590 · British journal of cancer · 2002 · 8 claims · 6 setups

  Full-text index only

  A novel heterozygous germline PTEN mutation (Arg234Gln, R234Q) was identified in a patient with glioma and prior meningioma

  peripheral tumour u87mg baf3 pcr microsatellite proliferation

• The promise of biomarkers in colorectal cancer detection.

  PMID 15322316 · PMC3839323 · Disease markers · 2004 · 8 claims · 8 setups

  Full-text index only

  A panel/combination of biomarkers is likely to provide better predictive value for early CRC detection than any single biomarker.

  stool specimens serum multi-target afb1-n7-guanine mutation

• Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).

  PMID 16412238 · PMC1368963 · BMC medical genetics · 2006 · 8 claims · 6 setups

  Full-text index only

  A novel PPARG nonsense mutation, Y355X, was identified in a mother and daughter with FPLD3-consistent phenotypes and was absent from unaffected relatives and 260 healthy controls

  subjects nih3t3 subject healthy sequencing luciferase western

• Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

  PMID 17728498 · PMC2693808 · Journal of Korean medical science · 2007 · 7 claims · 4 setups

  Full-text index only

  Two Korean children with PND carry heterozygous KCNJ11 mutations (K170R and V59M) affecting Kir6.2.

  peripheral case molecular continuous serum

• Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

  PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups

  Full-text index only

  Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes

  peripheral saccharomyces yeast ins-1e dhplc proton western

• X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

  PMID 19654509 · PMC2763399 · Clinical dysmorphology · 2009 · 7 claims · 5 setups

  Full-text index only

  A 21bp in-frame insertion causing a 7-alanine expansion in the SOX3 polyalanine tract causes X-linked isolated growth hormone deficiency (IGHD) without learning disability.

  affected family patients pedigree sanger pcr-based endocrine

• 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

• NK2R control of energy expenditure and feeding to treat metabolic diseases.

  PMID 39537932 · PMC11602716 · Nature · 2024 · 8 claims · 8 setups

  Has reproduction · 87

  NK2R activation is sufficient to suppress appetite centrally and increase energy expenditure peripherally

  european-ancestry brain nk2r greenlandic gwas transcriptome-wide receptor

• Alstrom syndrome (OMIM 203800): a case report and literature review.

  PMID 18154657 · PMC2266715 · Orphanet journal of rare diseases · 2007 · 8 claims · 8 setups

  Full-text index only

  The proband is a compound heterozygote for two novel ALMS1 mutations, V424I (exon 6) and H3882Y (exon 17), causative for Alstrom syndrome

  genomic healthy proband pcr pcr-rflp plasma