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).

• Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.

  PMID 18334953 · PMC2268897 · Molecular vision · 2008 · 8 claims · 6 setups

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  A G61C (P.G61C) missense mutation in CRYGD causes autosomal dominant congenital coralliform cataracts in this family

  four-generation genomic crygd wild-type genotyping direct denaturing

• MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.

  PMID 17480217 · PMC1868705 · BMC medical genetics · 2007 · 8 claims · 7 setups

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  The MRX87 disease locus maps to the Xp22-p21 interval, a known hot spot region for mental handicap

  peripheral genomic pcr leukocytes two-point direct pcr

• Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

  PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups

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  Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2

  genomic available leukocytes affected linkage pcr single

• Non-imprinted allele-specific DNA methylation on human autosomes.

  PMID 19958531 · PMC2812945 · Genome biology · 2009 · 8 claims · 7 setups

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  SNPs within CpG islands are associated with allele-specific DNA methylation differences between alleles.

  leukocytes leukocyte hek293 bisulfite methylation-sensitive cdna

• Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

  PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups

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  A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family

  family genomic clinical microsatellite direct

• Report on the Molecular Approaches to Osteoarthritis Symposium, Imperial College London, UK, 18-20 April 2004.

  PMID 15380034 · PMC546282 · Arthritis research & therapy · 2004 · 8 claims · 8 setups

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  OA cartilage and synovium show an 'IL-1 signature' of upregulated inflammatory cytokines/chemokines, with peripheral blood leukocytes possibly activated by trafficking through affected joints

  cartilage knee mesenchymal chondrocytes transcriptional clinical overexpression