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).
-
Full-text index only
CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation.
PMID 11556834 · PMC2375081 · British journal of cancer · 2001 · 7 claims · 6 setups
Germ line CDKN2A mutations were found in 5 of 15 (33.3%) Italian melanoma-prone families, including one novel mutation (P48T) and three known pathogenic mutations (R24P, G101W, N71S)
-
Full-text index only
Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.
PMID 12100744 · PMC116720 · Breast cancer research : BCR · 2002 · 8 claims · 4 setups
Germline BRCA1 and BRCA2 mutations are present in Iranian women with early-onset breast cancer, including four novel frameshift mutations
-
Full-text index only
A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation.
PMID 14521712 · PMC212228 · Molecular cancer · 2003 · 6 claims · 5 setups
Pro582Ser is a common HIF-1α ODD-domain polymorphism occurring at similar frequency in idiopathic erythrocytosis patients (0.109) and normal controls (0.073)
-
Full-text index only
Ankyrin-linked hereditary spherocytosis in an African-American kindred.
PMID 18704959 · PMC11304496 · American journal of hematology · 2008 · 6 claims · 7 setups
A novel heterozygous initiator methionine mutation (ATG→ATA, Met1Ile), termed ankyrin New Haven, was identified in exon 1 of the ankyrin-1 gene as the cause of HS in this kindred.
-
Full-text index only
Extreme conservation of noncoding DNA near HoxD complex of vertebrates.
PMID 15462684 · PMC524357 · BMC genomics · 2004 · 7 claims · 7 setups
Three blocks of extremely conserved non-coding DNA (CR1, CR2, CR3) exist within 7 kb upstream of the HoxD complex, 3' of Evx-2, conserved from fish to human.
-
Full-text index only
A SNP-centric database for the investigation of the human genome.
PMID 15046636 · PMC395999 · BMC bioinformatics · 2004 · 8 claims · 3 setups
SNPper is a web-based, integrated SNP database combining dbSNP, the Human Genome sequence (Goldenpath), LocusLink, GeneOntology, and SWISS-PROT data with querying, visualization, and export tools.
-
Full-text index only
Functional analysis of novel SNPs and mutations in human and mouse genomes.
PMID 19091009 · PMC2638150 · BMC bioinformatics · 2008 · 8 claims · 7 setups
FANS streamlines functional analysis of novel SNPs and mutations into a simplified, few-click, four-step procedure.
-
Full-text index only
Evolutionary genomics reveals lineage-specific gene loss and rapid evolution of a sperm-specific ion channel complex: CatSpers and CatSperbeta.
PMID 18974790 · PMC2572835 · PloS one · 2008 · 8 claims · 6 setups
The CatSper channel complex (four CatSpers plus CatSperβ) originated as early as primitive metazoans such as the Cnidarian Nematostella vectensis