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
Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.
PMID 16934001 · PMC1550284 · PLoS genetics · 2006 · 7 claims · 6 setups
The E320Q, Q463H, and L706S STAT1 alleles are intrinsically deleterious for both IFNG/GAF-mediated and IFNA/ISGF3-mediated immunity when tested in STAT1-deficient transfected cells
-
Full-text index only
Comparative mapping of expressed sequence tags containing microsatellites in rainbow trout (Oncorhynchus mykiss).
PMID 15836796 · PMC1090573 · BMC genomics · 2005 · 8 claims · 7 setups
89 polymorphic microsatellite markers were developed from rainbow trout EST-derived cDNA clones
-
Full-text index only
Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
PMID 17267408 · PMC1865061 · Nucleic acids research · 2007 · 6 claims · 6 setups
Measuring allelic imbalance (AI) of two SNP alleles within the same sample is an effective approach for identifying cis-acting rSNPs, since each allele serves as an internal control for the other.
-
Full-text index only
IMGT, the international ImMunoGeneTics information system.
PMID 15608269 · PMC540019 · Nucleic acids research · 2005 · 8 claims · 6 setups
IMGT is a high-quality integrated knowledge resource for immunoglobulins (IG), T cell receptors (TR), MHC, and related proteins of the immune system (RPI) across vertebrate species
-
Full-text index only
Effects of two common polymorphisms in the 3' untranslated regions of estrogen receptor beta on mRNA stability and translatability.
PMID 19754929 · PMC2759954 · BMC genetics · 2009 · 8 claims · 4 setups
Breast tumor heterozygotes show a significant difference in relative mRNA levels between the two alleles of rs4986938
-
Full-text index only
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups
PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).
-
Full-text index only
Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.
PMID 15500681 · PMC529269 · BMC biotechnology · 2004 · 8 claims · 7 setups
Both microarray minisequencing formats accurately quantify SNP allele ratios, with R2 > 0.95 for the majority of regression lines
-
Full-text index only
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups
TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes
-
Full-text index only
Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.
PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups
The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer
-
Full-text index only
Investigations on a clinically and functionally unusual and novel germline p53 mutation.
PMID 12085209 · PMC2746598 · British journal of cancer · 2002 · 8 claims · 7 setups
A novel germline 7 base pair insertion in exon 5 of p53 (causing frameshift from codon 161 with a stop at codon 182) was identified in a patient with osteosarcoma at age 22 and choroid plexus papilloma at age 29.
-
Full-text index only
Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.
PMID 11870543 · PMC2375272 · British journal of cancer · 2002 · 8 claims · 5 setups
DFFA is localized within the 1p36.2-3 smallest region of overlap (SRO) of deletions defined in Scandinavian neuroblastoma tumours, distal to marker D1S244
-
Full-text index only
Comparative analysis of cancer genes in the human and chimpanzee genomes.
PMID 16438707 · PMC1382208 · BMC genomics · 2006 · 7 claims · 6 setups
All 333 examined human cancer genes have intact, highly conserved orthologs in the chimpanzee genome (99.38% protein identity).
-
Full-text index only
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.
PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups
A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP
-
Full-text index only
Connecting synthetic chemistry decisions to cell and genome biology using small-molecule phenotypic profiling.
PMID 19825513 · PMC2787914 · Current opinion in chemical biology · 2009 · 8 claims · 8 setups
Multidimensional phenotypic profiling leverages information content from multiple parallel or multiplexed measurements of compound action on cells, unlike hierarchical screening which filters to few 'interesting' compounds.