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).
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Analysis of TSG101 tumour susceptibility gene transcripts in cervical and endometrial cancers.
PMID 10027311 · PMC2362423 · British journal of cancer · 1999 · 6 claims · 5 setups
Abnormal (aberrant) TSG101 transcripts are common in both cancerous and non-cancerous cervical/endometrial tissue as well as in normal peripheral mononuclear cells
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Alternative splicing and bioinformatic analysis of human U12-type introns.
PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups
The long, evolutionarily conserved polypyrimidine (Py) tract of the JNK2 U2-U12 hybrid intron provides the signal for default inclusion of the downstream alternative exon 6b in non-neuronal cells
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Tissue compartment analysis for biomarker discovery by gene expression profiling.
PMID 19901995 · PMC2771357 · PloS one · 2009 · 8 claims · 5 setups
TCA method quantifies the fractional volume of constitutive structures in a heterogeneous tissue sample by comparing marker mRNA levels in the whole sample to those in pure isolated structures
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Identification of transcription start sites and preferential expression of select CB2 transcripts in mouse and human B lymphocytes.
PMID 19757078 · PMC2843092 · Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2009 · 7 claims · 8 setups
Human B cells express one CB2 transcript while mouse B cells express three CB2 transcripts
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Alternative splicing of human peroxisome proliferator-activated receptor delta (PPAR delta): effects on translation efficiency and trans-activation ability.
PMID 17705821 · PMC2045109 · BMC molecular biology · 2007 · 8 claims · 8 setups
Multiple alternatively spliced 5'-UTR isoforms of human PPARdelta mRNA differ in translation efficiency
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Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.
PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups
BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant
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Discovering multiple transcripts of human hepatocytes using massively parallel signature sequencing (MPSS).
PMID 17601345 · PMC1929076 · BMC genomics · 2007 · 8 claims · 8 setups
MPSS detected 10,279 UniGene clusters, representing 7,475 known genes, in human hepatocytes
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Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26.
PMID 18302774 · PMC2266716 · BMC medical genetics · 2008 · 8 claims · 4 setups
The SNF2L gene spans 77 kb and is encoded by 25 exons that undergo alternative splicing to generate multiple distinct transcripts.
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The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer.
PMID 12381271 · PMC134458 · BMC genetics · 2002 · 7 claims · 8 setups
UNC93A maps within the minimal region of allele loss on 6q27 between D6S264 and D6S149, centromeric to D6S149
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Genome annotation of a 1.5 Mb region of human chromosome 6q23 encompassing a quantitative trait locus for fetal hemoglobin expression in adults.
PMID 15169551 · PMC441375 · BMC genomics · 2004 · 8 claims · 8 setups
A very large, previously uncharacterized gene, AHI1, containing WD40 and SH3 domains was discovered in the candidate interval
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Chromosome-wide identification of novel imprinted genes using microarrays and uniparental disomies.
PMID 16855283 · PMC1524921 · Nucleic acids research · 2006 · 8 claims · 5 setups
Four novel brain-specific paternally expressed transcripts (BB077283, BM117114, AK080843, AV328498) were identified and validated on proximal Chr 7.
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Unexpected novel relational links uncovered by extensive developmental profiling of nuclear receptor expression.
PMID 17997606 · PMC2065881 · PLoS genetics · 2007 · 8 claims · 5 setups
NR genes are predominantly expressed during organogenesis rather than early embryogenesis
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A novel GJA8 mutation causing a recessive triangular cataract.
PMID 18483562 · PMC2375854 · Molecular vision · 2008 · 8 claims · 6 setups
A homozygous single base-pair insertion (c.776insG) in GJA8 causes a recessive triangular nuclear cataract in two affected siblings.
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A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.
PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups
The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.
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Somatic and germline mutation in GRIM-19, a dual function gene involved in mitochondrial metabolism and cell death, is linked to mitochondrion-rich (Hurthle cell) tumours of the thyroid.
PMID 15841082 · PMC2361763 · British journal of cancer · 2005 · 8 claims · 5 setups
Somatic missense GRIM-19 mutations occur in a subset of sporadic Hürthle cell carcinomas but not in non-Hürthle cell thyroid carcinomas or blood donors
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Mice have a transcribed L-threonine aldolase/GLY1 gene, but the human GLY1 gene is a non-processed pseudogene.
PMID 15757516 · PMC555945 · BMC genomics · 2005 · 8 claims · 8 setups
Mouse has a transcribed, 7-exon L-threonine aldolase (GLY1) gene on chromosome 11 encoding a 400-residue protein homologous to bacterial threonine aldolase
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Identification of common genetic variation that modulates alternative splicing.
PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups
Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes
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An integrated genomic analysis of human glioblastoma multiforme.
PMID 18772396 · PMC2820389 · Science (New York, N.Y.) · 2008 · 8 claims · 7 setups
IDH1 is recurrently mutated at its active site (R132) in 12% of GBM patients, a previously unrecognized alteration in GBM.
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Functional epigenomics approach to identify methylated candidate tumour suppressor genes in renal cell carcinoma.
PMID 18195710 · PMC2361461 · British journal of cancer · 2008 · 8 claims · 4 setups
HAI-2/SPINT2 was previously identified as a novel epigenetically inactivated candidate RCC tumour suppressor gene
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Identification of a novel spliced variant of the SYT gene expressed in normal tissues and in synovial sarcoma.
PMID 11308259 · PMC2363857 · British journal of cancer · 2001 · 8 claims · 8 setups
Two forms of SYT mRNA, N-SYT and a novel form I-SYT, are co-expressed in normal human tissues and in synovial sarcomas