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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Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements.
PMID 20026586 · PMC2847243 · Nucleic acids research · 2010 · 8 claims · 5 setups
Telomere fusion in human cells is characterized by extensive sub-telomeric deletion of at least one telomere, extending up to 5.6-6.1 kb
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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
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A biomedically enriched collection of 7000 human ORF clones.
PMID 18231609 · PMC2211400 · PloS one · 2008 · 8 claims · 4 setups
Produced and made available over 7000 fully sequence-verified plasmid ORF clones representing over 3400 unique human genes, in both closed (stop codon) and fusion (no stop codon) formats.
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Hypomethylation and expression of BEX2, IGSF4 and TIMP3 indicative of MLL translocations in acute myeloid leukemia.
PMID 19835597 · PMC2770485 · Molecular cancer · 2009 · 8 claims · 8 setups
MLL-mutant (MLL mu) AML cell lines show significantly lower TSG promoter methylation than MLL wild-type (MLL wt) AML cell lines
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Assaying chromosomal inversions by single-molecule haplotyping.
PMID 16721377 · PMC2690135 · Nature methods · 2006 · 8 claims · 4 setups
Haplotype Fusion PCR (HF-PCR) juxtaposes sequences flanking an inversion breakpoint on single DNA molecules via emulsion PCR, generating orientation-specific fusion products diagnostic of inversion genotype
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Characterization, expression profiles, intracellular distribution and association analysis of porcine PNAS-4 gene with production traits.
PMID 18588709 · PMC2464599 · BMC genetics · 2008 · 8 claims · 7 setups
Porcine PNAS-4 encodes a 194-amino-acid protein that localizes to the Golgi complex
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mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice.
PMID 19763141 · PMC2909846 · Journal of human genetics · 2009 · 8 claims · 8 setups
The G10398A cybrid shows slower proliferation and delayed cell cycle progression (G1 accumulation, decreased G2/M) compared to wild-type G10398 cybrid
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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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Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
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Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.
PMID 18949062 · PMC2571945 · Molecular vision · 2008 · 8 claims · 5 setups
Truncating (nonsense/frameshift) mutations in NHS cause Nance-Horan syndrome by prematurely terminating the protein
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Ethnic differences and functional analysis of MET mutations in lung cancer.
PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups
MET mutations identified in lung tumors are predominantly germline rather than somatic
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Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons.
PMID 15018647 · PMC365025 · BMC genomics · 2004 · 8 claims · 8 setups
Combined SSH subtractive cloning and array CGH is an efficient strategy to identify overexpressed genes located within DNA amplicons.
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Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups
Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy
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NovelFam3000--uncharacterized human protein domains conserved across model organisms.
PMID 16533400 · PMC1440326 · BMC genomics · 2006 · 8 claims · 7 setups
NovelFam3000 is an online data centre unifying bioinformatics resource links, news, comments, and user-submitted experimental data (including a Gene Characterization Index) for ~3000 uncharacterized Pfam-B/DUF domain families conserved across worm, fly, and human
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TccP2-mediated subversion of actin dynamics by EPEC 2 - a distinct evolutionary lineage of enteropathogenic Escherichia coli.
PMID 17526832 · PMC2884950 · Microbiology (Reading, England) · 2007 · 7 claims · 8 setups
tccP2 is present in 26 of 27 (96.2%) EPEC 2 lineage strains and absent from all 34 EPEC 1 strains tested
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Genomics meets nanoscience: probing genes and the cell nucleus at 10-9 meters.
PMID 11897022 · PMC139022 · Genome biology · 2002 · 8 claims · 8 setups
Trans-splicing generates cell-specific protocadherin mRNAs in human neurons
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Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.
PMID 18775783 · PMC2729512 · Molecular and cellular neurosciences · 2008 · 8 claims · 8 setups
Six 22q11 genes (Mrpl40, Prodh, Slc25a1, Txnrd2, T10, Zdhhc8) encode proteins that localize to mitochondria, including neuronal/synaptic mitochondria.
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Has reproduction
PID1 regulates insulin-dependent glucose uptake by controlling intracellular sorting of GLUT4-storage vesicles.
PMID 30904610 · PMC6624118 · Biochimica et biophysica acta. Molecular basis of disease · 2019 · 8 claims · 8 setups
PID1 serves as an insulin-regulated retention adaptor protein controlling co-translocation of LRP1 and GLUT4 to the adipocyte plasma membrane
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An integrative approach to reveal driver gene fusions from paired-end sequencing data in cancer.
PMID 19881495 · PMC3086882 · Nature biotechnology · 2009 · 8 claims · 8 setups
A 'concept signature' (ConSig) score algorithm ranks genes by association with molecular concepts characteristic of fusion or mutation cancer genes, nominating biologically important fusions from large candidate sets.
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Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts.
PMID 19835606 · PMC2784330 · Genome biology · 2009 · 7 claims · 2 setups
Hybrid selection of cDNA dramatically increases the specificity of sequencing reads mapping to targeted cancer-related transcripts.