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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Two modes of microsatellite instability in human cancer: differential connection of defective DNA mismatch repair to dinucleotide repeat instability.
PMID 15778432 · PMC1067522 · Nucleic acids research · 2005 · 8 claims · 8 setups
Dinucleotide microsatellite alterations in human cancer fall into two distinct modes: Type A (length changes ≤6 bp) and Type B (changes ≥8 bp)
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Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.
PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups
A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.
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p53 tumor suppressor gene mutations in fibroblast-like synoviocytes from erosion synovium and non-erosion synovium in rheumatoid arthritis.
PMID 15642132 · PMC1064878 · Arthritis research & therapy · 2005 · 8 claims · 4 setups
p53 mutation frequency and type do not differ significantly between erosion and non-erosion FLS
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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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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
PMID 18825676 · PMC2743946 · Annals of neurology · 2008 · 8 claims · 6 setups
All eight new patients had heterozygous glycine substitution mutations toward the N-terminal end of the collagen VI triple helix
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Characterization of heterotypic interaction effects in vitro to deconvolute global gene expression profiles in cancer.
PMID 17868458 · PMC2375029 · Genome biology · 2007 · 8 claims · 8 setups
Co-culture of certain breast cancer cell lines with stromal fibroblasts induces interferon-response genes (IRGs) in a subset of cancer cells
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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups
Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains
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Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.
PMID 17480121 · PMC1865561 · PLoS genetics · 2007 · 7 claims · 8 setups
KLF14 is a novel imprinted gene showing monoallelic maternal expression in embryonic and extra-embryonic tissues of both human and mouse
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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups
A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.
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Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
PMID 19765279 · PMC2760583 · BMC genomics · 2009 · 8 claims · 5 setups
Global microarray profiling reveals 421 genes differentially expressed in DBA patient fibroblasts compared to healthy controls
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Identification of the REST regulon reveals extensive transposable element-mediated binding site duplication.
PMID 16899447 · PMC1557810 · Nucleic acids research · 2006 · 8 claims · 8 setups
The RE1 PSSM identifies functional RE1 binding sites with greater sensitivity and selectivity than the previously used RE1 consensus sequence
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Intrinsic genetic characteristics determine tumor-modifying capacity of fibroblasts: matrix metalloproteinase-3 5A/5A genotype enhances breast cancer cell invasion.
PMID 17922906 · PMC2242664 · Breast cancer research : BCR · 2007 · 8 claims · 8 setups
Tumor-derived fibroblasts promote higher levels of breast cancer cell invasion than normal fibroblasts
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Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.
PMID 18424447 · PMC2465800 · Human molecular genetics · 2008 · 6 claims · 8 setups
Nonsense-mediated mRNA decay (NMD) degrades mutant SOD1 mRNA carrying a PTC in non-terminal exons (1-4), explaining why ALS-associated PTC mutations are found only in exon 5
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Functional proteomics of failed filtering blebs.
PMID 20019882 · PMC2793902 · Molecular vision · 2009 · 8 claims · 6 setups
Eight proteins are differentially expressed between failed filtering bleb Tenon's tissue and control Tenon's capsule, identified by 2D-electrophoresis proteomics and MALDI-TOF MS
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Novel insights into adipogenesis from omics data.
PMID 19689276 · PMC2765082 · Current medicinal chemistry · 2009 · 8 claims · 8 setups
Pparg and Cebpa are the two master transcriptional regulators governing adipogenesis
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Are gene expression microarray analyses reliable? A review of studies of retinoic acid responsive genes.
PMID 15626329 · PMC5171945 · Genomics, proteomics & bioinformatics · 2003 · 6 claims · 8 setups
Published microarray studies aiming to identify RA-responsive genes show substantial, often contradictory, differences in results across research groups.
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Integrative transcriptome sequencing identifies trans-splicing events with important roles in human embryonic stem cell pluripotency.
PMID 24131564 · PMC3875859 · Genome research · 2014 · 8 claims · 8 setups
TSscan, a computational pipeline integrating long- and short-read transcriptome sequencing from multiple hESC lines, can detect trans-splicing while minimizing false positives from experimental artifacts and genetic rearrangements.
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Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
PMID 18637129 · PMC2605190 · Experimental dermatology · 2009 · 8 claims · 5 setups
Strict, rigorous sun protection starting at age 2 resulted in minimal skin disease (only mild lip freckling, no skin cancer) in XP2GO despite an XP diagnosis
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Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.
PMID 16420694 · PMC1382255 · BMC bioinformatics · 2006 · 8 claims · 8 setups
SNPscan is a web-accessible tool that displays SNP copy number, genotype call, and LOH p-value data together in a single plot per sample