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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Comparative genomic analysis reveals a novel mitochondrial isoform of human rTS protein and unusual phylogenetic distribution of the rTS gene.
PMID 16162288 · PMC1261261 · BMC genomics · 2005 · 8 claims · 5 setups
A novel rTS protein isoform, rTSγ, exists with a 27-residue longer N-terminus generated from an alternative upstream start codon relative to rTSβ.
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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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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
PMID 16595074 · PMC3500179 · Human genomics · 2006 · 8 claims · 7 setups
50 novel α-Gal A mutations were identified in 49 of 66 unrelated families with classic Fabry disease.
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Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups
GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.
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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
PMID 18828908 · PMC2567295 · BMC medical genetics · 2008 · 8 claims · 6 setups
c.1333delC is a novel de novo frameshift mutation in TBX5 exon 9 predicted to produce an elongated 580-amino-acid protein (74 miscoding + 62 supernumerary C-terminal residues) instead of a truncated one
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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups
Mutations in GLE1, an mRNA export mediator, cause LCCS1
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A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.
PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups
The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls
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Mitotic checkpoint protein hsMAD2 as a marker predicting liver metastasis of human gastric cancers.
PMID 11572763 · PMC5926839 · Japanese journal of cancer research : Gann · 2001 · 8 claims · 4 setups
No mutations were found in the coding sequence of the hsMAD2 gene in 32 primary gastric cancers
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Molecular cloning, genomic characterization and over-expression of a novel gene, XRRA1, identified from human colorectal cancer cell HCT116Clone2_XRR and macaque testis.
PMID 12908878 · PMC194569 · BMC genomics · 2003 · 8 claims · 7 setups
XRRA1 is a novel gene down-regulated ~2-fold in XR-resistant HCT116 Clone2_XRR relative to HCT116 Clone10, identified via cDNA microarray
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Systems biology of gene regulation fulfills its promise.
PMID 16719937 · PMC1779525 · Genome biology · 2006 · 8 claims · 8 setups
Suz12, a Polycomb Group complex component, has DNA targets identifiable by ChIP-chip and can silence large genomic regions in a cell-type-specific manner.
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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients
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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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Genetic changes of Wnt pathway genes are common events in metaplastic carcinomas of the breast.
PMID 18593979 · PMC3060761 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 6 setups
Aberrant β-catenin protein expression (nuclear/cytoplasmic accumulation or reduced membrane staining) is present in nearly all metaplastic breast carcinomas, indicating Wnt pathway deregulation.
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Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
PMID 19753315 · PMC2742642 · Molecular vision · 2009 · 8 claims · 5 setups
Wild-type HA-tagged CLRN1 is correctly trafficked to the plasma membrane in transfected BHK-21 cells
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Neuroscience in the era of functional genomics and systems biology.
PMID 19829370 · PMC3645852 · Nature · 2009 · 8 claims · 7 setups
Omics/discovery-based approaches do not eschew hypotheses but elevate hypothesis testing to high-throughput hypothesis generation and prioritization.
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A ChIP-exo screen of 887 Protein Capture Reagents Program transcription factor antibodies in human cells.
PMID 34426512 · PMC8415381 · Genome research · 2021 · 8 claims · 8 setups
About 5% of tested PCRP antibodies showed high-confidence cognate-target enrichment in at least one assay and are strong candidates for further validation.
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The cell cycle and virus infection.
PMID 15576934 · PMC7120536 · Methods in molecular biology (Clifton, N.J.) · 2005 · 8 claims · 7 setups
Viruses interfere with the host cell cycle to increase efficiency of virus replication
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A new family of giardial cysteine-rich non-VSP protein genes and a novel cyst protein.
PMID 17183673 · PMC1762436 · PloS one · 2006 · 8 claims · 7 setups
HCNCp is a novel invariant (non-variant) cyst protein belonging to a new family of high-cysteine membrane proteins (HCMp) abundant in the Giardia genome
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Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56,419 completely sequenced and manually annotated full-length cDNAs.
PMID 16914452 · PMC1557807 · Nucleic acids research · 2006 · 8 claims · 8 setups
Analysis of 56,419 full-length cDNAs identified 6877 alternative splicing genes encoding 18,297 alternative splicing variants made of 37,670 exons.
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The secrets of a functional synapse--from a computational and experimental viewpoint.
PMID 16723009 · PMC1810317 · BMC bioinformatics · 2006 · 8 claims · 8 setups
Kinesin motor proteins move cargo along axonal microtubules to the synapse, with cargo specificity determined by adaptor/linker proteins rather than lipid recognition