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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Identification of RNA-Binding Protein Targets with HyperTRIBE in Saccharomyces cerevisiae.
PMID 37240377 · PMC10218906 · International journal of molecular sciences · 2023 · 7 claims · 8 setups
HyperTRIBE was successfully established in S. cerevisiae by fusing an RBP to the hyper-active catalytic domain of human ADAR2 (E488Q), marking target transcripts with A-to-G editing events detectable by high-throughput sequencing
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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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Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups
A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination
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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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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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Has reproduction · 90
The tumour suppressor L(3)mbt inhibits neuroepithelial proliferation and acts on insulator elements.
PMID 21857667 · PMC3173870 · Nature cell biology · 2011 · 8 claims · 8 setups
Brain tumors in l(3)mbt mutants originate from overproliferation of neuroepithelial cells of the optic lobes, not from defects in asymmetric cell division.
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A combined approach exploring gene function based on worm-human orthology.
PMID 15877817 · PMC1112593 · BMC genomics · 2005 · 8 claims · 6 setups
Strict phylogenetic criteria (concordant Neighbor Joining and Maximum Parsimony tree topology) can select single most-likely human orthologs for C. elegans genes despite the large phylogenetic distance between worm and human sequences.
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Tyrosine phosphorylation inhibits PKM2 to promote the Warburg effect and tumor growth.
PMID 19920251 · PMC2812789 · Science signaling · 2009 · 7 claims · 8 setups
Oncogenic FGFR1 directly phosphorylates PKM2 at tyrosine 105 (Y105), inhibiting its enzymatic activity
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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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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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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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Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.
PMID 8879195 · PMC2192830 · The Journal of experimental medicine · 1996 · 6 claims · 8 setups
The patient is a compound heterozygote for a p67-phox gene mutation: an in-frame deletion of lysine 58 on one allele and an 11-13 kb genomic deletion on the other allele.
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The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.
PMID 17438525 · PMC2669504 · Molecular vision · 2007 · 8 claims · 8 setups
NR2E3 LBD fused to a heterologous Gal4 DBD mediates dose-dependent transcriptional repression on Gal4-responsive reporters.
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Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
PMID 18992264 · PMC2682550 · Mutation research · 2009 · 8 claims · 8 setups
A combined functional assay, bioinformatics prediction, and structural modeling approach can classify BRCA1 variants of uncertain significance
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Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
PMID 18036263 · PMC2246181 · Breast cancer research : BCR · 2007 · 8 claims · 8 setups
Revised multifactorial likelihood analysis incorporating ER, CK5/6, and CK14 tumor immunohistochemistry improves classification of BRCA1 unclassified variants