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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Finding the needle in the haystack: why high-throughput screening is good for your health.
PMID 12100740 · PMC138735 · Breast cancer research : BCR · 2002 · 8 claims · 8 setups
HTS is essential for finding lead compounds, especially for novel targets whose active-site structure is unknown
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Mutation of the p53 gene precedes aneuploid clonal divergence in colorectal carcinoma.
PMID 7841032 · PMC2033599 · British journal of cancer · 1995 · 7 claims · 5 setups
p53 mutation occurs as a single clonal event that precedes and may facilitate aneuploid clonal divergence in colorectal carcinoma
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PAX6 gene variations associated with aniridia in south India.
PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups
Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)
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Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families.
PMID 10755399 · PMC2374482 · British journal of cancer · 2000 · 8 claims · 3 setups
Only 25% (8/32) of the Spanish breast/ovarian cancer families carried a BRCA1 or BRCA2 mutation
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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups
21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.
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4-Methylcytosine DNA modification is critical for global epigenetic regulation and virulence in the human pathogen Leptospira interrogans.
PMID 33301041 · PMC7708080 · Nucleic acids research · 2020 · 7 claims · 8 setups
A 4mC orphan MTase (lomA) is present only in the pathogenic (P) clade of Leptospira and methylates CTAG motifs.
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p53 expression and its relationship to DNA alterations in bone and soft tissue sarcomas.
PMID 8260365 · PMC1968651 · British journal of cancer · 1993 · 8 claims · 6 setups
25.7% (29/113) of bone and soft tissue sarcomas show positive p53 immunostaining
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Structural insights into the inhibited states of the Mer receptor tyrosine kinase.
PMID 19028587 · PMC2686088 · Journal of structural biology · 2009 · 8 claims · 8 setups
Nucleotide-bound (ADP and ANP/AMP-PNP) Mer kinase domain adopts an autoinhibited DFG-Asp-in/αC-Glu-out conformation with an activation-loop residue inserted into the active site
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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups
Mutations in USH2A are responsible for most cases of USH2
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Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.
PMID 18615205 · PMC2443751 · Molecular vision · 2008 · 8 claims · 5 setups
The family's late-onset ectopia lentis and secondary glaucoma phenotype shows genetic linkage to the FBN1 locus on chromosome 15q21.1
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Prediction by graph theoretic measures of structural effects in proteins arising from non-synonymous single nucleotide polymorphisms.
PMID 18654622 · PMC2447880 · PLoS computational biology · 2008 · 8 claims · 5 setups
Bongo identifies mutations causing local and global structural effects with a remarkably low false positive rate
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A restricted spectrum of NRAS mutations causes Noonan syndrome.
PMID 19966803 · PMC3118669 · Nature genetics · 2010 · 8 claims · 6 setups
Germline NRAS mutations (T50I, G60E) cause a subset of Noonan syndrome cases via enhanced MAPK activation
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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