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).
-
Full-text index only
Breast cancer proteomics reveals correlation between estrogen receptor status and differential phosphorylation of PGRMC1.
PMID 18922159 · PMC2614521 · Breast cancer research : BCR · 2008 · 8 claims · 5 setups
PGRMC1 protein spots are differentially abundant between ER-negative and ER-positive breast tumors, with two of three spots more abundant in ER-negative tumors
-
Full-text index only
The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups
The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)
-
Full-text index only
Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
PMID 16111488 · PMC1208866 · BMC cancer · 2005 · 8 claims · 4 setups
15 of 89 nsSNPs (16.9%) studied were predicted to abolish or create phosphorylation sites in 14 of 32 proteins (44.0%)
-
Has reproduction · 68
LaSSO, a strategy for genome-wide mapping of intronic lariats and branch points using RNA-seq.
PMID 24709818 · PMC4079972 · Genome research · 2014 · 8 claims · 8 setups
LaSSO (Lariat Sequence Site Origin) identifies intronic lariat reads and pinpoints branch points genome-wide from RNA-seq data by considering every intronic base as a potential branch point and including all possible exon-skipping lariats.
-
Full-text index only
Detection of rare mutant K-ras DNA in a single-tube reaction using peptide nucleic acid as both PCR clamp and sensor probe.
PMID 16432256 · PMC1345699 · Nucleic acids research · 2006 · 8 claims · 5 setups
A 17mer PNA spanning K-ras codons 12/13 can serve as both PCR clamp and sensor probe in a single-tube reaction, differentiating all 12 possible point mutations from wild-type by melting temperature shift
-
Full-text index only
Switching base preferences of mismatch cleavage in endonuclease V: an improved method for scanning point mutations.
PMID 17130153 · PMC1702505 · Nucleic acids research · 2007 · 8 claims · 4 setups
A single Y80A alanine substitution switches Tma endo V from purine-preferring to essentially C-specific mismatch cleavage, including the previously refractory C/C mismatch.
-
Full-text index only
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
PMID 18302728 · PMC2291454 · BMC medical genetics · 2008 · 8 claims · 8 setups
Functional assays of TSC1–TSC2 complex activity can distinguish pathogenic TSC2 mutations from rare polymorphisms when multiple variants segregate in one family
-
Full-text index only
Involvement of HTLV-I Tax and CREB in aneuploidy: a bioinformatics approach.
PMID 16822311 · PMC1553470 · Retrovirology · 2006 · 8 claims · 6 setups
CTLL cells stably expressing wild-type Tax (CTLL/WT) show higher aneuploidy than a CREB-transactivation-deficient Tax clone (CTLL/703)
-
Full-text index only
Altered spin state equilibrium in the T309V mutant of cytochrome P450 2D6: a spectroscopic and computational study.
PMID 17318599 · PMC1915625 · Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2007 · 7 claims · 7 setups
The T309V mutation shifts the CYP2D6 heme spin equilibrium toward the six-coordinate low-spin (6cLS) state, decreasing the five-coordinate high-spin (5cHS) fraction relative to wild type.
-
Full-text index only
Cancer biomarker AKR1B10 and carbonyl metabolism.
PMID 19028477 · PMC6193474 · Chemico-biological interactions · 2009 · 8 claims · 6 setups
AKR1B10 reduces the anticancer drug daunorubicin to daunorubicinol, decreasing its chemotherapeutic effectiveness
-
Full-text index only
Bacteriophage Mu integration in yeast and mammalian genomes.
PMID 18953026 · PMC2602771 · Nucleic acids research · 2008 · 8 claims · 8 setups
In vitro-assembled Mu transpososomes, delivered by electroporation, efficiently integrate marker genes into yeast, mouse ES, human HeLa, and human ES cell genomes
-
Full-text index only
A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family.
PMID 18432314 · PMC2329669 · Molecular vision · 2008 · 6 claims · 5 setups
A novel homozygous splice-site mutation, c.1495+2_1495+3insT, in the donor splice-site of TULP1 intron 14 underlies autosomal recessive early-onset RP in family TB13.
-
Has reproduction · 85
The cotranslational cycle of the ribosome-bound Hsp70 homolog Ssb.
PMID 41545346 · PMC12847954 · Nature communications · 2026 · 8 claims · 7 setups
Rpl25/uL23 is the primary ribosomal attachment site of Ssb, contacted via the Ssb-αD RKKR-motif (R596, K597, K603, R604) binding the Rpl25 EDD-motif (E77, D131, D134) and C-terminus.
-
Full-text index only
Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.
PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups
No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers
-
Full-text index only
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.
PMID 18334959 · PMC2268850 · Molecular vision · 2008 · 7 claims · 5 setups
A homozygous c.955G>A mutation at the last base of exon 6 of LCA5 disrupts the normal splice donor site.
-
Full-text index only
What have we learned from the congenital myasthenic syndromes.
PMID 19688192 · PMC3050586 · Journal of molecular neuroscience : MN · 2010 · 8 claims · 8 setups
CMS have been traced to mutations in at least 11 disease genes encoding proteins at the neuromuscular junction
-
Full-text index only
Sequence variation in G-protein-coupled receptors: analysis of single nucleotide polymorphisms.
PMID 15784611 · PMC1069129 · Nucleic acids research · 2005 · 7 claims · 8 setups
Position-specific phylogenetic features describing evolutionary conservation at a site (e.g. SIFT score, normalized site entropy, residue frequency change) are the best individual discriminators of disease-causing versus neutral GPCR mutations.
-
Full-text index only
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
PMID 16995940 · PMC1590028 · BMC genomics · 2006 · 8 claims · 6 setups
In silico ESE-prediction algorithms (ESEfinder, RescueESE, PESX) do not reliably predict actual in vivo splicing behavior of missense mutations
-
Full-text index only
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
PMID 17576681 · PMC1934990 · Nucleic acids research · 2007 · 8 claims · 4 setups
Cryptic 5'ss are best predicted by computational algorithms that accommodate nucleotide dependencies (e.g., Markov model, maximum entropy, maximum dependence decomposition) rather than by weight-matrix models
-
Full-text index only
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