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).

Publications 1.3k Datasets 392.5k Experiments 53

System / cell line: type ✕ Assay: point ✕ Clear

Determination of point mutational spectra of benzo[a]pyrene-diol epoxide in human cells.

PMID 1486852 · PMC1519600 · Environmental health perspectives · 1992 · 5 claims · 4 setups

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A new protocol combining en masse 6-thioguanine-resistant mutant selection, high-fidelity PCR amplification, and DGGE separation can determine point mutational spectra in human cells with high precision and reproducibility

tk6 184-bp reconstruction point melting
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

PMID 17033964 · PMC1698567 · American journal of human genetics · 2006 · 7 claims · 4 setups

Has reproduction · 75

Heterozygous de novo point mutations in HCCS (missense p.R217C and nonsense p.R197X) cause X-linked dominant MLS in females with normal karyotypes

patients family saccharomyces cho-k1 mutation deletion yeast
Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

PMID 17697348 · PMC2042502 · BMC genetics · 2007 · 8 claims · 5 setups

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CTCE eliminates the need for laboratory optimization of separation conditions for each exonic target sequence.

pcr-amplified target exonic cycling ctce
An efficient method for the prediction of deleterious multiple-point mutations in the secondary structure of RNAs using suboptimal folding solutions.

PMID 18445289 · PMC2386494 · BMC bioinformatics · 2008 · 8 claims · 6 setups

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Using RNAsubopt suboptimal solutions computed once for the wild-type sequence, specific multiple-point mutations likely to cause conformational rearrangement can be selected without brute-force enumeration.

example hepatitis minimum suboptimal multiple-point
K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.

PMID 9514049 · PMC2149957 · British journal of cancer · 1998 · 6 claims · 4 setups

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K-ras codon 12 mutation is present in all carcinoma lesions examined with no intratumour heterogeneity, consistent with an early carcinogenic event

resected pcr-rflp-positive lung pcr-rflp direct selective
A colorimetric method for point mutation detection using high-fidelity DNA ligase.

PMID 16257979 · PMC1275593 · Nucleic acids research · 2005 · 8 claims · 8 setups

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High-fidelity Tth DNA ligase combined with allele-specific ligation-based gold nanoparticle assembly enables colorimetric single-base discrimination without precise temperature control

p3-modified nanoparticle synthetic ligated uv-vis colorimetric melting
Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups

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JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.

bone remission sanger pyrosequencing paired
Mutation patterns of mtDNA: empirical inferences for the coding region.

PMID 18518963 · PMC2438339 · BMC evolutionary biology · 2008 · 5 claims · 3 setups

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Heteroplasmy was detected in 6.5% (3/46) of Azorean families analyzed, all caused by new point mutations with no insertions/deletions.

extended-family same direct electropherogram molecular
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

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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.

recombinant cyp2d6 computational resonance uv-vis sds-page
Detection of point mutations associated with antibiotic resistance in Pseudomonas aeruginosa.

PMID 19656662 · PMC2744841 · International journal of antimicrobial agents · 2009 · 8 claims · 6 setups

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Pyrosequencing™ can substitute for traditional sequencing methods, providing rapid (<1 h) and reliable detection of antibiotic resistance mutations in P. aeruginosa

clinical extracted pcr fluoroquinolone-resistant kirby–bauer multiplex sanger
Alternative splicing and bioinformatic analysis of human U12-type introns.

PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups

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The long, evolutionarily conserved polypyrimidine (Py) tract of the JNK2 U2-U12 hybrid intron provides the signal for default inclusion of the downstream alternative exon 6b in non-neuronal cells

hela hek293 genome jnk2 rt-pcr minigene bioinformatic
The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.

PMID 19050890 · PMC2690858 · Annals of hematology · 2009 · 7 claims · 7 setups

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HBG2:g.-109G>T is a novel promoter mutation causing a distinct ('Hellenic type') nd-HPFH

peripheral genomic nuclear mel cation reverse-phase denaturing
Alkyltransferase-mediated toxicity of 1,3-butadiene diepoxide.

PMID 18712882 · PMC2614079 · Chemical research in toxicology · 2008 · 8 claims · 6 setups

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hAGT expression increases mutations and cytotoxicity following BDO exposure, and hAGT-DNA cross-links form in the presence of BDO

recombinant wt-hagt [35s]-labelled trg8 sds-page time-course forward
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

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Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

genomic frozen skeletal korean direct rt-pcr-based pcr-restriction
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups

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RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene

peripheral patient-parent genomic crebbp karyotyping bac microsatellite
Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.

PMID 16707008 · PMC1483898 · BMC cancer · 2006 · 6 claims · 4 setups

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Somatic VHL gene alterations (LOH and mutation) may contribute to pathogenesis of MEN2A-associated MTC, similar to their role in MEN2 pheochromocytoma

microdissected same genomic frozen microsatellite loss vhl
Extraction of human kinase mutations from literature, databases and genotyping studies.

PMID 19758464 · PMC2745582 · BMC bioinformatics · 2009 · 7 claims · 6 setups

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A literature mining pipeline combining MutationFinder, false-positive filtering, and SVM-based classification can extract and disambiguate single-point mutation mentions from abstracts and full text

pubmed large labeled swissprot literature supervised comparative
Human genomic diversity, viral genomics and proteomics, as exemplified by human papillomaviruses and H5N1 influenza viruses.

PMID 19706363 · PMC3525194 · Human genomics · 2009 · 8 claims · 6 setups

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A novel HPV type (HPV-85) was identified and phylogenetically characterized, showing closest relatedness to HPV-70/39/18/45/59 within the A7 genital HPV group

novel hpv gene h5n1 whole-genome intrinsic statistical
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

Has reproduction · 68

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.

schizosaccharomyces pombe rna-seq lasso lariat-specific
A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.

PMID 19958498 · PMC2788387 · BMC genomics · 2009 · 8 claims · 4 setups

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Comparative homology modeling of wild-type and mutant α-mannosidase across human, cow, cat and guinea pig reveals a significant correlation between genotype severity and phenotype severity in α-mannosidosis

lysosomal full-length pro-peptide bovine homology sequence weblogo

Experiments

Determination of point mutational spectra of benzo[a]pyrene-diol epoxide in human cells.

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

An efficient method for the prediction of deleterious multiple-point mutations in the secondary structure of RNAs using suboptimal folding solutions.

K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.

A colorimetric method for point mutation detection using high-fidelity DNA ligase.

Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

Mutation patterns of mtDNA: empirical inferences for the coding region.

Altered spin state equilibrium in the T309V mutant of cytochrome P450 2D6: a spectroscopic and computational study.

Detection of point mutations associated with antibiotic resistance in Pseudomonas aeruginosa.

Alternative splicing and bioinformatic analysis of human U12-type introns.

The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.

Alkyltransferase-mediated toxicity of 1,3-butadiene diepoxide.

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma.

Extraction of human kinase mutations from literature, databases and genotyping studies.

Human genomic diversity, viral genomics and proteomics, as exemplified by human papillomaviruses and H5N1 influenza viruses.

LaSSO, a strategy for genome-wide mapping of intronic lariats and branch points using RNA-seq.

A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.