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 18

System / cell line: clinical ✕ Assay: laboratory ✕ Clear

Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.

PMID 20003313 · PMC2797770 · Cardiovascular diabetology · 2009 · 7 claims · 6 setups

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The Val/Met255 mutation (G→A substitution at codon 255) in HNF4α is present at a considerable frequency among Iranian clinical MODY patients

peripheral serum pcr-rflp sanger biochemical
Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups

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The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.

genomic proband blood patients pcr long-range combined
Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.

PMID 18797263 · PMC4867177 · Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology · 2008 · 8 claims · 8 setups

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A patient with the PS-1 G206A mutation developed prominent extrapyramidal signs (EPS) shortly after starting the atypical neuroleptic risperidone, which resolved completely after the drug was discontinued.

cerebrospinal genomic brain blood elisa genetic apoe
Serum diagnosis of diffuse large B-cell lymphomas and further identification of response to therapy using SELDI-TOF-MS and tree analysis patterning.

PMID 18163913 · PMC2242801 · BMC cancer · 2007 · 8 claims · 8 setups

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SELDI-TOF-MS serum proteomic patterns analyzed by decision tree classification (Biomarker Pattern Software) can discriminate DLBCL patients from healthy controls with high sensitivity and specificity.

serum seldi dlbcl pooled seldi-tof-ms proteinchip decision
A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.

PMID 18804929 · PMC2702532 · Brain & development · 2009 · 6 claims · 8 setups

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A novel homozygous POMT2 mutation (c.604T>G, p.F202V) causes mild congenital muscular dystrophy with normal brain MRI

skeletal genomic cos serum immunohistochemistry immunoblotting laminin
ksgA mutations confer resistance to kasugamycin in Neisseria gonorrhoeae.

PMID 19097863 · PMC2723803 · International journal of antimicrobial agents · 2009 · 8 claims · 6 setups

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Spontaneous KSG-resistant N. gonorrhoeae mutants arise exclusively through mutations in ksgA, not rpsI

clinical gonorrhoeae coli mic spontaneous pcr
Genetic microheterogeneity and phenotypic variation of Helicobacter pylori arginase in clinical isolates.

PMID 17408487 · PMC1853099 · BMC microbiology · 2007 · 8 claims · 8 setups

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Arginase activity varies more than 100-fold among H. pylori clinical isolates and laboratory-adapted strains

minimally-passaged pylori coli arginase urease heterologous
Versatile and open software for comparing large genomes.

PMID 14759262 · PMC395750 · Genome biology · 2004 · 8 claims · 8 setups

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MUMmer 3.0 efficiently handles comparisons of large eukaryotic genomes at varying evolutionary distances

escherichia chromosome drosophila anopheles suffix-tree whole-genome protein-level
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

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The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)

parental rfc hela blood genomic [3h]5-methyltetrahydrofolate northern
Isolated eyelid closure myotonia in two families with sodium channel myotonia.

PMID 19876661 · PMC2854355 · Neurogenetics · 2010 · 6 claims · 5 setups

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The L250P mutation in SCN4A is associated with a strictly isolated eyelid closure myotonia phenotype

patients blood index standardized needle direct
Sequence variation of PfEMP1-DBLalpha in association with rosette formation in Plasmodium falciparum isolates causing severe and uncomplicated malaria.

PMID 19650937 · PMC3224928 · Malaria journal · 2009 · 8 claims · 5 setups

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Sequence group 1 (mainly from uncomplicated malaria) is significantly different in distribution from sequence group 3 (mainly from severe malaria)

falciparum falciparum-infected pcr-amplified non-identical static rosette rt-pcr
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
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).

PMID 16887033 · PMC1559599 · BMC medical genetics · 2006 · 6 claims · 5 setups

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A multiplexed suspension bead array (Luminex) assay was developed to genotype 8 Ashkenazi-prevalent disease alleles including GBA c.1448T>C

genomic de-identified multiplex sanger clinical
Genomic diversity among drug sensitive and multidrug resistant isolates of Mycobacterium tuberculosis with identical DNA fingerprints.

PMID 19823582 · PMC2756628 · PloS one · 2009 · 8 claims · 8 setups

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M. tuberculosis isolates with identical DNA fingerprints can harbour substantial genomic diversity at the whole-genome level

tuberculosis whole-genome is6110 spoligotyping
Helicobacter Pylori's plasticity zones are novel transposable elements.

PMID 19727398 · PMC2731543 · PloS one · 2009 · 8 claims · 8 setups

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Plasticity zones are a novel class of transposable elements (named TnPZs), flanked by direct repeats of 5'AAGAATG and inserted at multiple discrete chromosomal sites

pylori shimaa model mammalian pcr-based genome pcr
Sequencing of 16S rRNA gene: a rapid tool for identification of Bacillus anthracis.

PMID 12396926 · PMC2730316 · Emerging infectious diseases · 2002 · 7 claims · 4 setups

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All 86 B. anthracis isolates tested share an identical 16S rRNA gene sequence, designated 16S type 6

bacillus clinical additional 16s nested comparative
The incentive salience of alcohol: translating the effects of genetic variant in CNR1.

PMID 18606956 · PMC2856651 · Archives of general psychiatry · 2008 · 7 claims · 6 setups

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The C allele of rs2023239 is associated with greater CB1 receptor binding in the prefrontal cortex

postmortem buccal heavy moderate-to-heavy receptor snp functional
CEBS--Chemical Effects in Biological Systems: a public data repository integrating study design and toxicity data with microarray and proteomics data.

PMID 17962311 · PMC2238989 · Nucleic acids research · 2008 · 8 claims · 5 setups

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CEBS is a public repository that integrates study design, timeline, clinical chemistry and histopathology data with microarray and proteomics data

subcellular laboratory cebs microarray gel clinical

Experiments

Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.

Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.

Serum diagnosis of diffuse large B-cell lymphomas and further identification of response to therapy using SELDI-TOF-MS and tree analysis patterning.

A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.

ksgA mutations confer resistance to kasugamycin in Neisseria gonorrhoeae.

Genetic microheterogeneity and phenotypic variation of Helicobacter pylori arginase in clinical isolates.

Versatile and open software for comparing large genomes.

The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

Isolated eyelid closure myotonia in two families with sodium channel myotonia.

Sequence variation of PfEMP1-DBLalpha in association with rosette formation in Plasmodium falciparum isolates causing severe and uncomplicated malaria.

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

Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).

Genomic diversity among drug sensitive and multidrug resistant isolates of Mycobacterium tuberculosis with identical DNA fingerprints.

Helicobacter Pylori's plasticity zones are novel transposable elements.

Sequencing of 16S rRNA gene: a rapid tool for identification of Bacillus anthracis.

The incentive salience of alcohol: translating the effects of genetic variant in CNR1.

CEBS--Chemical Effects in Biological Systems: a public data repository integrating study design and toxicity data with microarray and proteomics data.