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 15

System / cell line: healthy ✕ Assay: amplified ✕ Clear

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.

PMID 18211709 · PMC2248204 · BMC neurology · 2008 · 6 claims · 4 setups

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Pathogenic mutations in PRKN and LRRK2, but not SNCA or PINK1, are found in a Portuguese cohort of early-onset/familial PD patients

genomic cohort bidirectional targeted gene
Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.

PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups

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HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals

genomic genotype 293t pcr-amplified pcr haplotype cell-cell
Competitive enzymatic reaction to control allele-specific extensions.

PMID 15767273 · PMC1065263 · Nucleic acids research · 2005 · 6 claims · 7 setups

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Protease-mediated allele-specific extension (PrASE) uses competition between polymerase activity and Proteinase K-mediated polymerase degradation to allow extension of perfectly matched primers while eliminating slower mismatched primer extension.

genomic immobilized four individuals multiplex protease-mediated effect
Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

PMID 18644145 · PMC2492855 · BMC medical genetics · 2008 · 8 claims · 6 setups

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Pathogenic REEP1 mutations were identified in 4.3% (7/162) of autosomal dominant 'pure' HSP cases

genomic pcr-amplified reep1 pcr dhplc direct
A common haplotype within the PON1 promoter region is associated with sporadic ALS.

PMID 18618303 · PMC2739087 · Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases · 2008 · 7 claims · 6 setups

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Two SNPs (rs987539 in PON2 intron 6 and rs2074351 upstream of PON1 exon 2) within the paraoxonase gene cluster are significantly associated with susceptibility to sporadic ALS

genomic case-control sporadic serum snp allelic sliding-window
HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.

PMID 15629059 · PMC5172246 · Genomics, proteomics & bioinformatics · 2003 · 7 claims · 5 setups

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HLA-A gene shows high polymorphism in the Northern Chinese Han population, with 74 gene types and 36 alleles detected in 161 individuals

genomic ihwg peripheral allele sequence-based pcr sbt
Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups

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Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R

genomic taiwanese dhplc pcr sanger
Relationship between cyclooxygenase 8473T>C polymorphism and the risk of lung cancer: a case-control study.

PMID 16542464 · PMC1468421 · BMC cancer · 2006 · 8 claims · 4 setups

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The COX-2 8473T>C genotype distribution did not differ significantly between overall lung cancer cases and controls.

peripheral selected lung pcr-based sequencing questionnaire-based
A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups

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A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.

genomic cornea corneas blood direct pcr laser
A novel mutation in the SH3BP2 gene causes cherubism: case report.

PMID 17147794 · PMC1764878 · BMC medical genetics · 2006 · 6 claims · 6 setups

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A novel A1517G base change in exon 9 of SH3BP2, causing a D419G amino acid substitution, is the disease-causing mutation in this cherubism family.

genomic proband patients jaw direct pcr computed
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

genomic pcr-amplified tsc healthy dhplc direct pcr
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.

PMID 11734061 · PMC60523 · BMC genetics · 2001 · 7 claims · 3 setups

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DHPLC can readily discriminate the two known mutational events (c.365G>A and c.365~366GC>AT) that both cause the R122H mutation

genomic pcr independently pcr denaturing direct
A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

PMID 16100463 · PMC2782167 · Journal of Korean medical science · 2005 · 7 claims · 4 setups

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A novel heterozygous DCX missense mutation, c.386C>T (S129L) in exon 3, is responsible for SBH in Patient 1

peripheral genomic pcr direct pcr rflp
HIT: a versatile proteomics platform for multianalyte phenotyping of cytokines, intracellular proteins and surface molecules.

PMID 18849997 · PMC3334282 · Nature medicine · 2008 · 8 claims · 8 setups

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HIT uses oligonucleotide-tagged (Fab- or mSA-conjugated) antibodies, T7 polymerase amplification, and DNA microarray hybridization to indirectly measure multiple analytes in a fluid-phase multiplex format

hsp70-coated hsp70 secreted jurkat fluid-phase multiplex hit
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

PMID 18400097 · PMC2322962 · BMC medical genetics · 2008 · 7 claims · 5 setups

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A novel heterozygous/homozygous KCNQ1 mutation, T322M (C965T, exon 7), was identified in a Chinese family with both RWS and JLNS

genomic family direct pcr restriction

Experiments

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.

Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.

Competitive enzymatic reaction to control allele-specific extensions.

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

A common haplotype within the PON1 promoter region is associated with sporadic ALS.

HLA-A gene polymorphism defined by high-resolution sequence-based typing in 161 Northern Chinese Han people.

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

Relationship between cyclooxygenase 8473T>C polymorphism and the risk of lung cancer: a case-control study.

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

A novel mutation in the SH3BP2 gene causes cherubism: case report.

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.

A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.

HIT: a versatile proteomics platform for multianalyte phenotyping of cytokines, intracellular proteins and surface molecules.

Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.