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 881

System / cell line: blood ✕ Clear

DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia.

PMID 19102774 · PMC2630979 · BMC medical genetics · 2008 · 8 claims · 6 setups

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Variation in SYN III distal CpG island methylation is not related to schizophrenia in the population sample or in a monozygotic twin pair discordant for schizophrenia

brain blood non-human semi-quantitative sodium bisulfite
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

PMID 19093009 · PMC2603250 · Molecular vision · 2008 · 8 claims · 6 setups

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OCT detects foveal and lamellar macular retinoschisis more frequently than funduscopy alone

xlrs genomic optical full-field multifocal
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

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A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

at-risk eyes blood bbs7 clinical ophthalmologic genetic
Association of the SerCys DISC1 polymorphism with human hippocampal formation gray matter and function during memory encoding.

PMID 19046394 · PMC2865560 · The European journal of neuroscience · 2008 · 8 claims · 5 setups

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Individuals homozygous for the DISC1 Ser allele show greater HF (parahippocampal) gray matter volume than Cys allele carriers

healthy extracted voxel-based task psychophysiological
Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.

PMID 18997096 · PMC4836613 · Investigative ophthalmology & visual science · 2009 · 7 claims · 8 setups

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High T8993C mutant load (>77%) is associated with severe neurologic and/or retinal abnormalities, while low mutant load (42-54%) causes no detectable abnormalities.

retina blood visual adaptive real-time genetic
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

PMID 18978954 · PMC2576480 · Molecular vision · 2008 · 8 claims · 6 setups

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A C>A transversion in exon 2 of CERKL (c.316C>A) causes a missense change p.R106S in the nuclear localization signal sequence (KLKRR) of the protein.

patients genomic family cerkl ophthalmic homozygosity multipoint
Phenotypic screening, transcriptional profiling, and comparative genomic analysis of an invasive and non-invasive strain of Candida albicans.

PMID 18950481 · PMC2579918 · BMC microbiology · 2008 · 8 claims · 8 setups

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Strain SC5314 is invasive and virulent whereas strain ATCC10231 is non-invasive and strongly attenuated in virulence

albicans hep-2 rhe blood phenotypic growth adhesion
Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms.

PMID 18948608 · PMC2629798 · Stroke · 2009 · 8 claims · 4 setups

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Genomewide linkage analysis in 26 multiplex IA families with AA-affected members identified LOD peaks on chromosome 11 (LOD=3.0) and chromosome 6 (LOD=2.3) using a broad IA/AA-combined phenotype

multiplex individuals fia subjects genomewide snp medical
Identification and recovery of minor HIV-1 variants using the heteroduplex tracking assay and biotinylated probes.

PMID 18948297 · PMC2602764 · Nucleic acids research · 2008 · 6 claims · 8 setups

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Incorporating a biotin tag into the HTA probe enables purification of labeled heteroduplexes and direct sequencing of the separated query strand, allowing recovery of minor variant sequences

hiv-1 biotin-hta-purified original recovered heteroduplex rt-pcr sanger
Association of GSK3B with Alzheimer disease and frontotemporal dementia.

PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups

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The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort

genomic case-control family-based sib-pair pcr allele-specific fluorescence-polarization
Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.

PMID 20031542 · PMC3097376 · Circulation. Cardiovascular genetics · 2008 · 7 claims · 8 setups

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Rare Mendelian mutations (e.g., in sarcomere genes, ion channels, FBN1, LMNA) cause specific rare cardiovascular conditions (hypertrophic/dilated cardiomyopathy, long-QT syndrome, thoracic aortic aneurysm, progeria) but explain little of common CVD risk.

community-based subjects dallas mice exon community-based gene
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups

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LQTS-associated mutations were identified in 8 of 112 families studied

large lqts family mutation linkage direct single-strand
Net positive charge of HIV-1 CRF01_AE V3 sequence regulates viral sensitivity to humoral immunity.

PMID 18787705 · PMC2527523 · PloS one · 2008 · 8 claims · 5 setups

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Reduction in V3's net positive charge makes V3 less variable due to limited positive selection

hiv-1 recombinant plasma gp120 sequence single-round v3-peptide-based
Determination of Ras-GTP and Ras-GDP in patients with acute myelogenous leukemia (AML), myeloproliferative syndrome (MPS), juvenile myelomonocytic leukemia (JMML), acute lymphocytic leukemia (ALL), and malignant lymphoma: assessment of mutational and indirect activation.

PMID 18784923 · PMC2755762 · Annals of hematology · 2009 · 6 claims · 4 setups

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A non-radioactive, enzyme-coupled luminometric assay can quantify Ras activation as %GTP/(GTP+GDP) with high sensitivity (detects 1 fmol GTP)

bone n=23 3t3 ras genomic
Comprehensive genomic characterization defines human glioblastoma genes and core pathways.

PMID 18772890 · PMC2671642 · Nature · 2008 · 8 claims · 5 setups

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NF1 is a genuine human glioblastoma suppressor gene, inactivated by mutation, deletion, or expression loss in at least 23% of GBM samples

glioblastoma gbm matched sequenced copy gene methylation
Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.

PMID 18763667 · PMC3696193 · Connecticut medicine · 2008 · 8 claims · 6 setups

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Combined CYP2C9 and VKORC1 genotype can explain up to 45% of warfarin dose variability

genomic edta plasma cardiac genotyping extraction inr
Cardiovascular genetic medicine: genomic assessment of prognosis and diagnosis in patients with cardiomyopathy and heart failure.

PMID 20559924 · PMC4745893 · Journal of cardiovascular translational research · 2008 · 8 claims · 6 setups

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Molecular signature analysis (MSA) uses machine-learning/classification methods (e.g., PAM/nearest shrunken centroids) on gene expression patterns to classify samples by phenotype for diagnosis, prognosis, or therapy response.

myocardial endomyocardial peripheral pbmcs microarray allomap gene
Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

PMID 18728755 · PMC2519029 · Molecular vision · 2008 · 8 claims · 5 setups

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Male patients exhibit typical bilateral foveal retinoschisis in two retinal layers detected by OCT

retina genomic rs1 optical full-field multifocal
CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

PMID 18725978 · PMC2518116 · PloS one · 2008 · 7 claims · 6 setups

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TP53 mutations, especially those affecting the L2/L3 DNA-binding domains, are associated with resistance (progressive disease) to epirubicin therapy

snap-frozen tumor u-2-os patients pcr bisulphite loss
Oncogenic mutations in GNAQ occur early in uveal melanoma.

PMID 18719078 · PMC2634606 · Investigative ophthalmology & visual science · 2008 · 8 claims · 7 setups

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Activating GNAQ mutations at codon 209 occur in 33/67 (49%) of primary uveal melanomas, making it the most common known oncogenic mutation in UM

uveal peripheral normal well-characterized pcr sequencing array-based

Experiments

DNA methylation and mRNA expression of SYN III, a candidate gene for schizophrenia.

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

Association of the SerCys DISC1 polymorphism with human hippocampal formation gray matter and function during memory encoding.

Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

Phenotypic screening, transcriptional profiling, and comparative genomic analysis of an invasive and non-invasive strain of Candida albicans.

Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms.

Identification and recovery of minor HIV-1 variants using the heteroduplex tracking assay and biotinylated probes.

Association of GSK3B with Alzheimer disease and frontotemporal dementia.

Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

Net positive charge of HIV-1 CRF01_AE V3 sequence regulates viral sensitivity to humoral immunity.

Determination of Ras-GTP and Ras-GDP in patients with acute myelogenous leukemia (AML), myeloproliferative syndrome (MPS), juvenile myelomonocytic leukemia (JMML), acute lymphocytic leukemia (ALL), and malignant lymphoma: assessment of mutational and indirect activation.

Comprehensive genomic characterization defines human glioblastoma genes and core pathways.

Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.

Cardiovascular genetic medicine: genomic assessment of prognosis and diagnosis in patients with cardiomyopathy and heart failure.

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.

Oncogenic mutations in GNAQ occur early in uveal melanoma.