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 561

System / cell line: controls ✕ Clear

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

PMID 17615541 · PMC2768756 · Molecular vision · 2007 · 8 claims · 4 setups

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Eleven different RS1 mutations were identified in 12 Chinese XLRS families, including four novel mutations (26delT, 488delG, Asp145His, Arg156Gly).

patients genomic xlrs eyes comprehensive pcr single-flash
Sequence, "subtle" alternative splicing and expression of the CYYR1 (cysteine/tyrosine-rich 1) mRNA in human neuroendocrine tumors.

PMID 17442112 · PMC1863428 · BMC cancer · 2007 · 7 claims · 5 setups

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CYYR1 mRNA undergoes a 'subtle' alternative splicing event generating two isoforms (CAG- and CAG+) differing by a single alanine codon at the exon3/exon4 junction

neuroendocrine tumors normal cyyr1 rt-pcr quantitative psti
Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups

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OPTC is a candidate gene involved in POAG pathogenesis

genomic pcr optc retinal pcr-sscp dhplc sequencing
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

PMID 17341461 · PMC1874617 · Nucleic acids research · 2007 · 8 claims · 7 setups

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QuantiSNP (OB-HMM) provides probabilistic quantification of copy number states and significantly improves accuracy of segmental aneuploidy identification and breakpoint mapping relative to existing tools (BeadStudio/Illumina)

genomic same pseudo-normal artificially snp fish molecular
Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups

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Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2

genomic available leukocytes affected linkage pcr single
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups

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Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes

peripheral saccharomyces yeast ins-1e dhplc proton western
Association of adiponectin gene polymorphisms with type 2 diabetes in an African American population enriched for nephropathy.

PMID 19056609 · PMC2628626 · Diabetes · 2009 · 8 claims · 5 setups

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SNP rs182052 in intron 1 of ADIPOQ is associated with diabetic nephropathy in African Americans

african snp sequencing admixture
Biomarker discovery in neurodegenerative diseases: a proteomic approach.

PMID 18938247 · PMC2939006 · Neurobiology of disease · 2009 · 6 claims · 8 setups

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Proteomic profiling of CSF and plasma can identify candidate protein biomarkers that distinguish AD patients from controls with high sensitivity and specificity

csf plasma brain 2-dge lc-ms seldi-tof-ms
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
The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.

PMID 18781223 · PMC2532703 · Molecular vision · 2008 · 8 claims · 4 setups

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None of the three MFRP sequence variants tested (rs3814762, rs36015759, rs2510143) showed a statistically significant association with acute angle-closure glaucoma

genomic same eyes pcr genotype linkage
Lymphocytes from patients with type 1 diabetes display a distinct profile of chromatin histone H3 lysine 9 dimethylation: an epigenetic study in diabetes.

PMID 18776137 · PMC2584123 · Diabetes · 2008 · 6 claims · 7 setups

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Lymphocytes (but not monocytes) from type 1 diabetic patients show a distinct subset of genes with significantly increased H3K9me2 compared with healthy controls.

blood pooled gene chip-chip conventional quantitative
A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

PMID 18706439 · PMC2584361 · Vision research · 2008 · 8 claims · 7 setups

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A novel N104K mutation in GCAP1's third EF-hand (EF3) motif was identified in two affected members of a family with autosomal dominant cone dystrophy, the first naturally occurring mutation in the EF3 Ca2+-binding loop.

genomic patients high recombinant pcr full-field paired-flash
Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

PMID 18701470 · PMC2562548 · Cancer research · 2008 · 7 claims · 4 setups

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Carriers of common ATM variants (>=1% frequency) have a statistically significant reduction in risk of contralateral breast cancer (CBC)

peripheral wecare atm mutation case-control variant
Analysis of variants in DNA damage signalling genes in bladder cancer.

PMID 18638378 · PMC2488326 · BMC medical genetics · 2008 · 7 claims · 5 setups

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SNPs in DSB signalling genes may modulate predisposition to bladder cancer and influence effects of environmental exposures

peripheral case-control unphased extracted snp confirmatory logistic
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
A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

PMID 18618005 · PMC2447816 · Molecular vision · 2008 · 6 claims · 4 setups

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A heterozygous c.327C>A transversion in exon 3 of CRYGC causes a nonsense mutation (C109X) that cosegregates with autosomal dominant congenital nuclear cataract in a Chinese family.

genomic type family γc-crystallin pcr comparative clinical
Logical Analysis of Data (LAD) model for the early diagnosis of acute ischemic stroke.

PMID 18616825 · PMC2492849 · BMC medical informatics and decision making · 2008 · 7 claims · 5 setups

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An LAD classification model built from a support-set of 3 peptide peaks can distinguish stroke patients from controls with 75% accuracy on an independent validation set

plasma discretized seldi-tof serum logical
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
Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP.

PMID 18588689 · PMC2474586 · BMC medical genetics · 2008 · 8 claims · 6 setups

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A region spanning the gene RAI and the 5' portion of XPD is associated with postmenopausal breast cancer

peripheral genomic genotype independent linkage targeted genotyping
MDM2 gene SNP309 T/G and p53 gene SNP72 G/C do not influence diffuse large B-cell non-Hodgkin lymphoma onset or survival in central European Caucasians.

PMID 18433491 · PMC2375899 · BMC cancer · 2008 · 6 claims · 4 setups

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MDM2 SNP309 T/G genotype is not associated with DLBCL or NHL onset, diagnosis, or age of onset in central European Caucasians, including in pre-menopausal women

genomic nhl pcr case-control survival

Experiments

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

Sequence, "subtle" alternative splicing and expression of the CYYR1 (cysteine/tyrosine-rich 1) mRNA in human neuroendocrine tumors.

Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

Association of adiponectin gene polymorphisms with type 2 diabetes in an African American population enriched for nephropathy.

Biomarker discovery in neurodegenerative diseases: a proteomic approach.

Association of GSK3B with Alzheimer disease and frontotemporal dementia.

The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.

Lymphocytes from patients with type 1 diabetes display a distinct profile of chromatin histone H3 lysine 9 dimethylation: an epigenetic study in diabetes.

A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

Analysis of variants in DNA damage signalling genes in bladder cancer.

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

A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Logical Analysis of Data (LAD) model for the early diagnosis of acute ischemic stroke.

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

Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP.

MDM2 gene SNP309 T/G and p53 gene SNP72 G/C do not influence diffuse large B-cell non-Hodgkin lymphoma onset or survival in central European Caucasians.