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 35

System / cell line: peripheral ✕ Assay: genetic ✕ Clear

Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

PMID 17728498 · PMC2693808 · Journal of Korean medical science · 2007 · 7 claims · 4 setups

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Two Korean children with PND carry heterozygous KCNJ11 mutations (K170R and V59M) affecting Kir6.2.

peripheral case molecular continuous serum
A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups

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The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals

peripheral g2385r patients genotype pcr full clinical
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
Geographical genomics of human leukocyte gene expression variation in southern Morocco.

PMID 19966804 · PMC2798927 · Nature genetics · 2010 · 8 claims · 8 setups

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Gene expression differs substantially between locations (up to 38% of transcripts), driven largely by a rural-versus-urban lifestyle contrast rather than ethnicity or gender.

peripheral blood genotype randomly genome-wide population admixture
Cannabinoid type-1 receptor gene polymorphisms are associated with central obesity in a Southern Brazilian population.

PMID 18776593 · PMC3827795 · Disease markers · 2008 · 8 claims · 5 setups

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The CNR1 4895G allele is associated with waist-to-hip ratio (WHR)

peripheral same pcr-rflp anthropometric biochemical
A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

PMID 18811933 · PMC2565682 · BMC cancer · 2008 · 7 claims · 2 setups

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The hMYH haplotype T/A variant allele is present at significantly higher frequency in CRC patients than in healthy controls

peripheral cos-7 dhplc immunofluorescence
Integrated analysis of genetic and proteomic data identifies biomarkers associated with adverse events following smallpox vaccination.

PMID 18923431 · PMC2692715 · Genes and immunity · 2009 · 7 claims · 6 setups

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A two-stage strategy (Random Forest filtering followed by decision tree modeling) can integrate categorical genetic and continuous proteomic data to identify biomarkers of AE risk

ebv-transformed serum combined rf-filtered snp serum random
Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population.

PMID 18655717 · PMC2515290 · BMC medical genetics · 2008 · 8 claims · 4 setups

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rs7903146 T allele frequency does not differ significantly between Saudi T2D cases and controls (OR 1.04, 95% CI 0.86-1.27, P=0.675)

peripheral saudi genotype subset snp case-control haplotype
A case of intolerance to warfarin dosing in an intermediate metabolizer of CYP2C9.

PMID 16385662 · PMC2810600 · Yonsei medical journal · 2005 · 7 claims · 2 setups

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A patient heterozygous for CYP2C9*3 (genotype CYP2C9*1/*3) developed an extremely elevated INR on standard warfarin dosing, indicating impaired warfarin metabolism.

peripheral same pcr prothrombin
Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.

PMID 16569242 · PMC1444927 · BMC medical genetics · 2006 · 7 claims · 4 setups

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Linkage and haplotype analysis in the South African family are highly suggestive of linkage to the ARVC6 locus on chromosome 10p12-p14

south genomic family genetic direct bioinformatic
A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.

PMID 17596672 · PMC2693656 · Journal of Korean medical science · 2007 · 7 claims · 8 setups

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Two members of a Korean family (mother and son) with generalized RTH harbor a novel insertion mutation, 1358_1359insC, in exon 10 of the THRB gene, causing a frameshift (Leu454PhefsX11)

peripheral serum thyroid pcr radioimmunoassay thyroid
Association of the GSTP1 and NQO1 polymorphisms and head and neck squamous cell carcinoma risk.

PMID 17179690 · PMC2721932 · Journal of Korean medical science · 2006 · 6 claims · 1 setups

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Allele/genotype frequencies of GSTP1 Ile105Val and NQO1 Trp139Arg did not differ significantly between HNSCC cases and controls overall

peripheral pcr-based
Critical care: applying genomics to inflammation outcomes.

PMID 16330338 · PMC1314943 · Environmental health perspectives · 2005 · 8 claims · 6 setups

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Genetic factors drive key aspects of an individual's inflammatory outcome after trauma, burns, or sepsis

leukocytes whole-blood healthy peripheral genomewide whole-genome microarray
The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

PMID 15799783 · PMC1079842 · BMC medical genetics · 2005 · 7 claims · 4 setups

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The GABBR1 G1465A polymorphism is not associated with TLE preceded by febrile seizures, failing to replicate the prior positive association

peripheral clinical pcr-rflp single sequencing
Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.

PMID 20029656 · PMC2796875 · Molecular vision · 2009 · 6 claims · 5 setups

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No disease-causing mutations in COL4A3 or COL4A4 were found to be related to KC.

genomic patients pcr sequencing genetic
Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

PMID 19796717 · PMC2818230 · Bone · 2010 · 7 claims · 7 setups

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A novel homozygous frame-shift mutation (c.485Tdel; p.Glu163ArgfsX53) in DMP1 exon 6 causes ARHP in the three affected kindred members

peripheral pcr-amplified patients serum nucleotide restriction serum
Alpha-adducin Gly460Trp polymorphism and essential hypertension in Korea.

PMID 15608390 · PMC2816309 · Journal of Korean medical science · 2004 · 6 claims · 3 setups

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The Gly460Trp polymorphism of ADD-1 is not associated with essential hypertension in a Korean population

peripheral subjects population genotyping blood genetic
Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis.

PMID 17163998 · PMC1762011 · BMC gastroenterology · 2006 · 7 claims · 2 setups

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The ACE I/D polymorphism shows no significant association with TCP or FCPD pathogenesis, fibrosis, or progression

peripheral pcr sanger
A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.

PMID 17554401 · PMC1885554 · International journal of medical sciences · 2007 · 8 claims · 6 setups

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A novel VNTR polymorphism (TTTC repeat) was discovered at -1241 nucleotides in the 5'-flanking region of NPPB, with 8 alleles ranging from 9 to 19 repeats.

genomic plasma serum n=317 pcr-sscp nucleotide genotyping
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

PMID 19926015 · PMC2880864 · Journal of the American College of Cardiology · 2009 · 8 claims · 6 setups

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Comprehensive open-reading-frame RYR2 mutational analysis reveals possible CPVT1 mutations located outside the three canonical hot-spot domains

genomic hair-root reference patients pcr screening multi-tissue

Experiments

Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.

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

Geographical genomics of human leukocyte gene expression variation in southern Morocco.

Cannabinoid type-1 receptor gene polymorphisms are associated with central obesity in a Southern Brazilian population.

A haplotype variation affecting the mitochondrial transportation of hMYH protein could be a risk factor for colorectal cancer in Chinese.

Integrated analysis of genetic and proteomic data identifies biomarkers associated with adverse events following smallpox vaccination.

Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population.

A case of intolerance to warfarin dosing in an intermediate metabolizer of CYP2C9.

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes.

A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.

Association of the GSTP1 and NQO1 polymorphisms and head and neck squamous cell carcinoma risk.

Critical care: applying genomics to inflammation outcomes.

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

Alpha-adducin Gly460Trp polymorphism and essential hypertension in Korea.

Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis.

A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.