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 36

System / cell line: case ✕ Assay: direct ✕ Clear

Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

PMID 16479084 · PMC2733967 · Journal of Korean medical science · 2006 · 8 claims · 7 setups

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Two female infants with isolated diffuse mesangial sclerosis (IDMS) and early-onset end-stage renal failure carried heterozygous WT1 mutations (exon 8 366Arg>His; exon 9 396Asp>Tyr)

genomic kidney blood kidneys direct parental renal
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 between the ACCN1 gene and multiple sclerosis in Central East Sardinia.

PMID 17534430 · PMC1868958 · PloS one · 2007 · 8 claims · 6 setups

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Microsatellite D17S798 in the 17q11.2 region shows significant association with MS

nuclear accn1 genetic genotype microsatellite direct snp
Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.

PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups

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Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients

genomic pcr elbow peripheral pcr subcloning gel
Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups

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TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.

genomic healthy irish case mutation direct taqman
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
Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas.

PMID 16545110 · PMC1475604 · BMC cancer · 2006 · 8 claims · 4 setups

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Smoking is associated with adenoma and CRC development, with the association strongest in tumors lacking APC truncation mutations

formalin-fixed ffpe paired study direct pcr restriction
Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.

PMID 18631405 · PMC2496902 · BMC medical genetics · 2008 · 7 claims · 2 setups

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The Flt-1 d(TG)n repeat polymorphism is not associated with the development of preeclampsia in Korean pregnant women

genomic same pcr clinical
Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.

PMID 7669582 · PMC2033876 · British journal of cancer · 1995 · 8 claims · 5 setups

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A novel missense mutation (TGG→CGG, Trp133→Arg) in nm23-H2 was found in one stage III serous ovarian carcinoma

ovarian case matched same pcr-sscp subcloning loh
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

PMID 16327884 · PMC1298935 · PLoS genetics · 2005 · 8 claims · 8 setups

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Point mutations in FOXE1, GLI2, JAG2, LHX8, MSX1, MSX2, SATB2, SKI, SPRY2, and TBX10 may be rare causes of isolated CL/P

family additional unrelated mutant direct linkage targeted
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

PMID 16652333 · PMC1828612 · Human mutation · 2006 · 7 claims · 6 setups

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FBLN5 missense mutations are associated with ARMD in a European (UK/Dutch) cohort, confirming prior US findings

armd dutch fibulin pef6-ssflag mutation computational site-directed
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
Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.

PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups

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Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts

european african individuals nondiabetic snp variant direct
Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study.

PMID 20040103 · PMC2808306 · BMC medical genetics · 2009 · 6 claims · 5 setups

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Long form DRD4 uVNTR alleles (≥5 repeats) are associated with increased risk of schizophrenia

blood-derived case-control pcr-rflp direct pcr-based
PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

PMID 20003494 · PMC2806404 · Journal of negative results in biomedicine · 2009 · 8 claims · 6 setups

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None of the detected PALB2 variants, including 1592delT, show significant association with PRCA at the population level in Finland

blood finnish combined formalin-fixed direct additional statistical
Glucosidase-beta variations and Lewy body disorders.

PMID 18829375 · PMC2970615 · Parkinsonism & related disorders · 2009 · 8 claims · 1 setups

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GBA pathogenic mutations were found in 3% of LBD cases versus 1% of controls, a non-significant difference (OR 3.0, 95% CI 0.3–29, p=0.3)

post-mortem long-range
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

PMID 10188893 · PMC2362698 · British journal of cancer · 1999 · 7 claims · 7 setups

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Presence of at least one ovarian cancer case in a small family strongly predicts finding a BRCA1 or BRCA2 mutation.

genomic pcr family truncation pcr multiplex
Computation of haplotypes on SNPs subsets: advantage of the "global method".

PMID 17067372 · PMC1636337 · BMC genetics · 2006 · 6 claims · 4 setups

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The global method for subhaplotyping always yields a lower error rate than the direct method across datasets and SNP subset sizes

gh1 apoe coalescent-model-simulated griv computational genetic
A high-throughput method for quantifying alleles and haplotypes of the malaria vaccine candidate Plasmodium falciparum merozoite surface protein-1 19 kDa.

PMID 16626494 · PMC1459863 · Malaria journal · 2006 · 8 claims · 5 setups

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Pyrosequencing, after adjustment to a standard curve, provides accurate and precise estimates of allele frequencies in mixed MSP-1_19 infections

falciparum cloned pyrosequencing pcr
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

Experiments

Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

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

Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia.

Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.

Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.

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

Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas.

Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia.

Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.

Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

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

Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.

Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study.

PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

Glucosidase-beta variations and Lewy body disorders.

Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.

Computation of haplotypes on SNPs subsets: advantage of the "global method".

A high-throughput method for quantifying alleles and haplotypes of the malaria vaccine candidate Plasmodium falciparum merozoite surface protein-1 19 kDa.

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