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 55

System / cell line: lymphocytes ✕ Assay: pcr ✕ Clear

High mitochondrial DNA stability in B-cell chronic lymphocytic leukemia.

PMID 19924307 · PMC2775629 · PloS one · 2009 · 7 claims · 5 setups

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mtDNA control-region instability is not the primary causal factor in B-CLL

lymphocytes paired clinical-pathological pcr autosomal likelihood
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups

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BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant

lymphocytes brca2 brca2-null ashkenazi rt-pcr splicing allelic
A novel germline mutation of PTEN associated with brain tumours of multiple lineages.

PMID 12085208 · PMC2746590 · British journal of cancer · 2002 · 8 claims · 6 setups

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A novel heterozygous germline PTEN mutation (Arg234Gln, R234Q) was identified in a patient with glioma and prior meningioma

peripheral tumour u87mg baf3 pcr microsatellite proliferation
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
High throughput detection of M6P/IGF2R intronic hypermethylation and LOH in ovarian cancer.

PMID 16432260 · PMC1345698 · Nucleic acids research · 2006 · 8 claims · 5 setups

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A 96-well high-throughput bisulfite modification (HTBM) method was developed and validated against single-sample bisulfite modification (SSBM), producing comparable methylation results even from as little as 3 ng DNA.

genomic normal advanced bisulfite-treated methylation-specific bisulfite snp
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

PMID 18465152 · PMC2441586 · Neurogenetics · 2008 · 8 claims · 8 setups

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37% (16/43) of Dutch index patients with early-onset recessive cerebellar ataxia carry SACS mutations, indicating ARSACS is far more frequent than previously estimated

genomic identified sacs-mutation-positive alleles pcr clinical brain
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
Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

PMID 10780518 · PMC2363369 · British journal of cancer · 2000 · 8 claims · 4 setups

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Germline mutations of STK11 were found in 5 of 10 Korean PJS patients screened

genomic pcr pcr-single-strand cloning pcr-sscp
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups

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Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)

peripheral genomic convalescent cdna genomic breakpoint-spanning
Eight previously unidentified mutations found in the OA1 ocular albinism gene.

PMID 16646960 · PMC1468396 · BMC medical genetics · 2006 · 7 claims · 5 setups

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Sequencing of the nine OA1 exons in 72 individuals identified ten different mutations across seven unrelated families and three sporadic cases.

genomic oa1 direct long-range splice-site
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
Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

PMID 14735200 · PMC2409576 · British journal of cancer · 2004 · 8 claims · 2 setups

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Seven germline INK4a-ARF changes (five novel) were found in 7 of 89 patients (8%) suspected of genetic predisposition to melanoma.

genomic pcr real-time
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.

PMID 16684822 · PMC1865080 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 3 setups

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DAX1 mutations are a relatively frequent cause of adrenal failure in 46,XY phenotypic boys with adrenal hypoplasia

genomic direct targeted
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups

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NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots

blood-derived lymphocytes blood unrelated genomic rt-pcr microsatellite
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
High frequency of mitochondrial genome instability in human endometrial carcinomas.

PMID 12915881 · PMC2376924 · British journal of cancer · 2003 · 7 claims · 3 setups

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56% (28 out of 50) of endometrial carcinoma cases carry one or more somatic mtDNA changes (deletion, point mutation, or mtMSI) compared with matched normal tissue

endometrial paraffin-embedded long-range pcr polyacrylamide
Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.

PMID 8513767 · PMC1519656 · Environmental health perspectives · 1993 · 7 claims · 4 setups

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In vivo hprt mutants from 63 independent donors were molecularly characterized by cDNA and genomic DNA PCR/sequencing.

peripheral hprt-mutant pcr limiting cdna multiplex
Molecular genetic evidence for unifocal origin of advanced epithelial ovarian cancer and for minor clonal divergence.

PMID 7577492 · PMC2033953 · British journal of cancer · 1995 · 7 claims · 4 setups

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LOH analysis has higher sensitivity than DNA flow cytometry for detecting unifocal origin of bilateral ovarian tumors

bilateral paraffin-embedded ovarian peripheral loh flow isolation
Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.

PMID 10427478 · PMC3851081 · Disease markers · 1998 · 8 claims · 6 setups

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E237G shows no significant association with atopy or asthma in the Swiss population (3.7% in patients vs 2.6% in controls)

genomic extracted cdna patients pcr rt-pcr restriction
IgVH genes from different anatomical regions, with different histopathological patterns, of a rheumatoid arthritis patient suggest cyclic re-entry of mature synovial B-cells in the hypermutation process.

PMID 11056671 · PMC17813 · Arthritis research · 2000 · 8 claims · 5 setups

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Somatically mutated IgVH genes with amino acid deletions and mixed IgV molecules were found in all three anatomical regions, suggesting a novel pathway for generating (auto)antibody specificities

synovial same cryosections formalin-fixed cdna seminested double

Experiments

High mitochondrial DNA stability in B-cell chronic lymphocytic leukemia.

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

A novel germline mutation of PTEN associated with brain tumours of multiple lineages.

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

High throughput detection of M6P/IGF2R intronic hypermethylation and LOH in ovarian cancer.

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

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

Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

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.

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.

The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

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

High frequency of mitochondrial genome instability in human endometrial carcinomas.

Characterization of in vivo somatic mutations at the hypoxanthine phosphoribosyltransferase gene of a human control population.

Molecular genetic evidence for unifocal origin of advanced epithelial ovarian cancer and for minor clonal divergence.

Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.

IgVH genes from different anatomical regions, with different histopathological patterns, of a rheumatoid arthritis patient suggest cyclic re-entry of mature synovial B-cells in the hypermutation process.