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 63

System / cell line: negative ✕ Assay: mutation ✕ Clear

Characterizing natural variation using next-generation sequencing technologies.

PMID 19801172 · PMC3994700 · Trends in genetics : TIG · 2009 · 8 claims · 8 setups

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Next-generation sequencing enables complete, genome-wide surveys of genetic variation at unprecedented resolution, overcoming limitations of genotyping panels and microarrays.

pichia individuals saccharomyces individual whole-genome partial comparative
Mutation analysis in primary immunodeficiency diseases: case studies.

PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups

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Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results

mother parents ebv-transformed nemo genomic flow northern
Nursing advocacy in a postgenomic age.

PMID 19850180 · PMC2766592 · The Nursing clinics of North America · 2009 · 8 claims · 3 setups

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Nurses need genetics/genomics competency (knowledge, reasoning, and action) to be effective patient advocates in the post-genomic era

young individuals registered qualitative expert
The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors.

PMID 19956657 · PMC2777318 · PloS one · 2009 · 6 claims · 4 setups

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The FOXL2 c.402C>G mutation is not commonly found in a wide variety of other cancers and is likely pathognomonic for A-GCTs and closely related tumors.

tumor ovarian kgn high sanger taqman
Mutations of p53 in morphologically non-neoplastic mucosa of long-standing ulcerative colitis.

PMID 11223540 · PMC5926702 · Japanese journal of cancer research : Gann · 2001 · 8 claims · 4 setups

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MNNM-p53OE shares identical p53 mutations with the coexisting/adjoining carcinoma and/or dysplasia, indicating a common clonal origin

colectomy microdissected same immunohistochemistry nested
Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

PMID 16764716 · PMC1586026 · BMC cancer · 2006 · 8 claims · 6 setups

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The 9106C>T (Q2960X) and IVS16-2A>G BRCA2 mutations are recurrent in MBC families from North-East Italy and may reflect a founder effect.

blood germline tumor family mutation mlpa microsatellite
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

pfm selected point-mutation-negative family dhplc bidirectional multiplex
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

PMID 18162506 · PMC7611804 · Diabetes · 2008 · 8 claims · 8 setups

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Heterozygous INS mutations are a common cause of permanent neonatal diabetes (PNDM) diagnosed before 6 months of age

peripheral patients mody young-onset pcr microsatellite variant
Frequent p53 mutation in brain (fetal)-type glycogen phosphorylase positive foci adjacent to human 'de novo' colorectal carcinomas.

PMID 11384100 · PMC2363669 · British journal of cancer · 2001 · 7 claims · 6 setups

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BGP positive foci occur sporadically in the transitional mucosa adjacent to 'de novo' colorectal carcinomas in all cases studied

colorectal microdissected pcr-amplified immunohistochemistry pcr-sscp cloning
Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

PMID 16507150 · PMC1413975 · Breast cancer research : BCR · 2006 · 6 claims · 7 setups

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kConFab is a collaborative resource providing epidemiological, clinical, and biospecimen data from high-risk familial breast/ovarian cancer families, available to researchers worldwide for ethically approved, peer-reviewed projects.

germline unaffected index randomly brca1 tyrer-cuzick strp
Backseat drivers take the wheel.

PMID 18068625 · PMC2705833 · Cancer cell · 2007 · 8 claims · 8 setups

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Systematic resequencing combined with functional validation can distinguish rare driver FLT3 mutations from passenger mutations in AML patients negative for known activating mutations

pretreatment baf3 additional normal targeted baf3 immunoprecipitation
Advances in breast cancer: pathways to personalized medicine.

PMID 19088015 · PMC4535810 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 8 setups

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Germline BRCA1/BRCA2 mutations are strong predictors of breast and ovarian cancer, conferring a 40-80% lifetime risk of breast cancer

population-based women breast high-risk germline genome-wide microarray
Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

PMID 18803811 · PMC2556318 · BMC medical genetics · 2008 · 8 claims · 7 setups

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CDKN2A germline mutations were found in 7 of 25 (28.0%) Slovenian melanoma families

genomic relative p16ink4a pcr pearson student's
Mutation detection using ENDO1: application to disease diagnostics in humans and TILLING and Eco-TILLING in plants.

PMID 18433472 · PMC2386800 · BMC molecular biology · 2008 · 7 claims · 6 setups

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Co-agroinfiltration of ENDO1 and p19 constructs into N. benthamiana leaves gives high-level transient expression of active, mismatch-specific ENDO1 via a simple purification protocol

benthamiana test genomic hiv-1 transient heteroduplex mutation
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

PMID 18362173 · PMC2292215 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups

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Somatic JAK1 mutations occur in ALL and are more prevalent among adult T-cell precursor ALL (T-ALL) than B-ALL

genomic jak1-deficient u4c bw5147 dhplc stat1 cytokine-independent
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

PMID 20022607 · PMC3891822 · Journal of the neurological sciences · 2010 · 8 claims · 7 setups

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The heteroplasmic m.12276G>A mtDNA tRNA Leu(CUN) mutation causes a childhood-onset, slowly progressive encephalopathy with ataxia, cognitive impairment, dyspraxia, and sensorineural hearing loss

skeletal muscle genomic individual histochemistry biochemical direct
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

PMID 19649643 · PMC3104467 · Acta neuropathologica · 2010 · 8 claims · 8 setups

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GRN transcript haploinsufficiency, previously shown in blood-derived cells, does not hold in most brain regions of GRN mutation carriers

peripheral postmortem hek293 qrt-pcr microarray rt-pcr
VarDetect: a nucleotide sequence variation exploratory tool.

PMID 19091032 · PMC2638149 · BMC bioinformatics · 2008 · 8 claims · 2 setups

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VarDetect is a stand-alone software tool that automatically detects nucleotide variation (SNPs) from fluorescence-based chromatogram traces using pre-calculated peak content ratios and artifact-handling rules.

genomic vardetect automatic software
Comprehensive analysis of mitophagy in HPV-related head and neck squamous cell carcinoma.

PMID 37161060 · PMC10170109 · Scientific reports · 2023 · 8 claims · 8 setups

Has reproduction · 73

In HPV-associated HNSCC, the mitophagy process affects tumour development, immune cell infiltration and prognosis.

tcga-hnscc gse65858 hpv-positive tcga bulk microarray qrt-pcr
Detection of p53 gene mutations in aspiration biopsy specimens from suspected breast cancers by polymerase chain reaction-single strand conformation polymorphism analysis.

PMID 7730136 · PMC5920757 · Japanese journal of cancer research : Gann · 1995 · 4 claims · 4 setups

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Detection of p53 gene mutation by PCR-SSCP in aspirated breast biopsy specimens is a helpful method for more accurate diagnosis of suspected breast cancer

aspiration aspirated biopsy pcr-sscp flow p53

Experiments

Characterizing natural variation using next-generation sequencing technologies.

Mutation analysis in primary immunodeficiency diseases: case studies.

Nursing advocacy in a postgenomic age.

The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors.

Mutations of p53 in morphologically non-neoplastic mucosa of long-standing ulcerative colitis.

Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

Frequent p53 mutation in brain (fetal)-type glycogen phosphorylase positive foci adjacent to human 'de novo' colorectal carcinomas.

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.

Backseat drivers take the wheel.

Advances in breast cancer: pathways to personalized medicine.

Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Mutation detection using ENDO1: application to disease diagnostics in humans and TILLING and Eco-TILLING in plants.

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

VarDetect: a nucleotide sequence variation exploratory tool.

Comprehensive analysis of mitophagy in HPV-related head and neck squamous cell carcinoma.

Detection of p53 gene mutations in aspiration biopsy specimens from suspected breast cancers by polymerase chain reaction-single strand conformation polymorphism analysis.