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: white ✕ Assay: blood ✕ Clear

Genetic analysis of 10 unrelated Korean families with p22-phox-deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea.

PMID 19949658 · PMC2775850 · Journal of Korean medical science · 2009 · 8 claims · 4 setups

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All 12 analyzed CGD patients from 10 unrelated Jeju families carry an identical homozygous c.7C>T substitution in exon 1 of CYBA, predicted to cause a nonsense mutation (p.Q3X)

peripheral genomic dhr western rt-pcr
Monocytes serve as Shiga toxin carriers during the development of hemolytic uremic syndrome.

PMID 39871175 · PMC11773931 · Cellular & molecular biology letters · 2025 · 8 claims · 8 setups

Has reproduction · 84

Monocytes are the primary carriers that transport Stx2 from the periphery to the kidney during STEC-induced HUS

peripheral thp-1 cfse-labeled evs single-cell flow toxin-cell
Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons.

PMID 11207042 · PMC2363770 · British journal of cancer · 2001 · 8 claims · 4 setups

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FAMA using large bifluorescent amplicons (avg 1.2 kb) with chemical cleavage of mismatch, combined with DGGE for 9 small exons, allows sensitive, unbiased scanning of the entire BRCA2 coding sequence with few amplicons (15 FAMA + 9 DGGE)

genomic pcr fluorescence-assisted denaturing pcr
The minisequencing method: a simple strategy for genetic screening of MEN 2 families.

PMID 12042015 · PMC116428 · BMC genetics · 2002 · 6 claims · 4 setups

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Minisequencing reproduces the same mutation information obtained by direct sequencing of PCR products at RET codons 634 and 918 in all tested MEN 2 family members.

genomic pcr same white pcr minisequencing direct
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
Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.

PMID 1486847 · PMC1519635 · Environmental health perspectives · 1992 · 8 claims · 3 setups

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Somatic K-ras mutations were found in one-third of lung carcinomas studied, but no N-ras mutations were detected.

lung plasmid pcr-based denaturing
Identification of intrinsic genes across general hypertension, hypertension with left ventricular remodeling, and uncontrolled hypertension.

PMID 36277786 · PMC9582241 · Frontiers in cardiovascular medicine · 2022 · 7 claims · 8 setups

Has reproduction · 73

FBXW4 and 13 other genes are uniquely enriched in the general hypertension group

peripheral white four gse75360 microarray gene weighted
Pleiotropic effects of MORC2 derive from its epigenetic signature.

PMID 40302207 · PMC12782172 · Brain : a journal of neurology · 2026 · 8 claims · 8 setups

Has reproduction

A MORC2-specific DNA methylation episignature exists that is universal across all MORC2-associated phenotypes and conserved across blood and fibroblast tissue

blood fibroblasts fibroblast patient-derived methylation svm phenotype-specific
Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing.

PMID 31443728 · PMC6708158 · Genome medicine · 2019 · 6 claims · 8 setups

Has reproduction · 68

A near-perfect chronological age predictor can in principle be developed from DNA methylation when training sample size is sufficiently large.

blood unrelated sgpd lbc1921 methylation reml permutation
Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

PMID 10952774 · PMC2363536 · British journal of cancer · 2000 · 8 claims · 5 setups

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The estimated prevalence of BRCA1 mutations in the general Dutch breast cancer population is 2.1%

peripheral reamplified patients dsdi founder-deletion-specific direct
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
Risk of pancreatic cancer in families with Lynch syndrome.

PMID 19861671 · PMC4091624 · JAMA · 2009 · 7 claims · 3 setups

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Families with germline MMR gene mutations (Lynch Syndrome) have an 8.6-fold increased risk of pancreatic cancer compared to the general U.S. population.

individuals extracted same modified germline proportional
Optimal scaling of digital transcriptomes.

PMID 24223126 · PMC3819321 · PloS one · 2013 · 8 claims · 8 setups

Has reproduction · 67

Fifteen existing and novel transcript-count normalization algorithms can be compared with two novel, mutually independent metrics: the number of "uniform" genes (sufficiently low coefficient of variation after normalization) and low average Spearman correlation between normalized expression profiles of gene pairs.

tissues bodymap mapped 16-sample bulk read transcript
Headloop suppression PCR and its application to selective amplification of methylated DNA sequences.

PMID 16091627 · PMC1184225 · Nucleic acids research · 2005 · 8 claims · 5 setups

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Headloop PCR: a 5' primer extension homologous to internal amplicon sequence causes hairpin formation after incorporation, suppressing further amplification of the matching sequence while unaffected sequences amplify normally

plasmid genomic bacterial real-time methylation-specific
KEGG spider: interpretation of genomics data in the context of the global gene metabolic network.

PMID 19094223 · PMC2646283 · Genome biology · 2008 · 8 claims · 8 setups

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KEGG spider, using a global 'pathway-free' metabolic network framework, provides deeper insight into metabolism variations than existing enrichment-based methods.

diffuse-type liver renal anaplastic differential proteomic proteomics
The D2 dopamine receptor gene and nicotine dependence among bladder cancer patients and controls.

PMID 19842028 · PMC3719969 · Behavior genetics · 2010 · 8 claims · 5 setups

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Among ever-smoking controls, A1 and B1 genotypes were associated with greater smoking intensity and younger age at smoking initiation than A2A2/B2B2

peripheral bladder current genotype pcr-rflp structured fagerström
Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups

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21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.

genomic pcr proband restriction sscp automated
Predictive genomics of cardioembolic stroke.

PMID 19064790 · PMC2752697 · Stroke · 2009 · 8 claims · 4 setups

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A Bayesian network multivariate model achieves 86% predictive accuracy (AUC) for cardioembolic stroke on fitted values

blood-derived gasros same custom bayesian roc
A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis.

PMID 18667089 · PMC2533022 · BMC genomics · 2008 · 7 claims · 2 setups

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HFCC is a method/software for genome-wide epistasis detection using case-control multi-locus association analysis, combining a fast computing algorithm with flexibility to test a variety of epistatic models.

blood-derived simulated genome-wide simulation-based
Bioinformatics and system biology approaches to identify pathophysiological impact of COVID-19 to the progression and severity of neurological diseases.

PMID 34601390 · PMC8483812 · Computers in biology and medicine · 2021 · 8 claims · 8 setups

Has reproduction · 69

COVID-19 and neurological diseases (NDs) share pathophysiological connections that influence disease progression and severity

peripheral hippocampal spinal peritumoral microarray protein-protein

Experiments

Genetic analysis of 10 unrelated Korean families with p22-phox-deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea.

Monocytes serve as Shiga toxin carriers during the development of hemolytic uremic syndrome.

Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons.

The minisequencing method: a simple strategy for genetic screening of MEN 2 families.

Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.

Identification of intrinsic genes across general hypertension, hypertension with left ventricular remodeling, and uncontrolled hypertension.

Pleiotropic effects of MORC2 derive from its epigenetic signature.

Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing.

Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

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

Risk of pancreatic cancer in families with Lynch syndrome.

Optimal scaling of digital transcriptomes.

Headloop suppression PCR and its application to selective amplification of methylated DNA sequences.

KEGG spider: interpretation of genomics data in the context of the global gene metabolic network.

The D2 dopamine receptor gene and nicotine dependence among bladder cancer patients and controls.

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Predictive genomics of cardioembolic stroke.

A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis.

Bioinformatics and system biology approaches to identify pathophysiological impact of COVID-19 to the progression and severity of neurological diseases.