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 14

System / cell line: cardiac ✕ Assay: sequencing ✕ Clear

Transcriptomic Study on the Lungs of Broilers with Ascites Syndrome.

PMID 36611783 · PMC9817706 · Animals : an open access journal from MDPI · 2023 · 8 claims · 6 setups

Has reproduction · 71

1442 genes were differentially expressed in AS broiler lung vs normal lung (614 up-regulated, 828 down-regulated)

lung left blood heart sequencing functional quantitative
A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

Full-text index only

A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

blood-derived patient-derived serum genomic direct rt-pcr gelatin
Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.

PMID 19099557 · PMC2630295 · Cardiovascular ultrasound · 2008 · 8 claims · 4 setups

Full-text index only

HCM and about 50% of idiopathic DCM are familial diseases with an autosomal dominant pattern of inheritance

patients families genetic 2-dimensional cardiac
Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups

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Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed

genomic hela itgb1bp2 melusin direct minigene in-silico
Comprehensive data for studying serum exosome microRNA transcriptome in Parkinson's disease patients.

PMID 39406833 · PMC11480472 · Scientific data · 2024 · 8 claims · 8 setups

Has reproduction · 100

The study presents comprehensive serum exosome miRNA transcriptome data from four independent Japanese cohorts of PD patients and controls.

serum patients small mirna 123i-mibg
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

PMID 18625664 · PMC2692309 · Pediatrics · 2008 · 8 claims · 8 setups

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NPD type B involves multisystem disease including hepatosplenomegaly, interstitial lung disease, dyslipidemia, thrombocytopenia, and growth delay

leukocyte peripheral serum plasma gene enzyme chitotriosidase
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
Artificial Intelligence Approach in Machine Learning-Based Modeling and Networking of the Coronavirus Pathogenesis Pathway.

PMID 40699865 · PMC12191508 · Current issues in molecular biology · 2025 · 8 claims · 8 setups

Has reproduction

The coronavirus pathogenesis pathway is activated in SARS-CoV-2-infected iPSC-derived cardiac cells and in SARS-CoV/SARS-CoV-2-infected LUAD cells

ace2-transfected calu-3 luad ipsc-derived ipa sequencing convolutional
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
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups

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LQTS-associated mutations were identified in 8 of 112 families studied

large lqts family mutation linkage direct single-strand
Spns1-dependent endocardial lysosomal function drives valve morphogenesis through Notch1-signaling.

PMID 39720516 · PMC11667069 · iScience · 2024 · 7 claims · 8 setups

Has reproduction · 78

Autophagosomal, autolysosomal, and lysosomal vesicles significantly accumulate in the atrioventricular canal (AVC) and outflow tract (OFT)/bulboventricular regions and their developing valves during zebrafish heart development.

β-actin2 tgki cmv tgbac light-sheet lysotracker lysosome
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

genomic pcr-amplified tsc healthy dhplc direct pcr
Prevalence of the congenital long-QT syndrome.

PMID 19841298 · PMC2784143 · Circulation · 2009 · 7 claims · 6 setups

Full-text index only

The prevalence of LQTS among Caucasian apparently healthy live-births is at least 1:2,534 (95% CI 1:1,583-1:4,350)

neonates family heterologous 12-lead targeted transthoracic
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups

Has reproduction

HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition

cos-7 transiently patients parental ras co-immunoprecipitation immunoblotting

Experiments

Transcriptomic Study on the Lungs of Broilers with Ascites Syndrome.

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.

Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.

Comprehensive data for studying serum exosome microRNA transcriptome in Parkinson's disease patients.

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

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

Artificial Intelligence Approach in Machine Learning-Based Modeling and Networking of the Coronavirus Pathogenesis Pathway.

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

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

Spns1-dependent endocardial lysosomal function drives valve morphogenesis through Notch1-signaling.

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Prevalence of the congenital long-QT syndrome.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.