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 17

System / cell line: genomic ✕ Assay: glucose ✕ Clear

Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

PMID 17728498 · PMC2693808 · Journal of Korean medical science · 2007 · 7 claims · 4 setups

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Two Korean children with PND carry heterozygous KCNJ11 mutations (K170R and V59M) affecting Kir6.2.

peripheral case molecular continuous serum
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

PMID 19065272 · PMC2588657 · PloS one · 2008 · 6 claims · 5 setups

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Heterozygous UCP2 coding variants (parentally inherited) were identified in 2 of 10 CHI patients with no mutations in known CHI genes

peripheral saccharomyces yeast ins-1e dhplc proton western
Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

PMID 18382660 · PMC2270336 · PloS one · 2008 · 8 claims · 6 setups

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16 of 30 patients with suspected MODY (53%) carry GCK mutations, confirming GCK MODY diagnosis

genomic gck fasting pediatric direct molecular biochemical
Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

PMID 18437002 · PMC2526428 · Journal of Korean medical science · 2008 · 6 claims · 6 setups

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Two different PSEN1 mutations (G206S and M233T) were identified in Korean EOAD patients

genomic blood korean patients direct pcr apoe
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

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Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

genomic frozen skeletal korean direct rt-pcr-based pcr-restriction
Octopus-toolkit: a workflow to automate mining of public epigenomic and transcriptomic next-generation sequencing data.

PMID 29420797 · PMC5961211 · Nucleic acids research · 2018 · 7 claims · 3 setups

Has reproduction · 68

Octopus-toolkit is a stand-alone application that automatically installs required tools and retrieves/processes public epigenomic and transcriptomic NGS data (ChIP-seq, ATAC-seq, DNase-seq, MeDIP-seq, MNase-seq, RNA-seq) from GEO in a single step.

mammary saccharomyces chip-seq rna-seq
Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups

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The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.

genomic proband blood patients pcr long-range combined
Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome.

PMID 16700915 · PMC1482678 · Cardiovascular diabetology · 2006 · 8 claims · 6 setups

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A haplotype of three AdipoR2 variants (+795G/A, +870C/A, +963C/T) in perfect linkage disequilibrium is associated with higher plasma adiponectin levels and lower fasting triglyceride, VLDL-triglyceride, and VLDL-cholesterol levels

peripheral plasma subjects adipor1 sequencing plasma preparative
Alstrom syndrome (OMIM 203800): a case report and literature review.

PMID 18154657 · PMC2266715 · Orphanet journal of rare diseases · 2007 · 8 claims · 8 setups

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The proband is a compound heterozygote for two novel ALMS1 mutations, V424I (exon 6) and H3882Y (exon 17), causative for Alstrom syndrome

genomic healthy proband pcr pcr-rflp plasma
A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

PMID 15953877 · PMC2782211 · Journal of Korean medical science · 2005 · 7 claims · 8 setups

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The patient is a compound heterozygote for two SLC37A4 mutations: c.1042_1043delCT (L348fs) and c.443C>T (A148V)

liver genomic peripheral liver g6pase glucose-loading
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

PMID 18577546 · PMC2442425 · Brain : a journal of neurology · 2008 · 8 claims · 8 setups

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Co-occurring PED and epilepsy can be caused by autosomal dominant heterozygous mutations in SLC2A1, encoding the glucose transporter GLUT1

family genomic xenopus patients genome-wide pcr glucose
Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.

PMID 20003313 · PMC2797770 · Cardiovascular diabetology · 2009 · 7 claims · 6 setups

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The Val/Met255 mutation (G→A substitution at codon 255) in HNF4α is present at a considerable frequency among Iranian clinical MODY patients

peripheral serum pcr-rflp sanger biochemical
The many uses of a genome sequence.

PMID 11423005 · PMC138940 · Genome biology · 2001 · 8 claims · 8 setups

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Solved protein structures from structural genomics efforts can be used to model many other proteins by homology, aiding function prediction

recombinant mammalian chromosome chimpanzee x-ray quantitative tiling
The exonuclease Xrn1 activates transcription and translation of mRNAs encoding membrane proteins.

PMID 30899024 · PMC6428865 · Nature communications · 2019 · 7 claims · 8 setups

Has reproduction · 85

Xrn1 promotes translation of a specific group of mRNAs encoding membrane/secretome proteins, acting at translation initiation.

cerevisiae yeast xrn1∆ western luciferase polysome
Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.

PMID 18797263 · PMC4867177 · Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology · 2008 · 8 claims · 8 setups

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A patient with the PS-1 G206A mutation developed prominent extrapyramidal signs (EPS) shortly after starting the atypical neuroleptic risperidone, which resolved completely after the drug was discontinued.

cerebrospinal genomic brain blood elisa genetic apoe
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
Multilocus sequence typing of Cronobacter sakazakii and Cronobacter malonaticus reveals stable clonal structures with clinical significance which do not correlate with biotypes.

PMID 19852808 · PMC2770063 · BMC microbiology · 2009 · 8 claims · 6 setups

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A seven-locus MLST scheme (atpD, fusA, glnS, gltB, gyrB, infB, pps) reliably identifies and discriminates C. sakazakii and C. malonaticus strains

sakazakii cronobacter sequenced multilocus biotyping phylogenetic

Experiments

Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion.

Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Octopus-toolkit: a workflow to automate mining of public epigenomic and transcriptomic next-generation sequencing data.

Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

Genetic variants of adiponectin receptor 2 are associated with increased adiponectin levels and decreased triglyceride/VLDL levels in patients with metabolic syndrome.

Alstrom syndrome (OMIM 203800): a case report and literature review.

A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.

The many uses of a genome sequence.

The exonuclease Xrn1 activates transcription and translation of mRNAs encoding membrane proteins.

Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.

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.

Multilocus sequence typing of Cronobacter sakazakii and Cronobacter malonaticus reveals stable clonal structures with clinical significance which do not correlate with biotypes.