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 10

System / cell line: peripheral ✕ Assay: fluid ✕ 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

Full-text index only

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

peripheral case molecular continuous serum
Leber's hereditary optic neuropathy--case report and literature review.

PMID 15692724 · PMC11126178 · Sao Paulo medical journal = Revista paulista de medicina · 2004 · 8 claims · 8 setups

Full-text index only

Genetic testing confirmed a homoplasmic G11778A mitochondrial DNA mutation in the patient, confirming the diagnosis of LHON

peripheral left optic visual pcr muscle visual
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.

PMID 18955570 · PMC2585845 · The Journal of experimental medicine · 2008 · 7 claims · 8 setups

Full-text index only

Familial primary PAP is caused by compound heterozygous mutations in CSF2RA: a paternal G174R point mutation and a maternal 1.6-Mb deletion at Xp22.33 encompassing CSF2RA.

peripheral pbmc blood lung flow western gm-csf
CD14 C-159T and early infection with Pseudomonas aeruginosa in children with cystic fibrosis.

PMID 15975149 · PMC1168907 · Respiratory research · 2005 · 6 claims · 3 setups

Full-text index only

CD14 -159CC genotype is associated with increased risk of early P. aeruginosa infection in children with CF

peripheral plasma bal cd14 plasma bronchoalveolar
Developmental and genetic regulation of human surfactant protein B in vivo.

PMID 18776725 · PMC2765709 · Neonatology · 2009 · 8 claims · 7 setups

Full-text index only

Pro-SP-B peptides are more common in developmentally less mature humans (amniotic fluid, neonatal tracheal aspirates) than in adults

amniotic tracheal bronchoalveolar simultaneous immunoblotting reducing gene
The proteogenomic path towards biomarker discovery.

PMID 18764911 · PMC2574627 · Pediatric transplantation · 2008 · 8 claims · 8 setups

Full-text index only

Serum creatinine is a widely used but non-ideal biomarker for renal transplant monitoring because it lacks specificity and sensitivity for graft injury

renal urine breast chronic microarray immunoassay gel
The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups

Full-text index only

The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)

parental rfc hela blood genomic [3h]5-methyltetrahydrofolate northern
Prenatal molecular diagnosis of beta-thalassemia: report on the first two cases in Romania.

PMID 20108460 · PMC5654072 · Journal of medicine and life · 2008 · 7 claims · 5 setups

Full-text index only

Combined DGGE, ARMS-PCR and PCR-RFLP molecular testing accurately detects β-thalassemia mutations in fetal DNA obtained by amniocentesis or CVS

fetal β-globin parental str denaturing amplification
Systems spatiotemporal dynamics of traumatic brain injury at single-cell resolution reveals humanin as a therapeutic target.

PMID 35951114 · PMC9372016 · Cellular and molecular life sciences : CMLS · 2022 · 8 claims · 8 setups

Has reproduction · 98

Coordinated gene expression patterns across cell types are disrupted and re-organized by mTBI with distinct regional, cellular, and temporal (24-h vs 7-day) specificity.

hippocampus frontal peripheral cell-type single-cell svm-based ligand-receptor
Polymorphism in the tumour necrosis factor receptor II gene is associated with circulating levels of soluble tumour necrosis factor receptors in rheumatoid arthritis.

PMID 16277675 · PMC1297570 · Arthritis research & therapy · 2005 · 8 claims · 6 setups

Full-text index only

The TNF-RII T676G polymorphism is associated with circulating levels of sTNF-RI and sTNF-RII in RA, with a trend TT > TG > GG

serum genomic peripheral synovial elisa pcr-rflp clinical

Experiments

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

Leber's hereditary optic neuropathy--case report and literature review.

Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.

CD14 C-159T and early infection with Pseudomonas aeruginosa in children with cystic fibrosis.

Developmental and genetic regulation of human surfactant protein B in vivo.

The proteogenomic path towards biomarker discovery.

The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

Prenatal molecular diagnosis of beta-thalassemia: report on the first two cases in Romania.

Systems spatiotemporal dynamics of traumatic brain injury at single-cell resolution reveals humanin as a therapeutic target.

Polymorphism in the tumour necrosis factor receptor II gene is associated with circulating levels of soluble tumour necrosis factor receptors in rheumatoid arthritis.