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 21

System / cell line: blood ✕ Assay: fluid ✕ Clear

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

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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

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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
Novel mutation of the PRNP gene of a clinical CJD case.

PMID 17129366 · PMC1693557 · BMC infectious diseases · 2006 · 7 claims · 5 setups

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A novel PRNP point mutation at codon 193 (ACC→ATC, T193I, C578T transition) was identified in a CJD patient, heterozygous for threonine/isoleucine

cerebrospinal genomic western pcr electroencephalography
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
Proteomic profiling of the amniotic fluid to detect inflammation, infection, and neonatal sepsis.

PMID 17227133 · PMC1769412 · PLoS medicine · 2007 · 8 claims · 8 setups

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Higher MR scores (severe, 3-4) are associated with significantly shorter amniocentesis-to-delivery intervals than minimal (1-2) or no (0) inflammation

amniotic placental blood seldi-tof elisa clinical
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

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

peripheral left optic visual pcr muscle visual
Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.

PMID 16502494 · PMC2687569 · Yonsei medical journal · 2006 · 8 claims · 6 setups

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Two patients with congenital nephrogenic diabetes insipidus (NDI) presented with severe bilateral hydronephrosis, megaureter, and a distended bladder in the absence of any urinary tract obstruction.

patients genomic fluid abdominal blood
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.

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

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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

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

peripheral plasma bal cd14 plasma bronchoalveolar
High-accuracy proteome maps of human body fluids.

PMID 17140426 · PMC1794581 · Genome biology · 2006 · 8 claims · 5 setups

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Large-scale, high-accuracy MS analyses of tear fluid, urine, and seminal plasma provide high-quality datasets useful for biomarker discovery

tear-duct urine seminal blood lc-ms large-scale decoy
Developmental and genetic regulation of human surfactant protein B in vivo.

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

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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
Performance of mitochondrial DNA mutations detecting early stage cancer.

PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups

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The Affymetrix MitoChip resequencing array is a high-throughput, higher-resolution alternative to capillary sequencing for detecting mtDNA point mutations and heteroplasmy in clinical specimens.

matched blood mtdna low-quantity mitochondrial capillary str
The proteogenomic path towards biomarker discovery.

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

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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
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
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
The process chain for peptidomic biomarker discovery.

PMID 16410650 · PMC3850862 · Disease markers · 2006 · 8 claims · 3 setups

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Peptidomics (comprehensive analysis of peptides and small proteins <20 kDa) fills a methodological gap left by standard proteomics, which mainly addresses proteins in the ~10-200 kDa range.

general body patients 2d-gel peptidomics peptidomic
MAPU: Max-Planck Unified database of organellar, cellular, tissue and body fluid proteomes.

PMID 17090601 · PMC1781136 · Nucleic acids research · 2007 · 8 claims · 8 setups

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MAPU is a unified, freely accessible database integrating organellar, cellular, tissue and body fluid proteomes generated by high-resolution mass spectrometry.

urine tear seminal breast gel lc-ms3 in-depth
Hierarchical cell-type identifier accurately distinguishes immune-cell subtypes enabling precise profiling of tissue microenvironment with single-cell RNA-sequencing.

PMID 36681937 · PMC10025442 · Briefings in bioinformatics · 2023 · 8 claims · 8 setups

Has reproduction · 94

HiCAT is a hierarchical, marker-based cell-type identifier that uses gene set analysis (GSA) scoring with markers structured in a three-level taxonomy tree (major-type, minor-type, subset)

pbmc cord melanoma lung scrna-seq computational
Sequencing of 16S rRNA gene: a rapid tool for identification of Bacillus anthracis.

PMID 12396926 · PMC2730316 · Emerging infectious diseases · 2002 · 7 claims · 4 setups

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All 86 B. anthracis isolates tested share an identical 16S rRNA gene sequence, designated 16S type 6

bacillus clinical additional 16s nested comparative
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

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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

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.

Novel mutation of the PRNP gene of a clinical CJD case.

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

Proteomic profiling of the amniotic fluid to detect inflammation, infection, and neonatal sepsis.

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

Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.

Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.

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

High-accuracy proteome maps of human body fluids.

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

Performance of mitochondrial DNA mutations detecting early stage cancer.

The proteogenomic path towards biomarker discovery.

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

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

The process chain for peptidomic biomarker discovery.

MAPU: Max-Planck Unified database of organellar, cellular, tissue and body fluid proteomes.

Hierarchical cell-type identifier accurately distinguishes immune-cell subtypes enabling precise profiling of tissue microenvironment with single-cell RNA-sequencing.

Sequencing of 16S rRNA gene: a rapid tool for identification of Bacillus anthracis.

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