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: plasma ✕ Assay: amplification ✕ Clear

HIV-1 gp120 N-linked glycosylation differs between plasma and leukocyte compartments.

PMID 18215327 · PMC2265691 · Virology journal · 2008 · 8 claims · 6 setups

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N-linked glycosylation of HIV-1 gp120 differs between plasma and leukocyte compartments

plasma hiv-1 nlg presence env phylogenetic signature
Timing constraints of in vivo gag mutations during primary HIV-1 subtype C infection.

PMID 19890401 · PMC2768328 · PloS one · 2009 · 7 claims · 7 setups

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Reverse mutations to the wild type (HIV-1C consensus) in Gag appear significantly earlier than escape mutations from the wild type during primary infection

hiv-1 same sequenced gag single-genome mhc hypermutation
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
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

PMID 18682814 · PMC2493031 · Molecular vision · 2008 · 8 claims · 6 setups

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dHPLC detected the paternally inherited fetal CRB1 mutation (p.Cys896ter) in maternal plasma collected at 12 weeks gestation

maternal serial genomic chorion dhplc automated pcr
Evidence for limited genetic compartmentalization of HIV-1 between lung and blood.

PMID 19759830 · PMC2736399 · PloS one · 2009 · 8 claims · 7 setups

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Statistical evidence of genetic compartmentalization between lung and blood HIV-1 env sequences was found in 10 of 18 subjects.

paired lung tissue-pair pooled hiv-1 maximum statistical
Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene.

PMID 11953843 · PMC2364178 · British journal of cancer · 2002 · 7 claims · 5 setups

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Heterozygosity for the IVS14+1G>A DPYD splice-site mutation is associated with markedly reduced 5-FU clearance and severe 5-FU toxicity in the index patient.

plasma peripheral pbm genomic reversed-phase pharmacokinetic dpd
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 and biochemical studies in Argentinean patients with variegate porphyria.

PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups

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All 18 studied VP patients harbored PPOX gene mutations in heterozygous state

peripheral blood relative urine pcr rt-pcr enzyme
Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.

PMID 19795005 · PMC2752790 · Journal of Korean medical science · 2009 · 7 claims · 6 setups

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The patient has a homozygous D103N point mutation in the MC2R gene, with both parents heterozygous carriers

peripheral infant genomic serum rapid pcr
Detection of an Ala601Thr mutation of plasminogen gene in 3 out of 36 Korean patients with deep vein thrombosis.

PMID 12692411 · PMC3055032 · Journal of Korean medical science · 2003 · 7 claims · 3 setups

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Dysplasminogenemia was identified in 3 of 36 (8.3%) unrelated Korean DVT patients.

plasma genomic amidolytic immunoturbidimetric pcr
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
Apolipoprotein e, alcohol consumption, and risk of ischemic stroke: the Framingham Heart Study revisited.

PMID 19717024 · PMC2743951 · Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2009 · 8 claims · 6 setups

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ApoE E4 allele does not significantly modify the association between alcohol consumption and risk of ischemic stroke in subjects <65 years

framingham plasma genotyping structured clinical
First report of an HIV-1 triple recombinant of subtypes B, C and F in Buenos Aires, Argentina.

PMID 16959032 · PMC1570496 · Retrovirology · 2006 · 8 claims · 6 setups

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Nearly full-length sequencing of 10 HIV-1 seroincident MSM samples revealed 6 subtype B, 3 unique BF recombinants, and 1 novel B/C/F triple recombinant

pbmcs assembled hiv-1 triple nearly phylogenetic bootscan
Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups

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All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism

genomic pcr-amplified ldlr blood long-range cycle diagnostic
Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

PMID 18645989 · PMC5715470 · American journal of hematology · 2008 · 7 claims · 8 setups

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Monozygotic twin A (severe hemophilia A, FVIII:C <1%) shows complete nonrandom X-inactivation skewed toward the paternal (normal factor VIII) X-chromosome

peripheral cheek genomic twin factor karyotype microsatellite
Identification and recovery of minor HIV-1 variants using the heteroduplex tracking assay and biotinylated probes.

PMID 18948297 · PMC2602764 · Nucleic acids research · 2008 · 6 claims · 8 setups

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Incorporating a biotin tag into the HTA probe enables purification of labeled heteroduplexes and direct sequencing of the separated query strand, allowing recovery of minor variant sequences

hiv-1 biotin-hta-purified original recovered heteroduplex rt-pcr sanger
Escape from autologous neutralizing antibodies in acute/early subtype C HIV-1 infection requires multiple pathways.

PMID 19763269 · PMC2741593 · PLoS pathogens · 2009 · 8 claims · 7 setups

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Viral escape from autologous Nab occurred repeatedly (cyclically) throughout the first two years of infection in two subtype C-infected subjects despite high-titer Nab responses.

hiv-1 longitudinal 0-month single pseudovirus single site-directed
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups

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Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)

peripheral genomic convalescent cdna genomic breakpoint-spanning
Detection of mutations in EGFR in circulating lung-cancer cells.

PMID 18596266 · PMC3551471 · The New England journal of medicine · 2008 · 8 claims · 7 setups

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The CTC-chip microfluidic device isolates CTCs from NSCLC patients in sufficient quantity and purity to permit EGFR mutational analysis

blood archived nsclc plasma microfluidic allele-specific standard
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.

PMID 19720790 · PMC2780873 · Diabetes · 2009 · 7 claims · 8 setups

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INSR is disrupted by the chromosome 19 breakpoint, causing INSR haploinsufficiency (monoallelic expression) that explains the insulin resistance/dysglycemia phenotype

metaphase genomic ebv-transformed serum fluorescence multiplex sanger

Experiments

HIV-1 gp120 N-linked glycosylation differs between plasma and leukocyte compartments.

Timing constraints of in vivo gag mutations during primary HIV-1 subtype C infection.

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

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

Evidence for limited genetic compartmentalization of HIV-1 between lung and blood.

Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene.

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

Genetic and biochemical studies in Argentinean patients with variegate porphyria.

Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.

Detection of an Ala601Thr mutation of plasminogen gene in 3 out of 36 Korean patients with deep vein thrombosis.

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

Apolipoprotein e, alcohol consumption, and risk of ischemic stroke: the Framingham Heart Study revisited.

First report of an HIV-1 triple recombinant of subtypes B, C and F in Buenos Aires, Argentina.

Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.

Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

Identification and recovery of minor HIV-1 variants using the heteroduplex tracking assay and biotinylated probes.

Escape from autologous neutralizing antibodies in acute/early subtype C HIV-1 infection requires multiple pathways.

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Detection of mutations in EGFR in circulating lung-cancer cells.

Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.