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 90

System / cell line: clinical ✕ Assay: genotype ✕ Clear

The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.

PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups

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PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs

sophie mammalian xenopus lymphoblastoid resequencing cellular heterologous
Tissue plasminogen activator and plasminogen activator inhibitor type 1 gene polymorphism in patients with gastric ulcer complicated with bleeding.

PMID 12589088 · PMC3054991 · Journal of Korean medical science · 2003 · 6 claims · 5 setups

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The t-PA I/D or D/D genotype is significantly associated with duodenal (vs gastric) ulcer location

genomic randomly patients endoscopic allele-specific pcr logistic
Angiotensin-converting enzyme gene insertion/deletion polymorphism in migraine patients.

PMID 18366776 · PMC2311324 · BMC neurology · 2008 · 6 claims · 3 setups

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ACE I/D genotype and allele distributions do not differ significantly between migraine patients and controls

genomic migraine pcr clinical
Genomic diversity among drug sensitive and multidrug resistant isolates of Mycobacterium tuberculosis with identical DNA fingerprints.

PMID 19823582 · PMC2756628 · PloS one · 2009 · 8 claims · 8 setups

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M. tuberculosis isolates with identical DNA fingerprints can harbour substantial genomic diversity at the whole-genome level

tuberculosis whole-genome is6110 spoligotyping
Negative association of endothelial nitric oxide gene polymorphism with hypertension in Turkish patients: effect of ecNOS polymorphism on left ventricular hypertrophy.

PMID 16923191 · PMC1559722 · Cardiovascular ultrasound · 2006 · 7 claims · 4 setups

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ecNOS4a/b gene polymorphism is not associated with hypertension in Turkish patients

genomic hypertensive clinical pcr m-mode pulsed
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups

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NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots

blood-derived lymphocytes blood unrelated genomic rt-pcr microsatellite
The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

PMID 15799783 · PMC1079842 · BMC medical genetics · 2005 · 7 claims · 4 setups

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The GABBR1 G1465A polymorphism is not associated with TLE preceded by febrile seizures, failing to replicate the prior positive association

peripheral clinical pcr-rflp single sequencing
Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

PMID 16652333 · PMC1828612 · Human mutation · 2006 · 7 claims · 6 setups

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FBLN5 missense mutations are associated with ARMD in a European (UK/Dutch) cohort, confirming prior US findings

armd dutch fibulin pef6-ssflag mutation computational site-directed
COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.

PMID 19958500 · PMC2788389 · BMC genomics · 2009 · 8 claims · 6 setups

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COMUS is a bioinformatics system for detecting and depositing new mutations from patient DNA with a clinician-friendly interface

ab1 fasta mutation hemophilia base-calling sequence known-variant
DNA bar coding and pyrosequencing to identify rare HIV drug resistance mutations.

PMID 17576693 · PMC1934997 · Nucleic acids research · 2007 · 6 claims · 7 setups

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DNA bar coding combined with pyrosequencing allows parallel, deep characterization of drug resistance mutations across many HIV populations in a single experiment

hiv pooled plasma pyrosequencing conventional rt-pcr
Association study of T102C 5-HT(2A) polymorphism in schizophrenic patients: diagnosis, psychopathology, and suicidal behavior.

PMID 17506229 · PMC3181846 · Dialogues in clinical neuroscience · 2007 · 7 claims · 4 setups

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The T102C 5-HT2A genotype/allele frequencies were not associated with suicide attempt history or suicide attempt characteristics (lethality, violence) in schizophrenic patients.

lymphocyte schizophrenic pcr-rflp structured brief
Genomic diversity of oseltamivir-resistant influenza virus A (H1N1), Luxembourg, 2007-08.

PMID 19788831 · PMC2819849 · Emerging infectious diseases · 2009 · 8 claims · 5 setups

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NA gene sequences of oseltamivir-resistant viruses (ORVs) form a distinct phylogenetic cluster separate from oseltamivir-sensitive viruses (OSVs)

influenza clinical partial sanger pyrosequencing molecular
Molecular epidemiology of measles viruses in the United States, 1997-2001.

PMID 12194764 · PMC2732556 · Emerging infectious diseases · 2002 · 8 claims · 6 setups

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The diversity of measles virus genotypes observed in the US from 1997–2001 reflects multiple imported sources of virus, indicating no strain of measles is endemic in the United States.

b95a clinical pcr measles viral extraction rt-pcr
Multiplexed genetic analysis using an expanded genetic alphabet.

PMID 15319316 · PMC1592527 · Clinical chemistry · 2004 · 7 claims · 6 setups

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MultiCode PLx is a three-step platform (PCR, target-specific extension, liquid chip decoding) performed in a single reaction vessel and completed in ~3 h

genomic synthetic subset newborn multicode eracode automated
A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

PMID 17392686 · PMC2642918 · Molecular vision · 2007 · 8 claims · 5 setups

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A novel COL1A1 nonsense mutation (Q644X, C2464T in exon 36) causes osteogenesis imperfecta type I in this Chinese family

patients family genomic clinical microsatellite two-point
Genotypic analysis of two hypervariable human cytomegalovirus genes.

PMID 18649324 · PMC2658010 · Journal of medical virology · 2008 · 8 claims · 8 setups

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UL146 sequences from 184 samples fall into the same 14 genotypes (G1-G14) previously defined, with no new genotypes found.

hcmv clinical pcr ul146 pcr nested molecular
Genetic variation in Pneumocystis carinii isolates from different geographic regions: implications for transmission.

PMID 10827116 · PMC2640877 · Emerging infectious diseases · 2000 · 8 claims · 4 setups

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Genotype frequency distribution patterns varied significantly by patient's place of diagnosis but not by place of birth

pneumocystis ethanol-preserved genotype pcr nested purification
In B-CLL, the codon 72 polymorphic variants of p53 are not related to drug resistance and disease prognosis.

PMID 16109171 · PMC1208864 · BMC cancer · 2005 · 7 claims · 5 setups

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The p53 codon 72 polymorphism is not associated with drug resistance or overall survival in B-CLL

peripheral fresh b-cll sscp-pcr disc kaplan-meier
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).

PMID 16887033 · PMC1559599 · BMC medical genetics · 2006 · 6 claims · 5 setups

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A multiplexed suspension bead array (Luminex) assay was developed to genotype 8 Ashkenazi-prevalent disease alleles including GBA c.1448T>C

genomic de-identified multiplex sanger clinical
Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

PMID 19097825 · PMC2692687 · Clinical immunology (Orlando, Fla.) · 2009 · 8 claims · 7 setups

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CORO1A deficiency, caused by a paternal 2bp frameshift mutation combined with a maternal de novo 600kb deletion at chromosome 16p11.2, is the molecular cause of this patient's T-B+NK+ SCID

ebv-transformed genomic father peripheral intracellular snp sequencing

Experiments

The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.

Tissue plasminogen activator and plasminogen activator inhibitor type 1 gene polymorphism in patients with gastric ulcer complicated with bleeding.

Angiotensin-converting enzyme gene insertion/deletion polymorphism in migraine patients.

Genomic diversity among drug sensitive and multidrug resistant isolates of Mycobacterium tuberculosis with identical DNA fingerprints.

Negative association of endothelial nitric oxide gene polymorphism with hypertension in Turkish patients: effect of ecNOS polymorphism on left ventricular hypertrophy.

The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.

Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.

DNA bar coding and pyrosequencing to identify rare HIV drug resistance mutations.

Association study of T102C 5-HT(2A) polymorphism in schizophrenic patients: diagnosis, psychopathology, and suicidal behavior.

Genomic diversity of oseltamivir-resistant influenza virus A (H1N1), Luxembourg, 2007-08.

Molecular epidemiology of measles viruses in the United States, 1997-2001.

Multiplexed genetic analysis using an expanded genetic alphabet.

A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

Genotypic analysis of two hypervariable human cytomegalovirus genes.

Genetic variation in Pneumocystis carinii isolates from different geographic regions: implications for transmission.

In B-CLL, the codon 72 polymorphic variants of p53 are not related to drug resistance and disease prognosis.

Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.