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 34

System / cell line: products ✕ Assay: fragment ✕ Clear

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups

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21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.

genomic pcr proband restriction sscp automated
Genetic analysis of MEFV gene pyrin domain in patients with Behçet's disease.

PMID 16951489 · PMC1592598 · Mediators of inflammation · 2006 · 6 claims · 2 setups

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No deletion, insertion, or point mutations were found in the pyrin domain of the MEFV gene in any of the 54 Turkish BD patients analyzed.

genomic pcr pcr direct
Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups

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MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments

blood pkd1 pcr-purified genomic long nested-pcr mrf-sscp
Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

PMID 10952774 · PMC2363536 · British journal of cancer · 2000 · 8 claims · 5 setups

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The estimated prevalence of BRCA1 mutations in the general Dutch breast cancer population is 2.1%

peripheral reamplified patients dsdi founder-deletion-specific direct
Genomic profiling of CpG methylation and allelic specificity using quantitative high-throughput mass spectrometry: critical evaluation and improvements.

PMID 17855397 · PMC2094090 · Nucleic acids research · 2007 · 8 claims · 5 setups

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A new weighted formula that accounts for the number of methylated CpG sites per fragment removes the bias of the original MassCLEAVE™ formula toward higher apparent methylation in fragments with more CpG sites.

inhbb cloned same fresh-frozen rnase masscleave clonal
Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis.

PMID 17456229 · PMC1868706 · BMC medical genetics · 2007 · 7 claims · 4 setups

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No mutations were identified in the VEGFR2 gene (exons 7, 18, 21, 27, promoter, or 5' UTR) in ALS patients

genomic pcr als direct restriction allele
MDM2 overexpression with alteration of the p53 protein and gene status in oral carcinogenesis.

PMID 10835493 · PMC5926374 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups

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MDM2 and p53 protein expression significantly increase in accordance with histological progression from normal mucosa to dysplasia to SCC.

oral paraffin-embedded rt-pcr-sscp direct restriction
Genetic distance and heterogenecity between quasispecies is a critical predictor to IFN response in Egyptian patients with HCV genotype-4.

PMID 17300723 · PMC1805740 · Virology journal · 2007 · 7 claims · 7 setups

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Genetic distance and heterogeneity between HCV quasispecies is a critical predictor of IFN response in Egyptian genotype-4 patients

serum pcr cloned 5'utr rt-pcr molecular sequencing
Differentiating human from animal isolates of Cryptosporidium parvum.

PMID 9866750 · PMC2640237 · Emerging infectious diseases · 1998 · 7 claims · 5 setups

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Two distinct genotypes of C. parvum (human/anthroponotic and bovine/zoonotic) exist, distinguishable by TRAP-C2 gene sequence differences at five nucleotide positions.

parvum cloned aligned fecal pcr pcr-rflp sequencing
Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

PMID 10780518 · PMC2363369 · British journal of cancer · 2000 · 8 claims · 4 setups

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Germline mutations of STK11 were found in 5 of 10 Korean PJS patients screened

genomic pcr pcr-single-strand cloning pcr-sscp
No association of factor XIII Val34Leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population.

PMID 11961312 · PMC3054847 · Journal of Korean medical science · 2002 · 5 claims · 4 setups

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FXIII Val34Leu polymorphism is absent or rare in both PICH patients and healthy controls among Koreans

genomic pcr randomly pich pcr single-stranded direct
Detection of YMDD motif mutants by oligonucleotide chips in lamivudine-untreated patients with chronic hepatitis B virus infection.

PMID 15308845 · PMC2816888 · Journal of Korean medical science · 2004 · 6 claims · 5 setups

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An oligonucleotide chip was developed using probes for wild-type YMDD, M552V, and three M552I probe variants to detect HBV polymerase YMDD motif mutations

serum hbv nested pcr oligonucleotide pcr restriction
PAX6 gene variations associated with aniridia in south India.

PMID 15086958 · PMC419353 · BMC medical genetics · 2004 · 7 claims · 5 setups

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Mutations in PAX6 cause the aniridia phenotype via haploinsufficiency (loss-of-function/null alleles)

genomic pcr aniridia sscp automated allele-specific
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

PMID 17134502 · PMC1684248 · BMC medical genetics · 2006 · 8 claims · 8 setups

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An intragenic deletion of 3,059 bp within the PITX2 gene, spanning the end of exon 5 through the start of exon 6, causes this family's severe ARS phenotype

genomic lymphoblastoid i-2 patients pcr quantitative long-range
A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.

PMID 18629826 · PMC2697596 · Human mutation · 2008 · 8 claims · 5 setups

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A novel 154-bp mtDNA control region deletion (m.16154_16307del154) was identified in a healthy family

blood-derived mtdna pcr fragment mtdna
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

PMID 18400097 · PMC2322962 · BMC medical genetics · 2008 · 7 claims · 5 setups

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A novel heterozygous/homozygous KCNQ1 mutation, T322M (C965T, exon 7), was identified in a Chinese family with both RWS and JLNS

genomic family direct pcr restriction
Identification of recombinant human papillomavirus type 16 variants.

PMID 19758676 · PMC2769496 · Virology · 2009 · 8 claims · 5 setups

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Concurrent infection with 8 HPV16 variants (1 prototype/European, 6 recombinant clones, plus later African-2) was detected in a single woman via PCR-based cloning and sequencing

cervical pcr-based recombinant-specific direct
Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.

PMID 19698114 · PMC2749045 · BMC infectious diseases · 2009 · 8 claims · 7 setups

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Three PRNP mutations—D178N, E200K, and M232R—were identified in heterozygosity in Korean probable CJD patients, marking their first report in this population.

csf 293t genomic pcr western recombinant sequencing
No PfATPase6 S769N mutation found in Plasmodium falciparum isolates from China.

PMID 18606023 · PMC2467427 · Malaria journal · 2008 · 6 claims · 3 setups

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The PfATPase6 S769N mutation is associated with reduced in vitro susceptibility (raised artemether IC50) to artemisinins

falciparum filter nested sanger extraction
52-kD SS-A/Ro: genomic structure and identification of an alternatively spliced transcript encoding a novel leucine zipper-minus autoantigen expressed in fetal and adult heart.

PMID 7561701 · PMC2192297 · The Journal of experimental medicine · 1995 · 7 claims · 7 setups

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The 52-kD SS-A/Ro gene spans 10 kb of DNA and is composed of seven exons, with the translation initiation codon in exon 2 and the leucine zipper encoded by exon 4.

molt-4 placental placenta fetal cdna genomic race

Experiments

Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Genetic analysis of MEFV gene pyrin domain in patients with Behçet's disease.

Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

Genomic profiling of CpG methylation and allelic specificity using quantitative high-throughput mass spectrometry: critical evaluation and improvements.

Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis.

MDM2 overexpression with alteration of the p53 protein and gene status in oral carcinogenesis.

Genetic distance and heterogenecity between quasispecies is a critical predictor to IFN response in Egyptian patients with HCV genotype-4.

Differentiating human from animal isolates of Cryptosporidium parvum.

Germline mutations of the STK11 gene in Korean Peutz-Jeghers syndrome patients.

No association of factor XIII Val34Leu polymorphism with primary intracerebral hemorrhage and healthy controls in Korean population.

Detection of YMDD motif mutants by oligonucleotide chips in lamivudine-untreated patients with chronic hepatitis B virus infection.

PAX6 gene variations associated with aniridia in south India.

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.

Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

Identification of recombinant human papillomavirus type 16 variants.

Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.

No PfATPase6 S769N mutation found in Plasmodium falciparum isolates from China.

52-kD SS-A/Ro: genomic structure and identification of an alternatively spliced transcript encoding a novel leucine zipper-minus autoantigen expressed in fetal and adult heart.