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 27

System / cell line: wild-type ✕ Assay: rflp ✕ Clear

Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene.

PMID 12877753 · PMC184376 · BMC neurology · 2003 · 8 claims · 5 setups

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A novel frameshift mutation (1902A insertion) in exon 17 of the Krit1 gene creates a premature TAA stop codon, predicting a truncated Y634X protein.

patients genomic mri sscp sanger
Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.

PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups

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No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers

peripheral pcr bacteremia pcr-rflp sequencing blood
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups

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The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.

microdissected resected non-tumor liver pcr-rflp immunohistochemistry western
Detection of atovaquone-proguanil resistance conferring mutations in Plasmodium falciparum cytochrome b gene in Luanda, Angola.

PMID 16597338 · PMC1513587 · Malaria journal · 2006 · 6 claims · 4 setups

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No pfcytb mutations associated with atovaquone-proguanil treatment failure (codon 268 wild type, T802A, A803C) were found in the Luanda study population.

plasmodium blood second clone pcr-rflp chelex agarose
Transgenic rats carrying human c-Ha-ras proto-oncogene are highly susceptible to N-nitrosomethylbenzylamine induction of esophageal tumorigenesis.

PMID 12149139 · PMC5927067 · Japanese journal of cancer research : Gann · 2002 · 8 claims · 6 setups

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Hras128 rats are highly susceptible to NMBA-induced esophageal tumorigenesis, developing multiple large squamous cell tumors at 100% incidence within 10 weeks, versus fewer/smaller tumors in wild-type rats

hras128 esophageal pcr endogenous carcinogenesis pcr-rflp direct
K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.

PMID 9514049 · PMC2149957 · British journal of cancer · 1998 · 6 claims · 4 setups

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K-ras codon 12 mutation is present in all carcinoma lesions examined with no intratumour heterogeneity, consistent with an early carcinogenic event

resected pcr-rflp-positive lung pcr-rflp direct selective
Detection of the DCC gene product in normal and malignant colorectal tissues and its relation to a codon 201 mutation.

PMID 9484816 · PMC2149930 · British journal of cancer · 1998 · 6 claims · 5 setups

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DCC protein expression is lost in the majority of colorectal tumours while retained in all normal colonic tissue

matched cryosections genomic pcr-rflp rt-pcr northern
Lack of mutation at codon 531 of SRC in advanced colorectal cancers from Italian patients.

PMID 11161376 · PMC2363715 · British journal of cancer · 2001 · 6 claims · 4 setups

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No SRC codon 531 mutation was detected in any of 155 Italian colorectal cancer cases (171 tissue specimens, primary tumours and liver metastases)

colorectal liver scalar subset pcr-rflp direct
Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups

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The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD

genomic same pooled pcr-rflp pcr-based cross-tabulation
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

PMID 18776955 · PMC2530518 · Molecular vision · 2008 · 7 claims · 4 setups

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Two novel MYOC mutations, Pro13Leu (38C→T) and Gln337Stop (1009C del), are likely responsible for POAG pathogenesis in this pedigree

genomic family myoc pcr-rflp sequencing clinical
Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

PMID 19825160 · PMC2767350 · BMC medical genetics · 2009 · 8 claims · 6 setups

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A novel 16 bp deletion variant (g.-6_+10del) was identified in the DJ-1 5'-UTR, spanning the transcription start site, 93 bp downstream of a known Sp1 site.

genomic hek293 m17 south sscp dual-luciferase pcr-rflp
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
Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups

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Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)

hypertensive lymphocytes βenac xenopus targeted pcr-rflp plasma
Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.

PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups

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A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.

bone fibroblast 32d.cl8.6 32d rt-pcr genomic flow
Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.

PMID 17895983 · PMC1976591 · PloS one · 2007 · 8 claims · 5 setups

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Sequencing of complete mtDNA genomes in 23 pediatric patients identified 27 significant variants (12 novel, 15 known) associated with mitochondrial encephalomyopathies.

blood-derived lymphocytes maternal wild-type complete respiratory pcr-rflp
Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups

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A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.

genomic pcr-amplified computational pcr restriction pcr-rflp
Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups

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OPTC is a candidate gene involved in POAG pathogenesis

genomic pcr optc retinal pcr-sscp dhplc sequencing
Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups

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Mutations in USH2A are responsible for most cases of USH2

genomic family probands ush2a direct restriction single
Ankyrin-linked hereditary spherocytosis in an African-American kindred.

PMID 18704959 · PMC11304496 · American journal of hematology · 2008 · 6 claims · 7 setups

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A novel heterozygous initiator methionine mutation (ATG→ATA, Met1Ile), termed ankyrin New Haven, was identified in exon 1 of the ankyrin-1 gene as the cause of HS in this kindred.

genomic erythrocyte rabbit dhplc sscp nucleotide
Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.

PMID 19760750 · PMC2784016 · Human mutation · 2009 · 8 claims · 6 setups

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Two-round fast COLD-PCR followed by Sanger sequencing detects TP53 mutations at abundances as low as ~1%, below the sensitivity of conventional Sanger sequencing (~20-25%)

lung wild-type matched paired two-round real-time airs-rflp

Experiments

Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene.

Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.

A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

Detection of atovaquone-proguanil resistance conferring mutations in Plasmodium falciparum cytochrome b gene in Luanda, Angola.

Transgenic rats carrying human c-Ha-ras proto-oncogene are highly susceptible to N-nitrosomethylbenzylamine induction of esophageal tumorigenesis.

K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.

Detection of the DCC gene product in normal and malignant colorectal tissues and its relation to a codon 201 mutation.

Lack of mutation at codon 531 of SRC in advanced colorectal cancers from Italian patients.

Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.

Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.

Identification of a novel functional deletion variant in the 5'-UTR of the DJ-1 gene.

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

Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.

Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.

Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.

Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.

Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

Ankyrin-linked hereditary spherocytosis in an African-American kindred.

Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma.