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 59

System / cell line: mutations ✕ Assay: restriction ✕ Clear

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
Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.

PMID 20003313 · PMC2797770 · Cardiovascular diabetology · 2009 · 7 claims · 6 setups

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The Val/Met255 mutation (G→A substitution at codon 255) in HNF4α is present at a considerable frequency among Iranian clinical MODY patients

peripheral serum pcr-rflp sanger biochemical
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

pfm selected point-mutation-negative family dhplc bidirectional multiplex
Detection of p53 mutations in precancerous gastric tissue.

PMID 14520466 · PMC2394306 · British journal of cancer · 2003 · 8 claims · 6 setups

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p53 mutations can be detected in precancerous gastritis and intestinal metaplasia tissue using the restriction site mutation (RSM) assay

gastric enzyme-resistant gastritis pylori-positive restriction sequencing electron
Alteration of the p53 tumor suppressor gene occurs independently of K-ras activation and more frequently in serous adenocarcinomas than in other common epithelial tumors of the human ovary.

PMID 7852189 · PMC5919385 · Japanese journal of cancer research : Gann · 1994 · 7 claims · 4 setups

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p53 gene mutations occur more frequently in serous adenocarcinomas than in other common epithelial ovarian tumors combined

common ovarian restriction sscp direct
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
Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.

PMID 7577469 · PMC2033918 · British journal of cancer · 1995 · 6 claims · 4 setups

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No p53 mutations were found in the hotspot region (exons 4-8) of 25 phaeochromocytomas by PCR-SSCP and sequencing

phaeochromocytoma pcr-amplified formalin-fixed single pcr-sscp restriction immunohistochemistry
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
Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

PMID 11556836 · PMC2375067 · British journal of cancer · 2001 · 7 claims · 3 setups

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BRCA1 and BRCA2 mutations are not significantly more prevalent in patients with bilateral breast cancer than in matched unilateral controls

genomic clinical pcr-sscp restriction kaplan-meier
Addressing the age-old question of old age.

PMID 15287970 · PMC507873 · Genome biology · 2004 · 8 claims · 6 setups

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Dietary restriction and reduced temperature extend Drosophila lifespan via intrinsically different demographic mechanisms: dietary restriction lowers intrinsic frailty, while lower temperature reduces the rate of senescence.

drosophila populations australian centenarians demographic historical peptide
p53 mutations occur in clinical, but not latent, human prostate carcinoma.

PMID 7737911 · PMC5920585 · Japanese journal of cancer research : Gann · 1995 · 5 claims · 4 setups

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p53 point mutations occur in clinical prostate cancer but not in latent (subclinical) prostate carcinoma

prostate sscp rflp direct
Population carrier frequency of hMSH2 and hMLH1 mutations.

PMID 11104559 · PMC2363440 · British journal of cancer · 2000 · 6 claims · 6 setups

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Population carrier frequency of hMSH2/hMLH1 mutations in people aged 15-74 years is estimated at 1:3139 (95% CI 1:1247-1:7626)

peripheral scottish finnish baltimore cdna pedigree systematic
Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families.

PMID 9099970 · PMC2222784 · British journal of cancer · 1997 · 6 claims · 6 setups

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No germline TP53 mutations (exons 5-8) were found in 128 breast cancer patients from 109 families with familial cancer.

genomic tumour paired constant restriction sequencing
p53 mutation is a poor prognostic indicator for survival in patients with hepatocellular carcinoma undergoing surgical tumour ablation.

PMID 9514057 · PMC2149958 · British journal of cancer · 1998 · 8 claims · 6 setups

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p53 mutations were found in 8 of 12 HCCs with cirrhosis due to viral hepatitis and in both patients with sarcomatoid change

resected exon p53 hcc gc-clamped sscp 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
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups

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Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma

peripheral genomic ebv-transformed conformation pira-pcr rt-pcr
Crystallin gene mutations in Indian families with inherited pediatric cataract.

PMID 18587492 · PMC2435160 · Molecular vision · 2008 · 8 claims · 5 setups

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Crystallin gene mutations account for 16.6% of inherited pediatric cataract in this south Indian population

genomic pcr affected pediatric single direct restriction
Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

PMID 10408842 · PMC2362327 · British journal of cancer · 1999 · 8 claims · 3 setups

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No mutations were found in the coding region of GDNF in any of the 36 brain tumours analysed

sporadic tumour tumour-derived pcr loss semi-quantitative
Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

PMID 17655765 · PMC1950490 · BMC medical genetics · 2007 · 8 claims · 3 setups

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No coding mutations were found in NR2E1 or SNX3 in five patients with MMEP or related phenotypes

patients unaffected sanger restriction
TP53 mutation analyses on breast carcinomas: a study of paraffin-embedded archival material.

PMID 8761369 · PMC2074687 · British journal of cancer · 1996 · 8 claims · 8 setups

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CDGE can be used to successfully detect TP53 mutations (exons 5-8) in DNA extracted from archival paraffin-embedded breast carcinoma tissue

archival pcr breast tumour pcr-cdge direct restriction

Experiments

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

Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Detection of p53 mutations in precancerous gastric tissue.

Alteration of the p53 tumor suppressor gene occurs independently of K-ras activation and more frequently in serous adenocarcinomas than in other common epithelial tumors of the human ovary.

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

Molecular and immunohistochemical analysis of P53 in phaeochromocytoma.

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

Mutations of the BRCA1 and BRCA2 genes in patients with bilateral breast cancer.

Addressing the age-old question of old age.

p53 mutations occur in clinical, but not latent, human prostate carcinoma.

Population carrier frequency of hMSH2 and hMLH1 mutations.

Screening for TP53 mutations in patients and tumours from 109 Swedish breast cancer families.

p53 mutation is a poor prognostic indicator for survival in patients with hepatocellular carcinoma undergoing surgical tumour ablation.

PAX6 gene variations associated with aniridia in south India.

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

Crystallin gene mutations in Indian families with inherited pediatric cataract.

Mutation and deletion analysis of GFR alpha-1, encoding the co-receptor for the GDNF/RET complex, in human brain tumours.

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.

TP53 mutation analyses on breast carcinomas: a study of paraffin-embedded archival material.