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 19

System / cell line: mutations ✕ Assay: pcr-based ✕ Clear

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

Full-text index only

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
Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.

PMID 8609062 · PMC5921065 · Japanese journal of cancer research : Gann · 1996 · 5 claims · 2 setups

Full-text index only

Mutations of hMLH1 or hMSH2 play only a limited role in the development of sporadic endometrial carcinomas.

sporadic matched mutational
Genomic variability within an organism exposes its cell lineage tree.

PMID 16261192 · PMC1274291 · PLoS computational biology · 2005 · 8 claims · 5 setups

Full-text index only

Somatic mutations accumulated during normal development implicitly encode an organism's entire cell lineage tree with very high precision.

robinia arabidopsis randomly genotyping multiplex computer
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

PMID 18949062 · PMC2571945 · Molecular vision · 2008 · 8 claims · 5 setups

Full-text index only

Truncating (nonsense/frameshift) mutations in NHS cause Nance-Horan syndrome by prematurely terminating the protein

genomic nhs-a hek mdck pcr pcr-based western
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups

Full-text index only

GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss

peripheral patients mtdna slc26a4 pcr pcr-based sanger
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

PMID 16968793 · PMC1865081 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 7 setups

Full-text index only

Homozygous StAR missense mutations Val187Met and Arg188Cys cause a novel, milder form of lipoid CAH ('non-classic lipoid CAH') presenting at 2-4 years of age rather than in infancy

blood cos-1 bacteria mitochondria sequencing cell-based recombinant
Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.

PMID 1486847 · PMC1519635 · Environmental health perspectives · 1992 · 8 claims · 3 setups

Full-text index only

Somatic K-ras mutations were found in one-third of lung carcinomas studied, but no N-ras mutations were detected.

lung plasmid pcr-based denaturing
Candidate target genes for loss of heterozygosity on human chromosome 17q21.

PMID 15187990 · PMC2409524 · British journal of cancer · 2004 · 8 claims · 5 setups

Full-text index only

JUP (plakoglobin) is the only identified gene physically located between the D17S746 and D17S846 markers that define the smallest common region of LOH on chromosome 17q21

genomic normal breast p1-phage nucleotide rt-pcr cold
Mutational analysis of the p53 and K-ras genes and allelotype study of the Rb-1 gene for investigating the pathogenesis of combined hapatocellular-cholangiocellular carcinomas.

PMID 8957064 · PMC5921002 · Japanese journal of cancer research : Gann · 1996 · 6 claims · 4 setups

Full-text index only

Both components of combined hepatocellular-cholangiocellular carcinoma share the same genetic and phenotypic character and may arise from the same origin in some cases

formalin-fixed combined pcr-based allelotype immunohistochemistry
Elderly Japanese women with cervical carcinoma show higher proportions of both intermediate-risk human papillomavirus types and p53 mutations.

PMID 10098748 · PMC2362249 · British journal of cancer · 1999 · 8 claims · 3 setups

Full-text index only

HPV DNA was detected in 44 of 46 (96%) cervical carcinomas from elderly women

cervical paraffin-embedded pcr-based pcr-single-strand immunohistochemistry
Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

Full-text index only

Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

genomic frozen skeletal korean direct rt-pcr-based pcr-restriction
Epithelial ovarian cancer: influence of polymorphism at the glutathione S-transferase GSTM1 and GSTT1 loci on p53 expression.

PMID 8956789 · PMC2077203 · British journal of cancer · 1996 · 8 claims · 4 setups

Full-text index only

GSTM1, GSTT1 and CYP2D6 genotype/allele frequencies did not differ significantly between 84 ovarian cancer cases and 325 controls, showing no association with disease susceptibility.

leucocyte paraffin-embedded tumour pcr-amplified pcr-based immunohistochemistry single-strand
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

Full-text index only

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
Expression of p73, a novel protein related to the p53 tumour suppressor p53, and apoptosis in cholangiocellular carcinoma of the liver.

PMID 10362118 · PMC2363034 · British journal of cancer · 1999 · 7 claims · 6 setups

Full-text index only

p73 protein is expressed (nuclear immunostaining) in a substantial subset of cholangiocellular carcinomas

cholangiocellular ccc lysates immunohistochemistry direct western
Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups

Full-text index only

R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity

polarized mdck mdck-cftr patients confocal surface western
Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

PMID 18281252 · PMC2443276 · Carcinogenesis · 2008 · 7 claims · 4 setups

Full-text index only

Cigarette smoking is associated with a higher frequency of somatic mtDNA mutations in buccal cells

buccal subject ttge real-time pcr-based
Novel heteroduplex method using small cytology specimens with a remarkably high success rate for analysing EGFR gene mutations with a significant correlation to gefitinib efficacy in non-small-cell lung cancer.

PMID 17047654 · PMC2360725 · British journal of cancer · 2006 · 7 claims · 5 setups

Full-text index only

LH-MSA enables EGFR mutation analysis using small numbers of cancer cells from cytology specimens with a remarkably high success rate

cytology excised nsclc gefitinib-treated lh-mobility pcr clinical
Genomic and transcriptomic plasticity in treatment-naive ovarian cancer.

PMID 24221193 · PMC3912411 · Genome research · 2014 · 8 claims · 8 setups

Has reproduction · 30

Treatment-naïve epithelial ovarian cancers show extensive intra-tumor heterogeneity of genomic rearrangements, with the most substantial differences occurring between omentum/peritoneum metastases and ovarian tumor sites.

tumor each rna-seq whole-genome targeted pcr-based
Establishment and characterisation of six human biliary tract cancer cell lines.

PMID 12107841 · PMC2376107 · British journal of cancer · 2002 · 8 claims · 8 setups

Full-text index only

Six new human biliary tract cancer cell lines (SNU-245, SNU-308, SNU-478, SNU-869, SNU-1079, SNU-1196) were established and characterised from Korean patients

biliary snu lines microdissected culture fingerprinting pcr-sscp

Experiments

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

Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability.

Genomic variability within an organism exposes its cell lineage tree.

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.

Candidate target genes for loss of heterozygosity on human chromosome 17q21.

Mutational analysis of the p53 and K-ras genes and allelotype study of the Rb-1 gene for investigating the pathogenesis of combined hapatocellular-cholangiocellular carcinomas.

Elderly Japanese women with cervical carcinoma show higher proportions of both intermediate-risk human papillomavirus types and p53 mutations.

Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

Epithelial ovarian cancer: influence of polymorphism at the glutathione S-transferase GSTM1 and GSTT1 loci on p53 expression.

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

Expression of p73, a novel protein related to the p53 tumour suppressor p53, and apoptosis in cholangiocellular carcinoma of the liver.

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

Novel heteroduplex method using small cytology specimens with a remarkably high success rate for analysing EGFR gene mutations with a significant correlation to gefitinib efficacy in non-small-cell lung cancer.

Genomic and transcriptomic plasticity in treatment-naive ovarian cancer.

Establishment and characterisation of six human biliary tract cancer cell lines.