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 25

System / cell line: mutation ✕ Assay: allele-specific ✕ Clear

Target cell APOBEC3C can induce limited G-to-A mutation in HIV-1.

PMID 17967058 · PMC2042017 · PLoS pathogens · 2007 · 8 claims · 8 setups

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APOBEC3C is necessary and sufficient to induce G-to-A mutation in some HIV-1 strains despite Vif expression

magi pbmc 293t supt1 sensitive rt-pcr western
Numbers of mutations to different types of colorectal cancer.

PMID 16202134 · PMC1266026 · BMC cancer · 2005 · 8 claims · 5 setups

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Different biologic subtypes of colorectal cancer require different numbers of oncogenic mutations before transformation

colorectal germline finnish seer microsatellite germline bayesian
Mutation analysis in primary immunodeficiency diseases: case studies.

PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups

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Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results

mother parents ebv-transformed nemo genomic flow northern
The detection of K-ras mutations in colorectal cancer using the amplification-refractory mutation system.

PMID 9579832 · PMC2150152 · British journal of cancer · 1998 · 5 claims · 6 setups

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ARMS reliably detects K-ras codon 12/13 mutations in archival CRC DNA samples even when mutant sequence is under-represented relative to wild-type

archival tumour tumour-derived haematoxylin arms direct pcr
The CHEK2(*)1100delC mutation has no major contribution in oesophageal carcinogenesis.

PMID 14970869 · PMC2410163 · British journal of cancer · 2004 · 7 claims · 7 setups

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CHEK2*1100delC has no major contribution in oesophageal carcinogenesis

oesophageal barrett's dysplastic dutch allele-specific polymorphic immunohistochemistry
Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.

PMID 19861964 · PMC2778539 · British journal of cancer · 2009 · 7 claims · 8 setups

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BRAF mutations can be detected in serum cfDNA of advanced melanoma patients using an ARMS allele-specific PCR assay

serum-derived tumour serum ht29 arms sanger topo
Differential diagnosis between chronic pancreatitis and pancreatic cancer: value of the detection of KRAS2 mutations in circulating DNA.

PMID 12189555 · PMC2376157 · British journal of cancer · 2002 · 8 claims · 4 setups

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KRAS2 mutations are significantly more frequent in serum DNA of pancreatic cancer patients than chronic pancreatitis controls

serum serum-extracted allele-specific fluorimetric immunoassay
Role of FGFR3 in urothelial cell carcinoma: biomarker and potential therapeutic target.

PMID 17912529 · PMC4876910 · World journal of urology · 2007 · 8 claims · 8 setups

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Activating FGFR3 mutations occur frequently in bladder cancer and are strongly associated with low tumour grade and stage

bladder normal urothelial mutation allele-specific laser
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

PMID 18697827 · PMC3711528 · Journal of medical genetics · 2008 · 8 claims · 8 setups

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Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.

genomic family carrier jarid1c dhplc allele-specific restriction
Detection of mutations in EGFR in circulating lung-cancer cells.

PMID 18596266 · PMC3551471 · The New England journal of medicine · 2008 · 8 claims · 7 setups

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The CTC-chip microfluidic device isolates CTCs from NSCLC patients in sufficient quantity and purity to permit EGFR mutational analysis

blood archived nsclc plasma microfluidic allele-specific standard
Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.

PMID 19826477 · PMC2757721 · PloS one · 2009 · 8 claims · 8 setups

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Homozygous mutations of oncogenes are frequent (20%) across 833 cancer cell lines of 12 tumor types in the Sanger database

tumors cancer tumor lung direct database quantitative
A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.

PMID 17233897 · PMC1784098 · BMC cancer · 2007 · 5 claims · 3 setups

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A novel BRCA1 nonsense mutation, E1373X, in exon 12 was identified in a Palestinian Arab family with breast and ovarian cancer.

leukocyte pcr genomic dhplc direct allele-specific
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

PMID 19753312 · PMC2742639 · Molecular vision · 2009 · 7 claims · 4 setups

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Mutations responsible for over 30% of LCA cases in northern America were found in only 2.6% of LCA cases in a southern Indian cohort.

unrelated lca genomic allele-specific bidirectional electroretinogram
Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

PMID 19649643 · PMC3104467 · Acta neuropathologica · 2010 · 8 claims · 8 setups

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GRN transcript haploinsufficiency, previously shown in blood-derived cells, does not hold in most brain regions of GRN mutation carriers

peripheral postmortem hek293 qrt-pcr microarray rt-pcr
Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.

PMID 19096718 · PMC2603445 · Molecular vision · 2008 · 7 claims · 5 setups

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CYP1B1 mutations are implicated in POAG among Iranians, notably in the juvenile-onset form

genomic cyp1b1 poag microarray-based dideoxy sanger
Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling.

PMID 19640284 · PMC2726130 · BMC medical genetics · 2009 · 7 claims · 4 setups

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The retinoblastoma proband carries a novel constitutive RB1 mutation (g.2056C>G) at position -4 of the 5'UTR Kozak consensus sequence, absent in her father and unaffected sisters

genomic proband's pcr rt-pcr multiplex
The EPHA2 gene is associated with cataracts linked to chromosome 1p.

PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups

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A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu

family case-control genome-wide str pcr
Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

PMID 19005564 · PMC2579325 · PloS one · 2008 · 8 claims · 7 setups

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Doublet mutations are significantly more frequent in EGFR (6.0%) and TP53 (2.3%) in human lung cancer than spontaneous doublets in mouse lacI (0.7%), about 8-fold and 3-fold higher respectively.

egfr tp53 laci lung literature comparative statistical
Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

PMID 18433509 · PMC2386495 · BMC medicine · 2008 · 8 claims · 8 setups

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A combination of mutation-screening techniques (PTT, SSCP/HD, D-HPLC, sequencing, MLPA, mosaicism analysis, expression analysis) achieved a 100% mutation detection frequency in classical FAP

peripheral genomic cdna truncation sscp d-hplc
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups

Has reproduction

HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition

cos-7 transiently patients parental ras co-immunoprecipitation immunoblotting

Experiments

Target cell APOBEC3C can induce limited G-to-A mutation in HIV-1.

Numbers of mutations to different types of colorectal cancer.

Mutation analysis in primary immunodeficiency diseases: case studies.

The detection of K-ras mutations in colorectal cancer using the amplification-refractory mutation system.

The CHEK2(*)1100delC mutation has no major contribution in oesophageal carcinogenesis.

Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.

Differential diagnosis between chronic pancreatitis and pancreatic cancer: value of the detection of KRAS2 mutations in circulating DNA.

Role of FGFR3 in urothelial cell carcinoma: biomarker and potential therapeutic target.

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

Detection of mutations in EGFR in circulating lung-cancer cells.

Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells.

A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.

Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling.

The EPHA2 gene is associated with cataracts linked to chromosome 1p.

Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.