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 23

System / cell line: exon ✕ Assay: allelic ✕ Clear

The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.

PMID 17519028 · PMC1888683 · BMC psychiatry · 2007 · 6 claims · 4 setups

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The NRG1 exon 11 missense variant (G>T) is not associated with autism in the CVCR.

blood genomic subjects trios taqman microsatellite clinical
TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups

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A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.

brain peripheral sk-nsh-n genomic rt-pcr direct snp
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups

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BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant

lymphocytes brca2 brca2-null ashkenazi rt-pcr splicing allelic
PTEN / MMAC1 mutation and frequent loss of heterozygosity identified in chromosome 10q in a subset of hepatocellular carcinomas.

PMID 10760687 · PMC5926370 · Japanese journal of cancer research : Gann · 2000 · 8 claims · 3 setups

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A subset of HCC tumors show frequent allelic loss (LOH) on chromosome 10q, indicating putative tumor suppressor gene(s) on this arm.

paired pcr loh sscp direct
Targeted KRAS mutation assessment on patient tumor histologic material in real time diagnostics.

PMID 19888477 · PMC2768905 · PloS one · 2009 · 8 claims · 5 setups

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Q-PCR methods yield informative KRAS mutation results even on very fragmented FFPE-DNA where dideoxy-sequencing fails (p<0.0001)

ffpe dideoxy-sequencing taqman-mgb dxs-kras
Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.

PMID 18036208 · PMC2253505 · BMC medical genetics · 2007 · 7 claims · 3 setups

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Improved short, non-overlapping TaqMan MGB probes accurately and simultaneously discriminate the H63D, S65C and C282Y HFE polymorphisms without cross-interference between the closely spaced codon 63/65 SNPs.

genomic real-time rflp sequencing
Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.

PMID 14970870 · PMC3215949 · British journal of cancer · 2004 · 8 claims · 7 setups

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Nuclear β-catenin expression in GEJ adenocarcinoma cell lines correlates with enhanced TCF-mediated reporter gene transcription

gej paired showing tumours tcf pcr-sscp bidirectional
Functional role of the KLF6 tumour suppressor gene in gastric cancer.

PMID 19101139 · PMC2970616 · European journal of cancer (Oxford, England : 1990) · 2009 · 7 claims · 8 setups

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The KLF6 locus undergoes loss of heterozygosity (LOH) in a majority of gastric cancer samples and is associated with advanced tumour stage

gastric ags hs746t fluorescent direct quantitative
Alterations of E-cadherin and beta-catenin in gastric cancer.

PMID 11747475 · PMC60969 · BMC cancer · 2001 · 8 claims · 5 setups

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High frequency (75%) of loss of heterozygosity (LOH) at 16q22.1, the E-cadherin locus, occurs in primary gastric tumours

gastric normal paraffin-embedded loh mutation a592t
Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.

PMID 7669582 · PMC2033876 · British journal of cancer · 1995 · 8 claims · 5 setups

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A novel missense mutation (TGG→CGG, Trp133→Arg) in nm23-H2 was found in one stage III serous ovarian carcinoma

ovarian case matched same pcr-sscp subcloning loh
WAF1/CIP1 structural abnormalities do not contribute to cell cycle deregulation in ovarian cancer.

PMID 8645586 · PMC2074480 · British journal of cancer · 1996 · 7 claims · 5 setups

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No WAF1/CIP1 coding mutations were found in any of 36 ovarian carcinomas sequenced, including tumors with LOH on 6p and those lacking p53 mutations

ovarian blood tumor pcr sequencing loss
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
Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.

PMID 10389976 · PMC2363023 · British journal of cancer · 1999 · 6 claims · 4 setups

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No MEN1 coding-region mutations were detected in any of 23 sporadic pituitary tumours with 11q13 LOH, arguing against MEN1 mutation as the mechanism of tumorigenesis in these cases

sporadic evaluable histologically loh direct rt-pcr
Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.

PMID 15716623 · PMC2808565 · Journal of Korean medical science · 2005 · 8 claims · 8 setups

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CF should be suspected in Korean/Asian children with chronic respiratory symptoms despite its rarity in Asian populations

korean family bronchial quantitative sweat cftr
High throughput detection of M6P/IGF2R intronic hypermethylation and LOH in ovarian cancer.

PMID 16432260 · PMC1345698 · Nucleic acids research · 2006 · 8 claims · 5 setups

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A 96-well high-throughput bisulfite modification (HTBM) method was developed and validated against single-sample bisulfite modification (SSBM), producing comparable methylation results even from as little as 3 ng DNA.

genomic normal advanced bisulfite-treated methylation-specific bisulfite snp
Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

PMID 17477860 · PMC1871603 · BMC genetics · 2007 · 7 claims · 5 setups

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DGAT2 is a plausible positional and functional candidate gene for obesity due to its localization at chr.11q13 (a linkage region) and its key role in triglyceride synthesis

extremely families genome sanger case-control family-based
Distribution and effects of nonsense polymorphisms in human genes.

PMID 18852891 · PMC2561068 · PloS one · 2008 · 8 claims · 8 setups

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Nonsense SNPs occur at a lower density than nonsynonymous SNPs, indicating stronger purifying selection against premature stop codons than amino acid changes.

genome genes nonsense snps genome-wide snp codon
cDNA sequencing improves the detection of P53 missense mutations in colorectal cancer.

PMID 19671129 · PMC2731783 · BMC cancer · 2009 · 8 claims · 6 setups

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cDNA sequencing detects P53 missense mutations in colorectal cancer more frequently and reliably than DNA sequencing

colorectal paired sequencing cdna real-time
Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.

PMID 17945002 · PMC2242669 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups

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-26G>A polymorphism in the BRCA2 5' UTR is functional: the A allele drives roughly twice the reporter gene expression of the G allele in MCF-7 and HeLa cells

mcf-7 hela brca2 peripheral luciferase transcription genotyping
Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma.

PMID 18990233 · PMC2633285 · Molecular cancer · 2008 · 8 claims · 5 setups

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PHF2, FANCC and PTCH1 show high frequency of alterations (deletion/methylation) compared to XPA in both early- and late-onset breast carcinoma groups

invasive breast normal microsatellite methylation sscp

Experiments

The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.

TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

PTEN / MMAC1 mutation and frequent loss of heterozygosity identified in chromosome 10q in a subset of hepatocellular carcinomas.

Targeted KRAS mutation assessment on patient tumor histologic material in real time diagnostics.

Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.

Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.

Functional role of the KLF6 tumour suppressor gene in gastric cancer.

Alterations of E-cadherin and beta-catenin in gastric cancer.

Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.

WAF1/CIP1 structural abnormalities do not contribute to cell cycle deregulation in ovarian cancer.

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

Sequence analysis and transcript expression of the MEN1 gene in sporadic pituitary tumours.

Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.

High throughput detection of M6P/IGF2R intronic hypermethylation and LOH in ovarian cancer.

Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

Distribution and effects of nonsense polymorphisms in human genes.

cDNA sequencing improves the detection of P53 missense mutations in colorectal cancer.

Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.

Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma.