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: cohort ✕ Assay: microsatellite ✕ Clear

The molecular landscape of ASPM mutations in primary microcephaly.

PMID 19028728 · PMC2658750 · Journal of medical genetics · 2009 · 8 claims · 7 setups

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ASPM mutations are the most common cause of MCPH

consanguineous genomic parents one polymorphic sanger family
Most microsatellite unstable sporadic colorectal carcinomas carry MBD4 mutations.

PMID 11104560 · PMC2363466 · British journal of cancer · 2000 · 8 claims · 2 setups

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MBD4 mutations occur in 89% (17/19) of RER+ sporadic colorectal carcinomas when microdissected tumor sites are analyzed

microdissected frozen pcr comparison
Allelotype of squamous cell carcinoma of the head and neck: fractional allele loss correlates with survival.

PMID 7577465 · PMC2033926 · British journal of cancer · 1995 · 7 claims · 4 setups

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Allelic imbalance/LOH occurs most frequently on chromosome arms 3p, 9p, 17p and 18q (>45% LOH) in SCCHN

scchn subset microsatellite fractional survival
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
A role for the p53 pathway in the pathology of meningiomas with NF2 loss.

PMID 18974932 · PMC2692701 · Journal of neuro-oncology · 2009 · 7 claims · 4 setups

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The Pro72 allele of p53 codon 72 was not selected for in the meningioma cohort, and its distribution did not differ from control populations, indicating no role in meningioma initiation.

sporadic meningioma loss pcr-rflp histopathological
Identification of novel prognostic markers in cervical intraepithelial neoplasia using LDMAS (LOH Data Management and Analysis Software).

PMID 15673474 · PMC548130 · BMC bioinformatics · 2005 · 8 claims · 3 setups

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LDMAS software integrates LOH molecular data with clinico-pathological data for prognostic marker discovery

archival records combined loh medical statistical
MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.

PMID 15528791 · PMC3839337 · Disease markers · 2004 · 8 claims · 5 setups

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MSI (or immunohistochemistry) testing applied to a pre-selected patient with a family history or early-onset colorectal cancer can distinguish HNPCC from unknown non-HNPCC colorectal cancer syndromes.

population-based swedish colorectal hnpcc clinical histopathological microsatellite
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

PMID 18234697 · PMC2577762 · Brain : a journal of neurology · 2008 · 8 claims · 7 setups

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Five different pathogenic GRN mutations (frameshift/premature termination) were identified in 25 affected members of a large UK FTLD cohort, with no whole-gene deletions detected

ftld grn genomic post-mortem clinical volumetric direct
A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

PMID 18197425 · PMC2259258 · Pediatric nephrology (Berlin, Germany) · 2008 · 8 claims · 7 setups

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Genome-wide linkage analysis identifies several novel loci for primary VUR on chromosomes 1, 3, 4, and 22, supporting genetic heterogeneity.

patients multiplex index pedigree genome-wide fine-mapping haplotype
Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study.

PMID 16356174 · PMC1334229 · BMC cancer · 2005 · 8 claims · 5 setups

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CTNNB1 mutations at phosphorylation sites are rare and of minor importance in sporadic colorectal cancer

archival colorectal formalin-fixed tumour mutation immunohistochemistry microsatellite
Analysis of genetic variability and whole genome linkage of whole-brain, subcortical, and ependymal hyperintense white matter volume.

PMID 19834011 · PMC2787844 · Stroke · 2009 · 8 claims · 5 setups

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Whole-brain, subcortical, and ependymal HWM volumes are all highly heritable

mexican extracted same structural genotyping heritability
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

PMID 16244706 · PMC1262189 · PLoS genetics · 2005 · 7 claims · 5 setups

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Putative pathogenic RMRP mutations are located in highly conserved nucleotides across mammals, whereas polymorphisms are located in non-conserved positions.

genomic rmrp family non-finnish sequencing comparative microsatellite
Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.

PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups

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None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)

genomic case-control nramp1 type sanger snp microsatellite
Low frequency of E-cadherin alterations in familial breast cancer.

PMID 11305955 · PMC30704 · Breast cancer research : BCR · 2001 · 8 claims · 5 setups

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No pathogenic germline E-cadherin mutations were found in 19 familial breast cancer patients whose tumours showed LOH at the E-cadherin locus

blood same tumour pcr-sscp denaturing somatic
The promise of biomarkers in colorectal cancer detection.

PMID 15322316 · PMC3839323 · Disease markers · 2004 · 8 claims · 8 setups

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A panel/combination of biomarkers is likely to provide better predictive value for early CRC detection than any single biomarker.

stool specimens serum multi-target afb1-n7-guanine mutation
Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4.

PMID 15842729 · PMC1097726 · BMC genomics · 2005 · 7 claims · 4 setups

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The ancestral haplotype AH 18.2 (DR3-TNFa1b5) confers significantly increased T1D risk compared to other DR3-positive haplotypes in the Spanish population.

blood same genotype hla microsatellite haplotype
Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups

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A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals

consanguineous same affected family sanger multiplex microsatellite
Mutations in the ST7/RAY1/HELG locus rarely occur in primary colorectal, gastric, and hepatocellular carcinomas.

PMID 12799635 · PMC2741100 · British journal of cancer · 2003 · 7 claims · 4 setups

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ST7 gene mutations are rare in primary colorectal, gastric, and hepatocellular carcinomas

colorectal pcr same clinicopathological pcr-single-strand direct microsatellite
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

Full-text index only

-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

Experiments

The molecular landscape of ASPM mutations in primary microcephaly.

Most microsatellite unstable sporadic colorectal carcinomas carry MBD4 mutations.

Allelotype of squamous cell carcinoma of the head and neck: fractional allele loss correlates with survival.

Numbers of mutations to different types of colorectal cancer.

A role for the p53 pathway in the pathology of meningiomas with NF2 loss.

Identification of novel prognostic markers in cervical intraepithelial neoplasia using LDMAS (LOH Data Management and Analysis Software).

MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

Mutations in APC, CTNNB1 and K-ras genes and expression of hMLH1 in sporadic colorectal carcinomas from the Netherlands Cohort Study.

Analysis of genetic variability and whole genome linkage of whole-brain, subcortical, and ependymal hyperintense white matter volume.

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.

Low frequency of E-cadherin alterations in familial breast cancer.

The promise of biomarkers in colorectal cancer detection.

Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4.

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

Mutations in the ST7/RAY1/HELG locus rarely occur in primary colorectal, gastric, and hepatocellular carcinomas.

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.