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 105

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

Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.

PMID 10427478 · PMC3851081 · Disease markers · 1998 · 8 claims · 6 setups

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E237G shows no significant association with atopy or asthma in the Swiss population (3.7% in patients vs 2.6% in controls)

genomic extracted cdna patients pcr rt-pcr restriction
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

PMID 17517145 · PMC1890544 · BMC medical genetics · 2007 · 7 claims · 6 setups

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A novel heterozygous missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in affected family members but not in 100 controls (200 chromosomes)

family genomic 10-member wfs1 pure direct pcr-rflp
Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.

PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups

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Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls

genomic pcr patients dhplc cloning pcr-rflp
Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

PMID 17029639 · PMC1624846 · BMC cancer · 2006 · 6 claims · 4 setups

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Coding sequences and intron-exon boundaries of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 were screened in 94 familial CRC cases with known genes excluded

genomic predicted archival mutation targeted functional
Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups

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OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.

genomic ghanaian pcr taqman logistic
Analysis of copy number variation using quantitative interspecies competitive PCR.

PMID 18697816 · PMC2553599 · Nucleic acids research · 2008 · 7 claims · 6 setups

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qicPCR uses the entire genome of a single chimpanzee as a competitor, requiring only one reference sample for all assays and enabling large-scale multiplexing

genomic single 22q11ds qicpcr-derived qicpcr mlpa fluorescence
A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

PMID 19649163 · PMC2718742 · Molecular vision · 2009 · 7 claims · 7 setups

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A novel heterozygous UBIAD1 mutation, G98S, was identified in two affected members (proband and her father) of a Chinese SCCD family.

genomic cornea corneas blood direct pcr laser
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).

PMID 15890066 · PMC1142516 · BMC medical genetics · 2005 · 7 claims · 3 setups

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Screening of the PITX2 coding region and exon-intron junctions in 96 dTGA patients revealed no stop or frameshift mutations.

genomic pcr denaturing direct
The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.

PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups

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No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls

genomic pcr genotype pcr-based direct pcr
Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.

PMID 26538066 · PMC4634735 · BMC medical genomics · 2015 · 8 claims · 5 setups

Has reproduction · 83

A multigene peripheral-blood gene-expression biomarker accurately classifies which women from high-risk families develop familial breast cancer.

peripheral pbmcs blood normal gene-expression lymphocyte gene
Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene.

PMID 11953843 · PMC2364178 · British journal of cancer · 2002 · 7 claims · 5 setups

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Heterozygosity for the IVS14+1G>A DPYD splice-site mutation is associated with markedly reduced 5-FU clearance and severe 5-FU toxicity in the index patient.

plasma peripheral pbm genomic reversed-phase pharmacokinetic dpd
Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

PMID 17134502 · PMC1684248 · BMC medical genetics · 2006 · 8 claims · 8 setups

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An intragenic deletion of 3,059 bp within the PITX2 gene, spanning the end of exon 5 through the start of exon 6, causes this family's severe ARS phenotype

genomic lymphoblastoid i-2 patients pcr quantitative long-range
JAK2 V617F: a single mutation in the myeloproliferative group of disorders.

PMID 16755940 · PMC1891745 · The Ulster medical journal · 2006 · 8 claims · 8 setups

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A single acquired JAK2 mutation (V617F, G1849T in exon 14) is found across polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis

blood haematopoietic granulocytes mpd pcr-direct sirna microsatellite
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.

PMID 17686168 · PMC1995191 · BMC medical genetics · 2007 · 7 claims · 5 setups

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A novel mutation c.49C>T (p.Pro17Ser) in exon 1 of DSPP causes type II DGI in this Chinese family.

family genomic affected linkage direct pcr
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

PMID 17437275 · PMC2696796 · Human mutation · 2007 · 7 claims · 5 setups

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Four novel pathogenic ZEB1 mutations (two deletions, one nonsense, one duplication, all in exon 7) were identified in four of ten unrelated Czech/British PPCD families

peripheral genomic six individuals sequencing pcr microsatellite
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

PMID 17125505 · PMC1684249 · BMC medical genetics · 2006 · 6 claims · 3 setups

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A nonsense mutation c.1072C>T (p.Arg358X) in exon 12 of EDAR was identified in affected individuals from both Swedish families and is disease-specific

genomic patients dhplc pcr clinical
CHEK2 variants associate with hereditary prostate cancer.

PMID 14612911 · PMC2394451 · British journal of cancer · 2003 · 8 claims · 6 setups

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CHEK2 1100delC frameshift mutation is significantly more frequent in Finnish HPC patients than in population controls

index hpc unselected affected sscp sequencing minisequencing
Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene.

PMID 12877753 · PMC184376 · BMC neurology · 2003 · 8 claims · 5 setups

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A novel frameshift mutation (1902A insertion) in exon 17 of the Krit1 gene creates a premature TAA stop codon, predicting a truncated Y634X protein.

patients genomic mri sscp sanger
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

PMID 17554261 · PMC2628541 · Nature genetics · 2007 · 8 claims · 8 setups

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IRGM SNPs (rs13361189, rs4958847) show strong replicated association with Crohn disease; IRGM induces autophagy and control of intracellular bacteria

wtccc replication population cases genome-wide taqman snp
A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups

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A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.

blood-derived patient-derived serum genomic direct rt-pcr gelatin

Experiments

Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.

Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition.

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

Analysis of copy number variation using quantitative interspecies competitive PCR.

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).

The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.

Gene-expression patterns in peripheral blood classify familial breast cancer susceptibility.

Reduced 5-FU clearance in a patient with low DPD activity due to heterozygosity for a mutant allele of the DPYD gene.

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

JAK2 V617F: a single mutation in the myeloproliferative group of disorders.

A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.

CHEK2 variants associate with hereditary prostate cancer.

Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene.

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.