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: mutations ✕ Assay: fish ✕ Clear

SNPdetector: a software tool for sensitive and accurate SNP detection.

PMID 16261194 · PMC1274293 · PLoS computational biology · 2005 · 7 claims · 7 setups

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SNPdetector, which models human visual inspection of sequencing traces, achieves low false positive and false negative rates in automated SNP and mutation detection

inbred unrelated zebra same pcr manual comparative
Epidermal growth factor receptor structural alterations in gastric cancer.

PMID 18199332 · PMC2244615 · BMC cancer · 2008 · 8 claims · 4 setups

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EGFR structural alterations are rare in gastric carcinoma

gastric genomic direct fluorescence pcr
Characterisation of p53 status at the gene, chromosomal and protein levels in oesophageal adenocarcinoma.

PMID 14583777 · PMC2394414 · British journal of cancer · 2003 · 8 claims · 4 setups

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p53 gene mutations are infrequent in oesophageal adenocarcinoma (9.6%)

formalin-fixed oesophageal evaluable pooled rflp fluorescence immunohistochemistry
Correlations of EGFR mutations and increases in EGFR and HER2 copy number to gefitinib response in a retrospective analysis of lung cancer patients.

PMID 17626639 · PMC1952070 · BMC cancer · 2007 · 7 claims · 4 setups

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EGFR mutations (exon 19 deletions, exon 21 L858R) did not correlate with gefitinib response in this cohort

microdissected formalin-fixed archival clinical pcr fluorescence laser
Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

PMID 15833136 · PMC1097718 · BMC cancer · 2005 · 8 claims · 6 setups

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A 250 Kbp deletion spanning intron 5 to beyond exon 15 of APC was identified in one FAP patient using MLPA, karyotyping, and FISH.

genomic peripheral metaphase dhplc sequencing rt-pcr
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

PMID 16479075 · PMC2733956 · Journal of Korean medical science · 2006 · 7 claims · 5 setups

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NF1 mutations in Korean patients show a wide spectrum distributed across exon 3 to intron 47 with no mutational hot spots

blood-derived lymphocytes blood unrelated genomic rt-pcr microsatellite
PIK3CA alterations in Middle Eastern ovarian cancers.

PMID 19638206 · PMC2724395 · Molecular cancer · 2009 · 8 claims · 7 setups

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PIK3CA gene amplification is frequent in Middle Eastern EOC, found in 54/152 (35.5%) cases

eoc fluorescence pcr step-down
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups

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RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene

peripheral patient-parent genomic crebbp karyotyping bac microsatellite
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

pfm selected point-mutation-negative family dhplc bidirectional multiplex
Genomic activation of the EGFR and HER2-neu genes in a significant proportion of invasive epithelial ovarian cancers.

PMID 18182111 · PMC2266762 · BMC cancer · 2008 · 8 claims · 4 setups

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No somatic mutations were found in the entire tyrosine kinase domain (exons 18-24) of EGFR or HER2-neu in 68 tissue samples from 52 ovarian cancer patients.

invasive ovarian lung dgge immunohistochemistry fluorescence
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups

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DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients

genomic pcr polycystin-1 czech denaturing sanger family
A spectrum of severe familial liver disorders associate with telomerase mutations.

PMID 19936245 · PMC2775683 · PloS one · 2009 · 7 claims · 8 setups

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Heterozygous telomerase loss-of-function mutations associate with, but are not deterministic of, a broad spectrum of hematologic and severe liver abnormalities.

leukocyte leukocytes reconstitution liver sanger flow telomerase
Unique clinicopathologic features characterize ALK-rearranged lung adenocarcinoma in the western population.

PMID 19671850 · PMC2865649 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 6 setups

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20 of 358 (5.6%) lung adenocarcinomas from Western institutions harbored ALK rearrangements

formalin-fixed lung sections poorly fluorescent immunohistochemistry mutational
Pathogenesis of vestibular schwannoma in ring chromosome 22.

PMID 19772601 · PMC2758865 · BMC medical genetics · 2009 · 8 claims · 7 setups

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Tumours in ring chromosome 22 patients arise from the combination of loss of the ring chromosome (first hit) and a pathogenic somatic NF2 mutation on the remaining chromosome 22 (second hit)

peripheral schwann skin-biopsy vestibular karyotyping fish array
Divide and conquer: progress in the molecular stratification of cancer.

PMID 19718393 · PMC2730607 · Yonsei medical journal · 2009 · 8 claims · 8 setups

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Cancers exhibit significant clinical, histopathologic, and molecular heterogeneity between individual patients

breast nsclc colon early-stage immunohistochemistry gene comparative
Differential recruitment of pre-mRNA splicing factors to alternatively spliced transcripts in vivo.

PMID 16231974 · PMC1262628 · PLoS biology · 2005 · 8 claims · 8 setups

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Distinct combinations of pre-mRNA splicing factors are recruited to sites of alternatively spliced transcripts in intact cells, providing the first in vivo evidence for differential splicing factor association.

cos-1 cos-7 tau10-1 rt-pcr quantitative rna-fish
Somatic mutation of epidermal growth factor receptor in a small subset of cutaneous squamous cell carcinoma.

PMID 19812598 · PMC2825112 · The Journal of investigative dermatology · 2010 · 8 claims · 5 setups

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EGFR is activated by somatic mutation in a small subset of cutaneous SCC

archival scc sanger array-based fluorescence
A genome-wide screen for copy number alterations in Aicardi syndrome.

PMID 19760649 · PMC3640635 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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Aicardi syndrome is thought to result from heterozygous defects in an essential X-linked gene, or from a sex-limited autosomal gene defect, due to its occurrence almost exclusively in females and in 47,XXY males.

genomic subject array quantitative fluorescence
Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

PMID 18648522 · PMC2480479 · Molecular vision · 2008 · 8 claims · 4 setups

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A rare CHX10 missense variant (c.728G>A, Gly243Asp) was identified in one PACG patient and absent in 215 controls, and is a possible disease-causing variant

genomic same chx10 pacg pcr case-control cross-species
Programmed genetic instability: a tumor-permissive mechanism for maintaining the evolvability of higher species through methylation-dependent mutation of DNA repair genes in the male germ line.

PMID 18535014 · PMC2464741 · Molecular biology and evolution · 2008 · 8 claims · 7 setups

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Repair genes are numerically less common than apoptosis genes in the genomes of multicellular organisms

yeast familial human-mouse comparative gene mutation

Experiments

SNPdetector: a software tool for sensitive and accurate SNP detection.

Epidermal growth factor receptor structural alterations in gastric cancer.

Characterisation of p53 status at the gene, chromosomal and protein levels in oesophageal adenocarcinoma.

Correlations of EGFR mutations and increases in EGFR and HER2 copy number to gefitinib response in a retrospective analysis of lung cancer patients.

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

PIK3CA alterations in Middle Eastern ovarian cancers.

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Genomic activation of the EGFR and HER2-neu genes in a significant proportion of invasive epithelial ovarian cancers.

New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

A spectrum of severe familial liver disorders associate with telomerase mutations.

Unique clinicopathologic features characterize ALK-rearranged lung adenocarcinoma in the western population.

Pathogenesis of vestibular schwannoma in ring chromosome 22.

Divide and conquer: progress in the molecular stratification of cancer.

Differential recruitment of pre-mRNA splicing factors to alternatively spliced transcripts in vivo.

Somatic mutation of epidermal growth factor receptor in a small subset of cutaneous squamous cell carcinoma.

A genome-wide screen for copy number alterations in Aicardi syndrome.

Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

Programmed genetic instability: a tumor-permissive mechanism for maintaining the evolvability of higher species through methylation-dependent mutation of DNA repair genes in the male germ line.