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 84

System / cell line: mutation ✕ Assay: deletion ✕ Clear

Incidence of mutation and deletion in topoisomerase II alpha mRNA of etoposide and mAMSA-resistant cell lines.

PMID 11676865 · PMC5926608 · Japanese journal of cancer research : Gann · 2001 · 7 claims · 6 setups

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Acquired mutations of the topoisomerase IIα gene are an important and frequent mechanism of resistance to topoisomerase II inhibitors, independent of the degree of resistance.

parental lines t47d-vp1 mcf7-vp8 rnase cdna cytotoxicity
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
Role of p16/MTS1, cyclin D1 and RB in primary oral cancer and oral cancer cell lines.

PMID 10389982 · PMC2363027 · British journal of cancer · 1999 · 7 claims · 5 setups

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p16/MTS1 mutations and loss of expression are very common in OSCC cell lines and less frequent in primary OSCC tumours

oscc same frozen pcr western extraction
Helicobacter pylori: after the genomes, back to biology.

PMID 12668641 · PMC2193897 · The Journal of experimental medicine · 2003 · 8 claims · 5 setups

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STM screening of 960 H. pylori mutants in gerbils identifies genes required for in vivo colonization

helicobacter diffuse signature-tagged genome yeast
Mutational analyses of multiple target genes in histologically heterogeneous gastric cancer with microsatellite instability.

PMID 10081489 · PMC5921733 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 5 setups

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MSI frequency in gastric cancers with histological heterogeneity was 35% (7/20 cases) and 28% (11/40 tumor DNAs), consistent with prior gastric cancer MSI studies.

formalin-fixed msi-positive surgically microsatellite pcr-sscp histopathological
Molecular tumor profiling: translating genomic insights into clinical advances.

PMID 15287965 · PMC507868 · Genome biology · 2004 · 8 claims · 8 setups

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Gene-expression profiling can distinguish BRCA1- and BRCA2-linked breast tumors from sporadic breast tumors with similar hormone-receptor status

breast ovarian panel tumor gene-expression candidate-gene large-scale
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

PMID 17033964 · PMC1698567 · American journal of human genetics · 2006 · 7 claims · 4 setups

Has reproduction · 75

Heterozygous de novo point mutations in HCCS (missense p.R217C and nonsense p.R197X) cause X-linked dominant MLS in females with normal karyotypes

patients family saccharomyces cho-k1 mutation deletion yeast
Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

PMID 19967551 · PMC7370861 · Journal of clinical immunology · 2010 · 8 claims · 8 setups

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Three unrelated Argentinean HLH patients carry an identical novel homozygous 4-bp deletion (c.581_584delTGCC; p.Leu194ProfsX2) in STX11

genomic peripheral blood fresh direct snp rt-pcr
Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups

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Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R

genomic taiwanese dhplc pcr sanger
Large genomic rearrangements in the CFTR gene contribute to CBAVD.

PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups

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Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening

genomic pcr cftr semi-quantitative junction direct
Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.

PMID 8879195 · PMC2192830 · The Journal of experimental medicine · 1996 · 6 claims · 8 setups

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The patient is a compound heterozygote for a p67-phox gene mutation: an in-frame deletion of lysine 58 on one allele and an 11-13 kb genomic deletion on the other allele.

granulocytes granulocyte mononuclear leukocyte nbt cell-free western
BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups

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BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing

peripheral blood-derived folliculin chest direct subcloning sequence
Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups

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The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.

genomic proband blood patients pcr long-range combined
1p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas.

PMID 17934521 · PMC2650419 · Oncogene · 2008 · 8 claims · 8 setups

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Total 1p deletion is rare (2%) in astrocytic tumours, whereas partial deletions involving 1p36 are common and increase with malignancy grade (22% in anaplastic astrocytomas, 34% in glioblastomas)

astrocytic glioblastomas array-cgh microsatellite quantitative
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
Longitudinal analysis of early stage sarcopenia in aging rhesus monkeys.

PMID 18983905 · PMC2693938 · Experimental gerontology · 2009 · 8 claims · 6 setups

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mtDNA deletion mutations induce ETS enzyme abnormalities (COXneg/SDHhyp phenotypes) linked to intra-fiber atrophy and fiber loss

rhesus vastus muscle single dual hematoxylin immunohistochemistry
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

PMID 18565236 · PMC2442058 · BMC medical genetics · 2008 · 7 claims · 6 setups

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The combined LD-PCR/DHPLC diagnostic strategy achieved a 100% mutation detection rate across 122 Taiwanese hemophilia A families.

genomic pcr long-distance pcr sanger
Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

PMID 18281252 · PMC2443276 · Carcinogenesis · 2008 · 7 claims · 4 setups

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Cigarette smoking is associated with a higher frequency of somatic mtDNA mutations in buccal cells

buccal subject ttge real-time pcr-based
APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups

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Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.

blood pcr pcr-amplified cdna chemical sequencing single-strand
Mutational analysis of the p53 and K-ras genes and allelotype study of the Rb-1 gene for investigating the pathogenesis of combined hapatocellular-cholangiocellular carcinomas.

PMID 8957064 · PMC5921002 · Japanese journal of cancer research : Gann · 1996 · 6 claims · 4 setups

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Both components of combined hepatocellular-cholangiocellular carcinoma share the same genetic and phenotypic character and may arise from the same origin in some cases

formalin-fixed combined pcr-based allelotype immunohistochemistry

Experiments

Incidence of mutation and deletion in topoisomerase II alpha mRNA of etoposide and mAMSA-resistant cell lines.

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

Role of p16/MTS1, cyclin D1 and RB in primary oral cancer and oral cancer cell lines.

Helicobacter pylori: after the genomes, back to biology.

Mutational analyses of multiple target genes in histologically heterogeneous gastric cancer with microsatellite instability.

Molecular tumor profiling: translating genomic insights into clinical advances.

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.

1p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas.

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

Longitudinal analysis of early stage sarcopenia in aging rhesus monkeys.

Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

Associations between cigarette smoking and mitochondrial DNA abnormalities in buccal cells.

APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

Mutational analysis of the p53 and K-ras genes and allelotype study of the Rb-1 gene for investigating the pathogenesis of combined hapatocellular-cholangiocellular carcinomas.