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).
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Detection of p53 mutations in precancerous gastric tissue.
PMID 14520466 · PMC2394306 · British journal of cancer · 2003 · 8 claims · 6 setups
p53 mutations can be detected in precancerous gastritis and intestinal metaplasia tissue using the restriction site mutation (RSM) assay
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Array-based profiling of reference-independent methylation status (aPRIMES) identifies frequent promoter methylation and consecutive downregulation of ZIC2 in pediatric medulloblastoma.
PMID 17344319 · PMC1874664 · Nucleic acids research · 2007 · 7 claims · 7 setups
aPRIMES is a novel array-based method that detects direct (absolute) methylation status of CGIs via competitive hybridization of McrBC-digested (methylated) versus HpaII/BstUI-digested (unmethylated) DNA from the same genome, avoiding reference-tissue and copy-number biases
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Detection of the DCC gene product in normal and malignant colorectal tissues and its relation to a codon 201 mutation.
PMID 9484816 · PMC2149930 · British journal of cancer · 1998 · 6 claims · 5 setups
DCC protein expression is lost in the majority of colorectal tumours while retained in all normal colonic tissue
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Thirty years into the genomics era: tumor viruses led the way.
PMID 17940630 · PMC1994808 · The Yale journal of biology and medicine · 2006 · 8 claims · 8 setups
Restriction endonuclease-based analysis and sequencing of small tumor virus genomes (SV40, phiX174) established the technical framework later used to sequence bacterial and human genomes
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A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
PMID 16642557 · PMC2687637 · Yonsei medical journal · 2006 · 8 claims · 6 setups
A heterozygous E297K mutation (GAG→AAG, exon 4) of the CaSR gene was identified in a Korean family with FBHH.
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Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.
PMID 16404428 · PMC2361126 · British journal of cancer · 2006 · 6 claims · 5 setups
Somatic mtDNA mutations occur in renal cell carcinoma but are infrequent and frequently present at low (below 25%) heteroplasmy levels
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Editing of hnRNP K protein mRNA in colorectal adenocarcinoma and surrounding mucosa.
PMID 16404425 · PMC2361188 · British journal of cancer · 2006 · 7 claims · 8 setups
A G274A base substitution in hnRNP K mRNA is present in colorectal tumours and surrounding mucosa but absent from corresponding genomic DNA, indicating an RNA editing event rather than a germline polymorphism.
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High-throughput molecular analysis in lung cancer: insights into biology and potential clinical applications.
PMID 19648524 · PMC4648268 · The European respiratory journal · 2009 · 8 claims · 8 setups
High-throughput -omics technologies have revolutionised understanding of lung cancer biology and hold promise for personalised management of lung cancer
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Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours.
PMID 10389971 · PMC2363009 · British journal of cancer · 1999 · 6 claims · 5 setups
Microsatellite instability is common in sporadic pancreatic cancer but occurs at a uniformly low rate and is not accompanied by hMLH1/hMSH2 alterations, suggesting it does not drive pancreatic tumorigenesis.
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Rho GTPases in human breast tumours: expression and mutation analyses and correlation with clinical parameters.
PMID 12237774 · PMC2364248 · British journal of cancer · 2002 · 8 claims · 8 setups
RhoA, RhoB, Rac1 and Cdc42 protein levels are markedly overexpressed in breast tumours compared to matched normal tissue from the same patient
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Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).
PMID 15018634 · PMC356914 · BMC medical genetics · 2004 · 6 claims · 7 setups
MRF-SSCP method (using combined restriction digestion plus SSCP with silver staining) was developed to screen PKD1 mutations in full-length cDNA fractionated into nine overlapping nested-PCR segments
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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
PHF2, FANCC and PTCH1 show high frequency of alterations (deletion/methylation) compared to XPA in both early- and late-onset breast carcinoma groups
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MDM2 overexpression with alteration of the p53 protein and gene status in oral carcinogenesis.
PMID 10835493 · PMC5926374 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups
MDM2 and p53 protein expression significantly increase in accordance with histological progression from normal mucosa to dysplasia to SCC.
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X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa.
PMID 14641931 · PMC317313 · BMC pediatrics · 2003 · 7 claims · 5 setups
This is the first fully characterized South African family with X-linked hyper-IgM syndrome (HIGM1)
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X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.
PMID 14966353 · PMC2822247 · Journal of Korean medical science · 2004 · 8 claims · 7 setups
The patient's X-SCID is caused by a C690T point mutation in exon 5 of the γc chain gene, producing an R226C amino acid substitution.
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Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups
A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.
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Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis.
PMID 17456229 · PMC1868706 · BMC medical genetics · 2007 · 7 claims · 4 setups
No mutations were identified in the VEGFR2 gene (exons 7, 18, 21, 27, promoter, or 5' UTR) in ALS patients
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Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
PMID 20057906 · PMC2802294 · Molecular vision · 2009 · 7 claims · 4 setups
Screening of 32 Chinese patients with microphthalmia and/or coloboma across ten candidate genes revealed no clearly causative mutation.
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Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups
A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family
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Mutation of the p53 gene precedes aneuploid clonal divergence in colorectal carcinoma.
PMID 7841032 · PMC2033599 · British journal of cancer · 1995 · 7 claims · 5 setups
p53 mutation occurs as a single clonal event that precedes and may facilitate aneuploid clonal divergence in colorectal carcinoma