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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Examination of FMR1 transcript and protein levels among 74 premutation carriers.
PMID 19927162 · PMC4122982 · Journal of human genetics · 2010 · 7 claims · 4 setups
FMR1 premutation carriers (55-199 CGG repeats) show increased FMR1 transcript levels alongside decreased FMRP levels compared to normal individuals.
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Association of replication error positive phenotype with lymphocyte infiltration in endometrial cancers.
PMID 9818024 · PMC5921952 · Japanese journal of cancer research : Gann · 1998 · 7 claims · 4 setups
RER+ phenotype (microsatellite instability at ≥2 of 7 loci) occurs in a subset (21-23%) of sporadic endometrioid endometrial adenocarcinomas but not in other histological types or endometrial hyperplasia
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'Genome design' model and multicellular complexity: golden middle.
PMID 17062620 · PMC1635334 · Nucleic acids research · 2006 · 8 claims · 8 setups
Intermediately expressed human genes are the longest genes genome-wide, in both coding and intronic sequence, longer than housekeeping or tissue-specific genes.
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Genomic and epigenetic instability in colorectal cancer pathogenesis.
PMID 18773902 · PMC2866182 · Gastroenterology · 2008 · 8 claims · 7 setups
Genomic instability (CIN or MSI) is a key early molecular step in colorectal tumorigenesis that may initiate rather than merely accompany the adenoma-carcinoma sequence
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Rapid detection of allele loss in colorectal tumours using microsatellites and fluorescent DNA technology.
PMID 8512811 · PMC1968523 · British journal of cancer · 1993 · 6 claims · 3 setups
Fluorescently labelled microsatellite PCR products analysed on an automated DNA sequencer allow rapid, automated quantitation (peak size, height, area) of allele loss, avoiding drawbacks of radioactive RFLP analysis.
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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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Satellog: a database for the identification and prioritization of satellite repeats in disease association studies.
PMID 15949044 · PMC1181805 · BMC bioinformatics · 2005 · 7 claims · 6 setups
Satellog is a database cataloging all pure 1-16 unit satellite repeats in the human genome with supplementary polymorphism, gene-location, and expression data for prioritizing repeats in disease-association studies.
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p53 mutations in urinary bladder cancer.
PMID 11384101 · PMC2363660 · British journal of cancer · 2001 · 6 claims · 5 setups
p53 mutations are strongly associated with high-grade/high-stage bladder tumors and are nearly absent in lowly malignant tumors (Ta, G1-G2a)
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Absence of somatic alterations of the EB1 gene adenomatous polyposis coli-associated protein in human sporadic colorectal cancers.
PMID 9823979 · PMC2063196 · British journal of cancer · 1998 · 6 claims · 4 setups
No somatic point mutations were found in the entire EB1 coding sequence in sporadic colorectal cancers or adenomas
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Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas.
PMID 10027310 · PMC2362430 · British journal of cancer · 1999 · 8 claims · 6 setups
CDX2 expression is decreased in colorectal carcinomas in prior studies
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Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
PMID 16796766 · PMC1523332 · BMC medical genetics · 2006 · 7 claims · 5 setups
All five LDLR deletions are flanked by Alu elements, supporting unequal homologous recombination between Alu repeats as the causative mechanism
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MMASS: an optimized array-based method for assessing CpG island methylation.
PMID 17041235 · PMC1635254 · Nucleic acids research · 2006 · 8 claims · 7 setups
MMASS-v2 (optimized AciI/HinP1I/HpyCH4IV/HpaII enzyme combination with McrBC digestion) offers improved sensitivity and statistical power for microarray-based CpG island methylation detection compared to MMASS-v1, MMASS-sub and the Nouzova method
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A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups
A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family
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Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.
PMID 7669582 · PMC2033876 · British journal of cancer · 1995 · 8 claims · 5 setups
A novel missense mutation (TGG→CGG, Trp133→Arg) in nm23-H2 was found in one stage III serous ovarian carcinoma
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Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis.
PMID 15528790 · PMC3888729 · Disease markers · 2004 · 8 claims · 8 setups
Mononucleotide repeats are more sensitive, specific, and easier to use than dinucleotide repeats for detecting MSI-H tumors
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Evolutionarily conserved human targets of adenosine to inosine RNA editing.
PMID 15731336 · PMC549564 · Nucleic acids research · 2005 · 8 claims · 6 setups
Identified four novel human ADAR editing substrates causing amino acid changes: FLNA, BLCAP, CYFIP2 and IGFBP7
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GeneTide--Terra Incognita Discovery Endeavor: a new transcriptome focused member of the GeneCards/GeneNote suite of databases.
PMID 15608261 · PMC540076 · Nucleic acids research · 2005 · 8 claims · 7 setups
GeneTide integrates UniGene, DoTS, AceView, BLAT/GeneLoc genomic alignment, and GeneAnnot probe-set data into a unified Consensus/Uniqueness/Score scheme to associate ESTs with GeneCards genes
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Brain-specific proteins decline in the cerebrospinal fluid of humans with Huntington disease.
PMID 18984577 · PMC2649809 · Molecular & cellular proteomics : MCP · 2009 · 8 claims · 6 setups
Brain-specific proteins are 1.8 times more likely to be observed in CSF than in plasma
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A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
PMID 18958306 · PMC2573734 · Molecular vision · 2008 · 8 claims · 7 setups
The disease locus maps to chromosome 3q21-25, linked to markers D3S2322 and D3S1541
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ATBF1 and NQO1 as candidate targets for allelic loss at chromosome arm 16q in breast cancer: absence of somatic ATBF1 mutations and no role for the C609T NQO1 polymorphism.
PMID 18416817 · PMC2377272 · BMC cancer · 2008 · 8 claims · 7 setups
Five genes (NQO1, ATBF1, DBNDD1, HSBP1, CGI-38) at 16q show significantly lower mRNA expression in breast tumors with LOH at 16q compared to tumors without LOH