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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Evolutionarily conserved and diverged alternative splicing events show different expression and functional profiles.
PMID 16195578 · PMC1240112 · Nucleic acids research · 2005 · 8 claims · 5 setups
Alternative splices in 10,818 human-mouse gene pairs can be classified as conserved, novel, or diverged based on genomic and transcript-level cross-species comparison.
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Alterations of E-cadherin and beta-catenin in gastric cancer.
PMID 11747475 · PMC60969 · BMC cancer · 2001 · 8 claims · 5 setups
High frequency (75%) of loss of heterozygosity (LOH) at 16q22.1, the E-cadherin locus, occurs in primary gastric tumours
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In vitro identification and in silico utilization of interspecies sequence similarities using GeneChip technology.
PMID 15871745 · PMC1156887 · BMC genomics · 2005 · 7 claims · 6 setups
Only 14±2% of canine transcripts were detected by U133A probe sets versus 49±6% of human transcripts when hybridized to the same chip
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Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.
PMID 18824584 · PMC2571921 · The Journal of experimental medicine · 2008 · 8 claims · 8 setups
Homozygous deleterious PMS2 mutations are associated with a B cell-intrinsic CSR deficiency in three patients
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Early days: genomics and human responses to infection.
PMID 16679048 · PMC7108404 · Current opinion in microbiology · 2006 · 8 claims · 8 setups
DNA microarray-based transcript profiling of primate/human responses to infection has begun to yield new insights into host-pathogen interactions but is limited by unresolved methodological challenges.
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Has reproduction · 57
Genome-wide kinetic properties of transcriptional bursting in mouse embryonic stem cells.
PMID 32596448 · PMC7299619 · Science advances · 2020 · 8 claims · 8 setups
Genome-wide transcriptional bursting kinetics (intrinsic noise, burst size, frequency) can be estimated from allele-specific scRNA-seq of hybrid mESCs
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Has reproduction · 76
Daily temperature cycles promote alternative splicing of RNAs encoding SR45a, a splicing regulator in maize.
PMID 33705553 · PMC8195531 · Plant physiology · 2021 · 8 claims · 4 setups
Increasing maximum daily temperature (MDT) globally elevates the frequency of alternative splicing in maize, particularly intron retention and exon skipping.
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Molecular variants of the ATM gene in Hodgkin's disease in children.
PMID 14735203 · PMC2409549 · British journal of cancer · 2004 · 8 claims · 4 setups
Missense variants of the ATM gene occur in childhood Hodgkin lymphoma but at low frequency (9%), and thus do not play a major role in oncogenesis of the disease
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ECgene: genome annotation for alternative splicing.
PMID 15608289 · PMC540072 · Nucleic acids research · 2005 · 8 claims · 5 setups
ECgene combines genome-based EST clustering with a graph-theoretic transcript assembly procedure to predict gene models including alternative splicing events.
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Has reproduction · 81
Transcriptional regulation and chromatin architecture maintenance are decoupled functions at the Sox2 locus.
PMID 35710138 · PMC9296009 · Genes & development · 2022 · 8 claims · 7 setups
Sox2 transcriptional activation is traced almost entirely to two key transcription factor-bound regions (SRR107 and SRR111) within the SCR
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A well-conserved Plasmodium falciparum var gene shows an unusual stage-specific transcript pattern.
PMID 12787360 · PMC2869446 · Molecular microbiology · 2003 · 8 claims · 8 setups
Full-length var transcripts (detected by the complex var exon 2 probe) are present only in ring stages, not in pigmented trophozoites, across multiple parasite lines
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An intergenic non-coding rRNA correlated with expression of the rRNA and frequency of an rRNA single nucleotide polymorphism in lung cancer cells.
PMID 19838300 · PMC2759515 · PloS one · 2009 · 8 claims · 7 setups
An nc-rRNA is transcribed from the intergenic spacer upstream of the rRNA transcription start site in human lung epithelial and lung cancer cells, spanning roughly -1000 to at least +203/+300.
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Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.
PMID 16595073 · PMC3500178 · Human genomics · 2006 · 7 claims · 5 setups
A bioinformatics strategy cross-referencing carcinogenesis-related gene lists with breast-tissue expression data can identify candidate breast cancer risk nsSNPs.
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In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
PMID 17726045 · PMC2094079 · Nucleic acids research · 2007 · 8 claims · 6 setups
Two exonic mutations, PINK1 E417G and PARK7 E64D, disrupt binding to U1 snRNA and cause skipping of the mutation-harboring exon
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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups
Mutations in GLE1, an mRNA export mediator, cause LCCS1
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Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.
PMID 10098735 · PMC2362253 · British journal of cancer · 1999 · 7 claims · 6 setups
The FAA gene is not the gene targeted by LOH at 16q24.3 in breast cancer
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Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
PMID 18036263 · PMC2246181 · Breast cancer research : BCR · 2007 · 8 claims · 8 setups
Revised multifactorial likelihood analysis incorporating ER, CK5/6, and CK14 tumor immunohistochemistry improves classification of BRCA1 unclassified variants
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Nutrigenetic association of the 5-lipoxygenase gene with myocardial infarction.
PMID 18842779 · PMC3014055 · The American journal of clinical nutrition · 2008 · 8 claims · 4 setups
A significant gene x diet interaction exists between 5-LO promoter short alleles (3,4 repeats) and dietary AA intake in determining MI risk
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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
Three unrelated Argentinean HLH patients carry an identical novel homozygous 4-bp deletion (c.581_584delTGCC; p.Leu194ProfsX2) in STX11
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Investigating the genetic association between ERAP1 and ankylosing spondylitis.
PMID 19692350 · PMC2758148 · Human molecular genetics · 2009 · 8 claims · 8 setups
The genetic association between ERAP1 and AS is confirmed in an independent replication cohort