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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Has reproduction · 84
Deep transcriptomics reveals cell-specific isoforms of pan-neuronal genes.
PMID 40379625 · PMC12084633 · Nature communications · 2025 · 8 claims · 5 setups
Pan-neuronal genes (expressed in many/all neurons) harbor highly cell-specific splice variants/isoforms restricted to single or few neuron types.
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Alternative splicing and bioinformatic analysis of human U12-type introns.
PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups
The long, evolutionarily conserved polypyrimidine (Py) tract of the JNK2 U2-U12 hybrid intron provides the signal for default inclusion of the downstream alternative exon 6b in non-neuronal cells
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Switches in expression of Plasmodium falciparum var genes correlate with changes in antigenic and cytoadherent phenotypes of infected erythrocytes.
PMID 7606775 · PMC3730239 · Cell · 1995 · 6 claims · 8 setups
Expression of a specific var gene (A4var) correlates with A4 antigenic type and with binding to ICAM-1
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Mice have a transcribed L-threonine aldolase/GLY1 gene, but the human GLY1 gene is a non-processed pseudogene.
PMID 15757516 · PMC555945 · BMC genomics · 2005 · 8 claims · 8 setups
Mouse has a transcribed, 7-exon L-threonine aldolase (GLY1) gene on chromosome 11 encoding a 400-residue protein homologous to bacterial threonine aldolase
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Identification of a novel spliced variant of the SYT gene expressed in normal tissues and in synovial sarcoma.
PMID 11308259 · PMC2363857 · British journal of cancer · 2001 · 8 claims · 8 setups
Two forms of SYT mRNA, N-SYT and a novel form I-SYT, are co-expressed in normal human tissues and in synovial sarcomas
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The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer.
PMID 12381271 · PMC134458 · BMC genetics · 2002 · 7 claims · 8 setups
UNC93A maps within the minimal region of allele loss on 6q27 between D6S264 and D6S149, centromeric to D6S149
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Non-EST based prediction of exon skipping and intron retention events using Pfam information.
PMID 16204458 · PMC1243800 · Nucleic acids research · 2005 · 7 claims · 5 setups
A novel ab initio method predicts exon skipping and intron retention events using only Pfam domain annotation, via a Viterbi-like dynamic programming algorithm applied to the Pfam alignment.
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Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients.
PMID 20017903 · PMC2803168 · BMC medical genetics · 2009 · 6 claims · 5 setups
Only three nucleotide variations in ITGB1BP2 were found among 928 screened subjects, indicating a high degree of conservation of the gene in the populations analyzed
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Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.
PMID 19112530 · PMC2610289 · Molecular vision · 2008 · 8 claims · 5 setups
Two novel heterozygous OPA1 mutations were identified: a splice-site mutation c.985-2A>G in family F1 and a nonsense mutation c.2197C>T (p.R733X) in family F2
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A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.
PMID 18985071 · PMC2721823 · European journal of human genetics : EJHG · 2009 · 7 claims · 8 setups
A novel homozygous frameshift mutation (1732delA) in exon 11 of MMP2 causes MONA in this Turkish family by deleting the terminal (third and fourth) hemopexin domains.
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Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.
PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups
Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls
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Comparative genomic analysis and evolution of the T cell receptor loci in the opossum Monodelphis domestica.
PMID 18312668 · PMC2275272 · BMC genomics · 2008 · 8 claims · 5 setups
The conventional TCR loci (TRA/D, TRB, TRG) in opossum are highly conserved in organization and complexity with those of eutherian mammals.
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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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Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
PMID 11991808 · PMC107843 · BMC genetics · 2002 · 6 claims · 5 setups
The genomic organization of human CCS was characterized, with the 823 bp coding region organized into 8 exons spanning 12798 bp of genomic DNA.
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Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes.
PMID 15809229 · PMC1074396 · Nucleic acids research · 2005 · 8 claims · 6 setups
Comparative gene finding (SGP2) between human and chicken, followed by RT-PCR verification, adds at most ~0.2% new genes to the multi-exonic human gene catalog
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Molecular phylogeny of the antiangiogenic and neurotrophic serpin, pigment epithelium derived factor in vertebrates.
PMID 17020603 · PMC1609119 · BMC genomics · 2006 · 8 claims · 8 setups
A single PEDF gene is present in all examined vertebrate species but is absent from invertebrates (D. melanogaster, C. elegans, C. intestinalis)
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GENCODE: producing a reference annotation for ENCODE.
PMID 16925838 · PMC1810553 · Genome biology · 2006 · 8 claims · 8 setups
GENCODE annotation combines initial manual annotation by HAVANA, experimental validation, and refinement based on results to identify protein-coding genes in ENCODE regions
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Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1).
PMID 19133980 · PMC4303606 · British journal of haematology · 2009 · 7 claims · 6 setups
Downregulation of GR mRNA in the resistant myeloma cell line is caused by a block to transcriptional elongation within intron B of the GR gene
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Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.
PMID 17134502 · PMC1684248 · BMC medical genetics · 2006 · 8 claims · 8 setups
An intragenic deletion of 3,059 bp within the PITX2 gene, spanning the end of exon 5 through the start of exon 6, causes this family's severe ARS phenotype
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Intronic alternative splicing regulators identified by comparative genomics in nematodes.
PMID 16839192 · PMC1500816 · PLoS computational biology · 2006 · 8 claims · 6 setups
Conserved intronic elements flanking alternative exons occur more often than expected from total intron sequence, consistent with selective pressure for splicing regulation