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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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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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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Has reproduction · 100
Integrative transcriptome sequencing identifies trans-splicing events with important roles in human embryonic stem cell pluripotency.
PMID 24131564 · PMC3875859 · Genome research · 2014 · 8 claims · 8 setups
TSscan, a computational pipeline integrating long- and short-read transcriptome sequencing from multiple hESC lines, can detect trans-splicing while minimizing false positives from experimental artifacts and genetic rearrangements.
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Analysis of TSG101 tumour susceptibility gene transcripts in cervical and endometrial cancers.
PMID 10027311 · PMC2362423 · British journal of cancer · 1999 · 6 claims · 5 setups
Abnormal (aberrant) TSG101 transcripts are common in both cancerous and non-cancerous cervical/endometrial tissue as well as in normal peripheral mononuclear cells
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Has reproduction · 94
BaRTv2: a highly resolved barley reference transcriptome for accurate transcript-specific RNA-seq quantification.
PMID 35704392 · PMC9546494 · The Plant journal : for cell and molecular biology · 2022 · 8 claims · 6 setups
BaRTv2.18 is the most comprehensive and resolved reference transcriptome in barley to date, containing 39,434 genes and 148,260 transcripts
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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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An original SERPINA3 gene cluster: elucidation of genomic organization and gene expression in the Bos taurus 21q24 region.
PMID 18384666 · PMC2373789 · BMC genomics · 2008 · 8 claims · 7 setups
The bovine genome contains a cluster of eight SERPINA3 genes and one pseudogene (SERPINA3P) sharing high sequence identity and identical structural organization
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Bone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation.
PMID 18947387 · PMC2579299 · Molecular cancer · 2008 · 8 claims · 8 setups
A novel t(2;11)(q11.2;p15.1) translocation was identified as the sole cytogenetic abnormality in a childhood T-ALL case
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Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
PMID 19744353 · PMC2749023 · BMC medical genetics · 2009 · 8 claims · 6 setups
Gross mutations (exon deletions and intragenic insertions) are a frequent, not rare, cause of AOA2
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Has reproduction · 50
Vascular adhesion protein-1 defines a unique subpopulation of human hematopoietic stem cells and regulates their proliferation.
PMID 34719737 · PMC8629906 · Cellular and molecular life sciences : CMLS · 2021 · 7 claims · 8 setups
VAP-1 is expressed on a subset of human HSC and on bone marrow vasculature, forming a hematogenic niche.
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Germline truncating mutations in both MSH2 and BRCA2 in a single kindred.
PMID 14735197 · PMC2409581 · British journal of cancer · 2004 · 8 claims · 8 setups
Kindred MON1080 carries germline truncating mutations in both MSH2 and BRCA2, with two family members being double heterozygotes
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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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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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Has reproduction · 59
Identification of herpesvirus transcripts from genomic regions around the replication origins.
PMID 37773348 · PMC10541914 · Scientific reports · 2023 · 8 claims · 8 setups
Herpesviruses display distinct patterns of transcriptional overlaps near or at the replication origins (Oris)
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Has reproduction · 50
The HCV Envelope Glycoprotein Down-Modulates NF-κB Signalling and Associates With Stimulation of the Host Endoplasmic Reticulum Stress Pathway.
PMID 35371105 · PMC8964954 · Frontiers in immunology · 2022 · 8 claims · 8 setups
HCV E1E2 glycoproteins, and more so E2, down-modulate HIV-1 LTR activation in 293T, TZM-bl and Huh7 cells
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Comparative genomics comes of age.
PMID 12186641 · PMC139393 · Genome biology · 2002 · 8 claims · 8 setups
Only about 50% of conserved sequence elements (exons+introns) in orthologous human-mouse genes correspond to exons, implying substantial non-exonic conservation
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Genome-wide location analysis and expression studies reveal a role for p110 CUX1 in the activation of DNA replication genes.
PMID 18003658 · PMC2248751 · Nucleic acids research · 2008 · 8 claims · 8 setups
p110 CUX1 is recruited to promoters of cell cycle-related target genes preferentially during S phase
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High resolution analysis of the human transcriptome: detection of extensive alternative splicing independent of transcriptional activity.
PMID 19804644 · PMC2768739 · BMC genetics · 2009 · 8 claims · 6 setups
The human GWSA uses exon body and exon-exon junction probes to directly measure over 280,000 known and predicted splicing events genome-wide.
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HIV-1 sequence evolution in vivo after superinfection with three viral strains.
PMID 17716368 · PMC2020475 · Retrovirology · 2007 · 8 claims · 8 setups
gag and env-V3 nucleotide evolution follows a similar pattern in all three strains: low substitution rate in the first 2-3 years of infection, then an increase driven mainly by synonymous substitutions
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Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass.
PMID 18443592 · PMC2742198 · Nature genetics · 2008 · 8 claims · 8 setups
Osteoglycin (Ogn) is a major candidate regulator of rat LVM, with increased Ogn protein expression associated with elevated LVM