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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Prediction-based approaches to characterize bidirectional promoters in the mammalian genome.
PMID 18366609 · PMC2386062 · BMC genomics · 2008 · 8 claims · 7 setups
The mapping algorithm identified 5,647 candidate bidirectional promoter regions in the mouse genome, similar in number to those previously found in human.
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Resequencing of genes for transforming growth factor beta1 (TGFB1) type 1 and 2 receptors (TGFBR1, TGFBR2), and association analysis of variants with diabetic nephropathy.
PMID 17319955 · PMC1808054 · BMC medical genetics · 2007 · 7 claims · 7 setups
TGFβ1 is a crucial mediator in the pathogenesis of diabetic nephropathy, promoting renal hypertrophy and extracellular matrix accumulation.
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Evaluation of EGR1 as a candidate gene for high myopia.
PMID 18636116 · PMC2464612 · Molecular vision · 2008 · 6 claims · 1 setups
EGR1/ZENK is upregulated to inhibit axial eye growth (STOP signal) and downregulated during axial elongation in animal models of experimentally induced myopia
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Genomic variability associated with the presence of occult hepatitis B virus in HIV co-infected individuals.
PMID 19889143 · PMC3032083 · Journal of viral hepatitis · 2010 · 7 claims · 8 setups
O-HBV-associated mutations in PreS/S/polymerase regions likely contribute to undetectable HBsAg by interfering with serologic detection, altering antigen secretion, and/or decreasing replicative fitness
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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.
PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups
ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable
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Molecular characterization of retinitis pigmentosa in Saudi Arabia.
PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups
The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.
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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
PMID 15774015 · PMC1084245 · BMC genomics · 2005 · 6 claims · 4 setups
Integrated phylogenetic foot printing and transcription factor binding site (TFBS) prediction identified a consensus putative STK11/LKB1 promoter region between nucleotides -1090 and -1472
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Risk of pancreatic cancer in families with Lynch syndrome.
PMID 19861671 · PMC4091624 · JAMA · 2009 · 7 claims · 3 setups
Families with germline MMR gene mutations (Lynch Syndrome) have an 8.6-fold increased risk of pancreatic cancer compared to the general U.S. population.
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Has reproduction · 70
Predicting enhancers in mammalian genomes using supervised hidden Markov models.
PMID 30917778 · PMC6437899 · BMC bioinformatics · 2019 · 8 claims · 8 setups
eHMM predicts enhancers with high precision and recall comparable to state-of-the-art methods and consistently outperforms them in accuracy and resolution
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Has reproduction · 100
Constructing eRNA-mediated gene regulatory networks to explore the genetic basis of muscle and fat-relevant traits in pigs.
PMID 38594607 · PMC11003151 · Genetics, selection, evolution : GSE · 2024 · 8 claims · 8 setups
H3K27ac ChIP-seq and RNA-seq were used to construct eRNA expression profiles across multiple tissues in Enshi Black (ES) and Duroc pigs, revealing tissue-level eRNA regulatory landscapes
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A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups
A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.