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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Genome-wide analysis of subependymomas shows underlying chromosomal copy number changes involving chromosomes 6, 7, 8 and 14 in a proportion of cases.
PMID 18397339 · PMC2659379 · Brain pathology (Zurich, Switzerland) · 2008 · 8 claims · 2 setups
Whole-genome aCGH reveals chromosomal copy number abnormalities in 5 of 12 (42%) subependymoma cases
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Has reproduction · 88
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
PMID 22821884 · PMC4166655 · American journal of medical genetics. Part A · 2012 · 8 claims · 6 setups
A novel heterozygous HRAS c.266C>G (p.S89C) germline mutation was identified in two siblings with severe fetal hydrops/pleural effusion (Patient 1) and polyhydramnios/Dandy-Walker malformation (Patient 2).
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Has reproduction · 89
A near complete genome for goat genetic and genomic research.
PMID 34507524 · PMC8434745 · Genetics, selection, evolution : GSE · 2021 · 8 claims · 8 setups
Saanen_v1 is a near-complete de novo goat genome assembly generated from 117x PacBio and 118x Hi-C data, including the first goat Y chromosome scaffold
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Has reproduction · 70
The manganese transporter SLC39A8 links alkaline ceramidase 1 to inflammatory bowel disease.
PMID 38839750 · PMC11153611 · Nature communications · 2024 · 8 claims · 8 setups
Intestinal epithelial cell-specific deletion of Slc39a8 causes systemic Mn deficiency in blood and multiple organs
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Has reproduction · 83
A temporal classifier predicts histopathology state and parses acute-chronic phasing in inflammatory bowel disease patients.
PMID 36694043 · PMC9873918 · Communications biology · 2023 · 8 claims · 8 setups
Disease-specific temporal (dynamic) gene expression and splicing signatures, distinct from fixed timepoint differential expression, can be derived from DSS and adoptive transfer colitis models to capture acute-chronic disease dynamics
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Has reproduction · 100
Whole-genome sequencing of cryopreserved resources from French Large White pigs at two distinct sampling times reveals strong signatures of convergent and divergent selection between the dam and sire lines.
PMID 36864379 · PMC9979506 · Genetics, selection, evolution : GSE · 2023 · 6 claims · 8 setups
French LWD and LWS lines have lost approximately 5% of the SNPs that segregated in the 1977 ancestral population.
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Has reproduction · 64
Genetic introgression from commercial European pigs to the indigenous Chinese Lijiang breed and associated changes in phenotypes.
PMID 38566006 · PMC10985947 · Genetics, selection, evolution : GSE · 2024 · 7 claims · 7 setups
Significant genetic introgression from commercial European pigs (EP) into the Lijiang pig (LJP) and other domestic Chinese pig breeds was detected.
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Has reproduction · 63
Comparative Genomics of Borderline Oxacillin-Resistant Staphylococcus aureus Detected during a Pseudo-outbreak of Methicillin-Resistant S. aureus in a Neonatal Intensive Care Unit.
PMID 35038924 · PMC8764539 · mBio · 2022 · 7 claims · 8 setups
Of 42 isolates flagged as MRSA by screening agar, only 9 were PBP2a- and mecA-positive true MRSA, while the remaining 33 were mecA-negative and largely met criteria for BORSA
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Has reproduction · 85
Distinct sympathetic projections to brown fat regulate thermogenesis and glucose tolerance.
PMID 41559445 · PMC12945688 · Nature metabolism · 2026 · 8 claims · 8 setups
Distinct sympathetic neuron subpopulations in the stellate ganglion (SG) innervating iBAT parenchyma versus its vasculature mediate separable functions of the depot.
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WAF1/CIP1 structural abnormalities do not contribute to cell cycle deregulation in ovarian cancer.
PMID 8645586 · PMC2074480 · British journal of cancer · 1996 · 7 claims · 5 setups
No WAF1/CIP1 coding mutations were found in any of 36 ovarian carcinomas sequenced, including tumors with LOH on 6p and those lacking p53 mutations
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Association between telomere length and V(H) gene mutation status in chronic lymphocytic leukaemia: clinical and biological implications.
PMID 12592375 · PMC2377180 · British journal of cancer · 2003 · 7 claims · 5 setups
Unmutated VH gene CLL cases have significantly shorter telomeres than mutated VH gene CLL cases
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MSH6 missense mutations are often associated with no or low cancer susceptibility.
PMID 15354210 · PMC2409912 · British journal of cancer · 2004 · 7 claims · 8 setups
Most MSH6 missense changes found in MSI-positive tumours are likely clinically innocent or of low cancer-susceptibility significance
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Abnormality of the DNA double-strand-break checkpoint/repair genes, ATM, BRCA1 and TP53, in breast cancer is related to tumour grade.
PMID 15138484 · PMC2409464 · British journal of cancer · 2004 · 8 claims · 4 setups
High-grade breast tumours show a high frequency of LOH and/or abnormal expression of ATM, BRCA1 and TP53
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Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
PMID 16361827 · PMC2779314 · Journal of Korean medical science · 2005 · 8 claims · 5 setups
The patient carries a compound heterozygous missense mutation in AQP2: A70D (exon 1, paternal) and R187H (exon 3, maternal)
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Critical care: applying genomics to inflammation outcomes.
PMID 16330338 · PMC1314943 · Environmental health perspectives · 2005 · 8 claims · 6 setups
Genetic factors drive key aspects of an individual's inflammatory outcome after trauma, burns, or sepsis
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Multiplex SNP typing by bioluminometric assay coupled with terminator incorporation (BATI).
PMID 16141191 · PMC1197137 · Nucleic acids research · 2005 · 8 claims · 6 setups
A novel 'bioluminometric assay coupled with terminator (ddNTP) incorporation' (BATI) platform was developed for multiplex SNP typing in a single reaction chamber.
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Genomic screen for loci associated with tobacco usage in Mission Indians.
PMID 16472381 · PMC1386651 · BMC medical genetics · 2006 · 8 claims · 5 setups
Regular tobacco use (h2=0.37±0.11) and persistent tobacco use (h2=0.34±0.12) are moderately heritable in this Mission Indian sample
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Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.
PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups
MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors
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Polymorphism and epitope sharing between the alleles of merozoite surface protein-1 of Plasmodium falciparum among Indian isolates.
PMID 17659072 · PMC1950510 · Malaria journal · 2007 · 7 claims · 6 setups
PfMAD20 is the predominant PfMSP-1 allelic type among Indian field isolates
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Proteolysis of the endothelial cell protein C receptor by neutrophil proteinase 3.
PMID 17459006 · PMC1890847 · Journal of thrombosis and haemostasis : JTH · 2007 · 8 claims · 8 setups
Activated neutrophils decrease EPCR surface expression on endothelial cells over time