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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Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.
PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups
No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers
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The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not associated with ischaemic heart disease: analysis employing a family based approach.
PMID 15665388 · PMC3839324 · Disease markers · 2004 · 6 claims · 3 setups
The MMP-3 -1612 5A/6A polymorphism is not associated with ischaemic heart disease in an Irish population.
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Gene expression study on peripheral blood identifies progranulin mutations.
PMID 18551524 · PMC2773201 · Annals of neurology · 2008 · 7 claims · 3 setups
PGRN is highly expressed in peripheral blood (97th percentile of all array genes)
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Has reproduction · 83
Discovery and validation of molecular patterns and immune characteristics in the peripheral blood of ischemic stroke patients.
PMID 38650649 · PMC11034498 · PeerJ · 2024 · 8 claims · 8 setups
188 differentially expressed genes (DEGs) between IS and control blood samples were identified and enriched in immune-related biological pathways
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Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups
Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations
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Assessing the utility of whole-genome amplified serum DNA for array-based high throughput genotyping.
PMID 20021669 · PMC2803178 · BMC genetics · 2009 · 8 claims · 8 setups
WGA DNA from archived serum samples produced low genotyping call rates and is unsuitable for high-resolution genotyping on SNP 6.0 arrays
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Deconvoluting the 'omics' for organ transplantation.
PMID 19644370 · PMC2993238 · Current opinion in organ transplantation · 2009 · 8 claims · 5 setups
High-throughput 'omic' technologies (genomics, proteomics, metabolomics, antibiomics) can uncover novel biomarkers for acute rejection, chronic rejection, and operational tolerance without a priori pathway bias
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Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations.
PMID 18694524 · PMC2525636 · BMC biotechnology · 2008 · 8 claims · 4 setups
The mismatch-specific endonuclease method achieved 100% sensitivity and specificity for identifying HBB gene mutations in the study sample.
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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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An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.
PMID 18615206 · PMC2443752 · Molecular vision · 2008 · 7 claims · 2 setups
A heterozygous R124C (C417T) mutation in TGFBI was detected in all affected individuals across three unrelated Chinese pedigrees with LCD I.
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Genes implicated in multiple sclerosis pathogenesis from consilience of genotyping and expression profiles in relapse and remission.
PMID 18366677 · PMC2324081 · BMC medical genetics · 2008 · 8 claims · 7 setups
Distinct sets of dysregulated genes are found in peripheral blood during the relapse phase versus the remission phase of RRMS
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Has reproduction · 54
Profiling chromatin accessibility responses in human neutrophils with sensitive pathogen detection.
PMID 34145026 · PMC8321655 · Life science alliance · 2021 · 8 claims · 6 setups
ATAC-seq reveals unique neutrophil chromatin architecture changes in response to different stimuli before transcriptional activation, possibly regulating downstream gene expression.
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Has reproduction · 64
Blood Transcriptome Analysis of Septic Patients Reveals a Long Non-Coding Alu-RNA in the Complement C5a Receptor 1 Gene.
PMID 35447887 · PMC9027897 · Non-coding RNA · 2022 · 6 claims · 7 setups
A computational pipeline intersecting immune gene coordinates with Alu element coordinates can identify candidate Alu-lncRNAs
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Geographical genomics of human leukocyte gene expression variation in southern Morocco.
PMID 19966804 · PMC2798927 · Nature genetics · 2010 · 8 claims · 8 setups
Gene expression differs substantially between locations (up to 38% of transcripts), driven largely by a rural-versus-urban lifestyle contrast rather than ethnicity or gender.
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Population study of 1311 C/T polymorphism of Glucose 6 Phosphate Dehydrogenase gene in Pakistan - an analysis of 715 X-chromosomes.
PMID 19640310 · PMC2725355 · BMC genetics · 2009 · 8 claims · 4 setups
1311T is a frequent polymorphism in Pakistan both in subjects carrying G6PD Mediterranean mutation and in the general population
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The association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study.
PMID 16688411 · PMC3451703 · The journal of headache and pain · 2006 · 7 claims · 3 setups
No association was found between COMT Val158Met polymorphism and migraine in a population-based sample.
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Has reproduction · 73
Exploring the prognostic and diagnostic value of lactylation-related genes in sepsis.
PMID 39367086 · PMC11452377 · Scientific reports · 2024 · 8 claims · 7 setups
Intersecting sepsis-associated differentially expressed genes with a curated list of 332 lactylation genes yields 55 sepsis-related lactylation genes.
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Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.
PMID 16961930 · PMC1570477 · Molecular cancer · 2006 · 8 claims · 6 setups
Somatic deletion of the maternal NF1 allele occurred in the melanoma of an NF1 patient, demonstrating biallelic NF1 inactivation.
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Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.
PMID 18955570 · PMC2585845 · The Journal of experimental medicine · 2008 · 7 claims · 8 setups
Familial primary PAP is caused by compound heterozygous mutations in CSF2RA: a paternal G174R point mutation and a maternal 1.6-Mb deletion at Xp22.33 encompassing CSF2RA.
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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.