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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Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.
PMID 18211709 · PMC2248204 · BMC neurology · 2008 · 6 claims · 4 setups
Pathogenic mutations in PRKN and LRRK2, but not SNCA or PINK1, are found in a Portuguese cohort of early-onset/familial PD patients
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PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size.
PMID 16620382 · PMC1459209 · BMC bioinformatics · 2006 · 7 claims · 3 setups
PedGenie is a valid, flexible statistical tool for genetic association analysis in pedigrees of arbitrary size and structure using Monte Carlo significance testing
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An integrated database of genes responsive to the Myc oncogenic transcription factor: identification of direct genomic targets.
PMID 14519204 · PMC328458 · Genome biology · 2003 · 8 claims · 6 setups
The Myc Target Gene database integrates literature evidence to prioritize candidate Myc-responsive genes and cluster them into functional groups
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Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.
PMID 15608400 · PMC2816285 · Journal of Korean medical science · 2004 · 7 claims · 6 setups
Developed a reliable quantitative real-time PCR assay using SMN1-specific primers, SYBR Green I dye, and the comparative Ct (ΔΔCt) method, normalized to albumin, to determine SMN1 copy number
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Large genomic rearrangements in the CFTR gene contribute to CBAVD.
PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups
Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening
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Transcriptome and proteome expressions involved in insulin resistance in muscle and activated T-lymphocytes of patients with type 2 diabetes.
PMID 18267303 · PMC5054231 · Genomics, proteomics & bioinformatics · 2007 · 8 claims · 8 setups
Gene expression of INSR, VDR, IDE, Akt, IRS-1, IRS-2, GLUT4, and glycolytic pathway enzymes is decreased at least 50% in T2DM muscle and activated T-cells versus non-diabetic controls
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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
PMID 17704778 · PMC2872770 · Nature genetics · 2007 · 8 claims · 6 setups
Mutations in UPF3B cause syndromic (Lujan-Fryns syndrome, FG syndrome) and nonsyndromic X-linked mental retardation
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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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Testing whether genetic variation explains correlation of quantitative measures of gene expression, and application to genetic network analysis.
PMID 18444230 · PMC2729096 · Statistics in medicine · 2008 · 8 claims · 3 setups
A statistical test (delta method and Steiger-Browne optimal linear composites) is developed to test equality of the marginal correlation and the partial correlation of two gene expression traits conditional on a set of covariates.
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Gene expression levels assessed by oligonucleotide microarray analysis and quantitative real-time RT-PCR -- how well do they correlate?
PMID 15854232 · PMC1142514 · BMC genomics · 2005 · 8 claims · 2 setups
Correlations between qRT-PCR and microarray data are generally strong, especially when identical transcripts are targeted by both methods (r = 0.89 for fold-change).
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Insights into the physiology of childbirth using transcriptomics.
PMID 16752954 · PMC1475648 · PLoS medicine · 2006 · 7 claims · 4 setups
Labor results in a change in the transcriptome in each component of the uterus studied
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Genomic and proteomic profiling II: comparative assessment of gene expression profiles in leiomyomas, keloids, and surgically-induced scars.
PMID 17718906 · PMC2039739 · Reproductive biology and endocrinology : RB&E · 2007 · 7 claims · 4 setups
1124 transcripts (1103 genes; 732 over-expressed, 371 under-expressed) are differentially expressed in leiomyomas compared to keloids/incisional scars
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Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.
PMID 19765279 · PMC2760583 · BMC genomics · 2009 · 8 claims · 5 setups
Global microarray profiling reveals 421 genes differentially expressed in DBA patient fibroblasts compared to healthy controls
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Has reproduction · 54
Gene-Expression Profiling Suggests Impaired Signaling via the Interferon Pathway in Cstb-/- Microglia.
PMID 27355630 · PMC4927094 · PloS one · 2016 · 8 claims · 8 setups
In Cstb-/- microglia, 184 genes were differentially expressed relative to control, of which 33 were identified by both microarray and RNA-seq.
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Genetics and functional genomics of type 2 diabetes mellitus.
PMID 14659011 · PMC329413 · Genome biology · 2003 · 7 claims · 5 setups
Genome-wide transcription profiling of diabetic skeletal muscle reveals coordinated downregulation of oxidative phosphorylation genes, converging on PGC1α as a central regulator.
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Systems biology and the host response to viral infection.
PMID 18066032 · PMC7097743 · Nature biotechnology · 2007 · 8 claims · 8 setups
Systems biology integration of 'omics data (transcriptomics, proteomics, genomics) with computational modeling is needed to fully understand virus-host interactions and identify novel antiviral targets
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Genomics of signaling crosstalk of estrogen receptor alpha in breast cancer cells.
PMID 18365014 · PMC2268000 · PloS one · 2008 · 7 claims · 6 setups
Estrogen, growth factors and cAMP elicit surprisingly distinct ERα-dependent transcriptional responses in MCF7 cells
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Stable patterns of gene expression regulating carbohydrate metabolism determined by geographic ancestry.
PMID 20016837 · PMC2790609 · PloS one · 2009 · 8 claims · 6 setups
151 'geo-ancestral genes' were identified that are both differentially expressed between AA and CAU subjects and contain SNPs distinguishing YRI (African) from CEU (European) HapMap populations
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Identification of novel gene amplifications in breast cancer and coexistence of gene amplification with an activating mutation of PIK3CA.
PMID 19706770 · PMC2745517 · Cancer research · 2009 · 8 claims · 8 setups
Genome-wide DNA copy number analysis of 161 primary breast tumors identified six novel focally amplified genes: POLD3, IRAK4, IRX2, TBL1XR1, ASPH, and BRD4
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Differentiation status determines the effects of IFNγ on the expression of PD-L1 and immunomodulatory genes in melanoma.
PMID 39736644 · PMC11687009 · Cell communication and signaling : CCS · 2024 · 6 claims · 8 setups
Dedifferentiation via MITF knockdown renders 624Mel melanoma cells hypersensitive to IFNγ, causing non-additive (synergistic) upregulation of IFNγ-induced immunoregulatory genes.