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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Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups
NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations
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Downregulation of death-associated protein kinase 1 (DAPK1) in chronic lymphocytic leukemia.
PMID 17540169 · PMC4647864 · Cell · 2007 · 8 claims · 13 setups
DAPK1 promoter is epigenetically silenced by DNA methylation in almost all sporadic CLL cases
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Nutrigenetic association of the 5-lipoxygenase gene with myocardial infarction.
PMID 18842779 · PMC3014055 · The American journal of clinical nutrition · 2008 · 8 claims · 4 setups
A significant gene x diet interaction exists between 5-LO promoter short alleles (3,4 repeats) and dietary AA intake in determining MI risk
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A novel polymorphism in the 1A promoter region of the vitamin D receptor is associated with altered susceptibilty and prognosis in malignant melanoma.
PMID 15238985 · PMC2364794 · British journal of cancer · 2004 · 7 claims · 6 setups
A novel A-1012G (adenine-guanine) polymorphism exists in the VDR exon 1a promoter region, identified by SSCP screening and sequencing
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Tissue plasminogen activator and plasminogen activator inhibitor type 1 gene polymorphism in patients with gastric ulcer complicated with bleeding.
PMID 12589088 · PMC3054991 · Journal of Korean medical science · 2003 · 6 claims · 5 setups
The t-PA I/D or D/D genotype is significantly associated with duodenal (vs gastric) ulcer location
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Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.
PMID 17653048 · PMC2776539 · Molecular vision · 2007 · 8 claims · 4 setups
No RP patient among 68 Japanese subjects carried a RHO mutation causing an amino acid substitution
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CHD5, a tumor suppressor gene deleted from 1p36.31 in neuroblastomas.
PMID 18577749 · PMC2483574 · Journal of the National Cancer Institute · 2008 · 7 claims · 8 setups
CHD5 promoter is highly methylated in neuroblastoma cell lines with 1p deletion and absent CHD5 expression (NLF, IMR5)
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Adverse prognosis of epigenetic inactivation in RUNX3 gene at 1p36 in human pancreatic cancer.
PMID 18475302 · PMC2391125 · British journal of cancer · 2008 · 7 claims · 5 setups
RUNX3 promoter hypermethylation is frequent in primary pancreatic cancer tissue
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Interaction of vitamin D receptor with HLA DRB1 0301 in type 1 diabetes patients from North India.
PMID 19956544 · PMC2780726 · PloS one · 2009 · 8 claims · 6 setups
Interaction between VDR and HLA alleles is mediated by a VDRE present in the promoter region of HLA-DRB1*0301, which may be detrimental in the absence of 1,25-(OH)2D3 in early childhood.
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Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.
PMID 17655765 · PMC1950490 · BMC medical genetics · 2007 · 8 claims · 3 setups
No coding mutations were found in NR2E1 or SNX3 in five patients with MMEP or related phenotypes
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Evidence for L1-associated DNA rearrangements and negligible L1 retrotransposition in glioblastoma multiforme.
PMID 27843499 · PMC5105311 · Mobile DNA · 2016 · 6 claims · 7 setups
Canonical (endonuclease-dependent, TPRT-driven) L1 retrotransposition is absent or negligible in GBM tumours and cultured GBM cell lines
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Inactivation of O6-methylguanine-DNA methyltransferase by promoter CpG island hypermethylation in gastric cancers.
PMID 12085181 · PMC2375420 · British journal of cancer · 2002 · 6 claims · 8 setups
Loss of MGMT expression in gastric carcinomas frequently results from promoter CpG island hypermethylation.
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Chromosomal phenotypes and submicroscopic abnormalities.
PMID 15601540 · PMC3525070 · Human genomics · 2004 · 8 claims · 8 setups
Microdeletion syndromes are flanked by region-specific low-copy repeats (LCRs), and non-allelic homologous recombination (NAHR) between these LCRs, via interchromosomal or intrachromosomal mechanisms, causes the deletions.
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SNPs in cancer research and treatment.
PMID 14970847 · PMC2410167 · British journal of cancer · 2004 · 8 claims · 8 setups
SNPs and haplotype-tagging SNPs (ht-SNPs) provide a resource for investigating genetic contributions to cancer susceptibility and outcome while reducing genotyping burden versus testing every SNP
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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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Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis.
PMID 17587445 · PMC1913537 · BMC genetics · 2007 · 6 claims · 4 setups
CCR7 gene variants occur at extremely low frequency (allelic frequencies ≤5%) in the German population
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Lymphocytes from patients with type 1 diabetes display a distinct profile of chromatin histone H3 lysine 9 dimethylation: an epigenetic study in diabetes.
PMID 18776137 · PMC2584123 · Diabetes · 2008 · 6 claims · 7 setups
Lymphocytes (but not monocytes) from type 1 diabetic patients show a distinct subset of genes with significantly increased H3K9me2 compared with healthy controls.
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In silico promoters: modelling of cis-regulatory context facilitates target predictio.
PMID 18505473 · PMC3823354 · Journal of cellular and molecular medicine · 2009 · 8 claims · 8 setups
An integrated 'profiling of transcriptional targets' (PTT) strategy by Freebern et al. identified IGF-1 as a co-modulator of immune cell function genes in mitogen/drug-activated T cells.
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Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.
PMID 15799788 · PMC1079843 · BMC medical genetics · 2005 · 8 claims · 7 setups
Systematic screening of TPH1 exons and promoter region in Taiwanese Han identified five sequence variants: A-1067G, G-347T, T3804A, C27224T, A27237G.
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Pharmacogenomics of gemcitabine: can genetic studies lead to tailor-made therapy?
PMID 17595663 · PMC2360307 · British journal of cancer · 2007 · 8 claims · 14 setups
A SNP in the cytidine deaminase (CDA) gene (208G>A, haplotype *3) decreases gemcitabine clearance, increases Cmax/AUC, and increases neutropenia risk when gemcitabine is combined with platinum drugs or 5-FU