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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A novel variable number of tandem repeat of the natriuretic peptide precursor B gene's 5'-flanking region is associated with essential hypertension among Japanese females.
PMID 17554401 · PMC1885554 · International journal of medical sciences · 2007 · 8 claims · 6 setups
A novel VNTR polymorphism (TTTC repeat) was discovered at -1241 nucleotides in the 5'-flanking region of NPPB, with 8 alleles ranging from 9 to 19 repeats.
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Endonuclease-independent insertion provides an alternative pathway for L1 retrotransposition in the human genome.
PMID 17517773 · PMC1920257 · Nucleic acids research · 2007 · 8 claims · 5 setups
An endonuclease-independent pathway (NCLI) for L1 insertion has been active in recent human genome evolution
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Patterns of somatic mutation in human cancer genomes.
PMID 17344846 · PMC2712719 · Nature · 2007 · 8 claims · 5 setups
Systematic resequencing of a large gene family (protein kinases) across diverse cancers reveals a larger repertoire of cancer genes than previously anticipated
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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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In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.
PMID 17201911 · PMC1774567 · BMC genomics · 2007 · 8 claims · 5 setups
A computational EST-based pipeline can identify UTR-SNPs that are statistically over-represented in cancerous versus normal tissue libraries
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Comparative genomic study reveals a transition from TA richness in invertebrates to GC richness in vertebrates at CpG flanking sites: an indication for context-dependent mutagenicity of methylated CpG sites.
PMID 19329065 · PMC5054122 · Genomics, proteomics & bioinformatics · 2008 · 8 claims · 8 setups
Nucleotide preference at CpG flanking sites transitions from 5' T (invertebrates) to 5' A (vertebrates) at the invertebrate-vertebrate boundary
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Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.
PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups
JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.
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Association of adiponectin gene polymorphisms with type 2 diabetes in an African American population enriched for nephropathy.
PMID 19056609 · PMC2628626 · Diabetes · 2009 · 8 claims · 5 setups
SNP rs182052 in intron 1 of ADIPOQ is associated with diabetic nephropathy in African Americans
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Activation instead of blocking mesolimbic dopaminergic reward circuitry is a preferred modality in the long term treatment of reward deficiency syndrome (RDS): a commentary.
PMID 19014506 · PMC2615745 · Theoretical biology & medical modelling · 2008 · 8 claims · 6 setups
A biphasic treatment approach—acute DA receptor blocking followed by long-term DA release/activation at the NAc—is needed to treat RDS without inducing abnormal mood or craving.
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Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.
PMID 19005564 · PMC2579325 · PloS one · 2008 · 8 claims · 7 setups
Doublet mutations are significantly more frequent in EGFR (6.0%) and TP53 (2.3%) in human lung cancer than spontaneous doublets in mouse lacI (0.7%), about 8-fold and 3-fold higher respectively.
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A role for the p53 pathway in the pathology of meningiomas with NF2 loss.
PMID 18974932 · PMC2692701 · Journal of neuro-oncology · 2009 · 7 claims · 4 setups
The Pro72 allele of p53 codon 72 was not selected for in the meningioma cohort, and its distribution did not differ from control populations, indicating no role in meningioma initiation.
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K-RAS and P53 mutations in association with COX-2 and hTERT expression and clinico-pathological status of NSCLC patients.
PMID 18957720 · PMC3827803 · Disease markers · 2008 · 8 claims · 6 setups
P53 mutations were identified in 34.4% of NSCLC tumours, most frequently in SCC (55.6%)
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Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms.
PMID 18948608 · PMC2629798 · Stroke · 2009 · 8 claims · 4 setups
Genomewide linkage analysis in 26 multiplex IA families with AA-affected members identified LOD peaks on chromosome 11 (LOD=3.0) and chromosome 6 (LOD=2.3) using a broad IA/AA-combined phenotype
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Aggregation propensity of the human proteome.
PMID 18927604 · PMC2557143 · PLoS computational biology · 2008 · 8 claims · 7 setups
Long proteins have, on average, less intense/pronounced aggregation peaks than short proteins
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Association of GSK3B with Alzheimer disease and frontotemporal dementia.
PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups
The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort
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Patterns of evolutionary constraints on genes in humans.
PMID 18840274 · PMC2587479 · BMC evolutionary biology · 2008 · 7 claims · 6 setups
BaseDiver, a novel framework integrating GERP score and derived allele frequency (DAF) at nonsynonymous coding SNPs, can classify GO functional categories by patterns of evolutionary constraint
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Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.
PMID 18783588 · PMC2547096 · BMC medical genetics · 2008 · 8 claims · 5 setups
Five recurrent mutations (1806C>T, 300T>G, 300T>A, 5382insC in BRCA1; IVS16-2A>G in BRCA2) are responsible for the majority of BRCA1/2-positive Slovenian families
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Comprehensive genomic characterization defines human glioblastoma genes and core pathways.
PMID 18772890 · PMC2671642 · Nature · 2008 · 8 claims · 5 setups
NF1 is a genuine human glioblastoma suppressor gene, inactivated by mutation, deletion, or expression loss in at least 23% of GBM samples
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LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease.
PMID 18752982 · PMC2761091 · Parkinsonism & related disorders · 2009 · 8 claims · 4 setups
LRRK2 G2019S mutation frequency was 1.56% in total PD, higher in familial PD (3.5%) than sporadic PD (0.3%)
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A high-temporal resolution technology for dynamic proteomic analysis based on 35S labeling.
PMID 18714357 · PMC2500177 · PloS one · 2008 · 6 claims · 6 setups
35S pulse-labeling (phosphor-imaging) detects more protein spots with higher sensitivity than CBB staining on the same 2-DE gels