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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mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice.
PMID 19763141 · PMC2909846 · Journal of human genetics · 2009 · 8 claims · 8 setups
The G10398A cybrid shows slower proliferation and delayed cell cycle progression (G1 accumulation, decreased G2/M) compared to wild-type G10398 cybrid
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Population history and natural selection shape patterns of genetic variation in 132 genes.
PMID 15361935 · PMC515367 · PLoS biology · 2004 · 7 claims · 5 setups
Developed a rigorous computational approach that corrects for multiple hypothesis testing and models population demographic history to test for natural selection
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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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Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.
PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups
Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls
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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes.
PMID 16381944 · PMC1347513 · Nucleic acids research · 2006 · 7 claims · 4 setups
SNP500Cancer provides sequence and genotype assay information for candidate cancer-related SNPs to support molecular epidemiology and complex disease mapping studies
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A potentially deleterious new CYP2C9 polymorphism identified in an African American patient with major hemorrhage on warfarin therapy.
PMID 19083245 · PMC2662477 · Blood cells, molecules & diseases · 2009 · 7 claims · 4 setups
A new CYP2C9 coding polymorphism, G1078A (D360N) in exon 7, was identified in an African American patient who experienced major gastrointestinal hemorrhage on warfarin therapy
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Gene module regulation in dilated cardiomyopathy and the role of Na/K-ATPase.
PMID 35901050 · PMC9333241 · PloS one · 2022 · 7 claims · 7 setups
Several WGCNA gene co-expression modules are significantly associated with both LVEF and the DCM phenotype in heart failure patients.
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Ethnic differences and functional analysis of MET mutations in lung cancer.
PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups
MET mutations identified in lung tumors are predominantly germline rather than somatic
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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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Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.
PMID 18270997 · PMC2909109 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups
The G/A and A/A genotypes of G472A (Val158Met) are point-wise significantly associated with opiate addiction in Hispanic women but not men (P=0.049)
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High-density SNP genotyping to define beta-globin locus haplotypes.
PMID 18829352 · PMC4251776 · Blood cells, molecules & diseases · 2009 · 8 claims · 5 setups
RFLP analysis lacks sufficient site density/coverage to accurately reflect the genomic complexity of the β-locus
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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
PMID 19921648 · PMC2787970 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
SOX2 coding-region mutations were identified in 10 of 51 (19.6%) unrelated individuals with anophthalmia/microphthalmia
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Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer.
PMID 17700570 · PMC2360390 · British journal of cancer · 2007 · 8 claims · 3 setups
Germline protein-truncating BRCA2 mutations confer an elevated relative risk (~7.8-fold) of early-onset prostate cancer in Caucasian men
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Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.
PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups
Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts
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Genome-wide analysis of the human Alu Yb-lineage.
PMID 15588477 · PMC3525081 · Human genomics · 2004 · 8 claims · 6 setups
1,733 Alu Yb-lineage elements are present on human autosomal chromosomes
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TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.
PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups
A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.
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Human genomic variation.
PMID 11178257 · PMC138878 · Genome biology · 2000 · 8 claims · 7 setups
Lewontin's 1972 analysis of 17 blood-group/protein loci found 85% of human genetic variation lies within individuals of a nation/tribe, 8% between populations within races, and only 6% between races
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Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.
PMID 16336695 · PMC1325232 · Respiratory research · 2005 · 6 claims · 8 setups
There is overall little sequence variation in the conserved non-coding elements (CNEs) on 5q31, including none detected in CNE-B/CNS-1