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 genomic pathway approach to a complex disease: axon guidance and Parkinson disease.
PMID 17571925 · PMC1904362 · PLoS genetics · 2007 · 8 claims · 5 setups
A genomic pathway approach using axon-guidance pathway SNPs strongly predicts PD susceptibility, survival free of PD, and age at onset of PD
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Has reproduction · 85
Systematic Analysis of Long Non-Coding RNA Genes in Nonalcoholic Fatty Liver Disease.
PMID 35893239 · PMC9332188 · Non-coding RNA · 2022 · 6 claims · 5 setups
Many lncRNAs, like protein-coding genes, are differentially expressed in NAFLD patients compared to healthy normal-weight and obese individuals.
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Genes influencing coagulation and the risk of aneurysmal subarachnoid hemorrhage, and subsequent complications of secondary cerebral ischemia and rebleeding.
PMID 19826759 · PMC2815293 · Acta neurochirurgica · 2010 · 6 claims · 2 setups
Carriers of the factor XIII subunit B His95Arg polymorphism have an increased risk of aneurysmal SAH
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Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
PMID 18776955 · PMC2530518 · Molecular vision · 2008 · 7 claims · 4 setups
Two novel MYOC mutations, Pro13Leu (38C→T) and Gln337Stop (1009C del), are likely responsible for POAG pathogenesis in this pedigree
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Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.
PMID 17945002 · PMC2242669 · Breast cancer research : BCR · 2007 · 8 claims · 7 setups
-26G>A polymorphism in the BRCA2 5' UTR is functional: the A allele drives roughly twice the reporter gene expression of the G allele in MCF-7 and HeLa cells
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Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.
PMID 17359525 · PMC1838427 · BMC molecular biology · 2007 · 8 claims · 8 setups
OPTC is a candidate gene involved in POAG pathogenesis
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A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.
PMID 18618005 · PMC2447816 · Molecular vision · 2008 · 6 claims · 4 setups
A heterozygous c.327C>A transversion in exon 3 of CRYGC causes a nonsense mutation (C109X) that cosegregates with autosomal dominant congenital nuclear cataract in a Chinese family.
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Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.
PMID 17895983 · PMC1976591 · PloS one · 2007 · 8 claims · 5 setups
Sequencing of complete mtDNA genomes in 23 pediatric patients identified 27 significant variants (12 novel, 15 known) associated with mitochondrial encephalomyopathies.
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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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A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
PMID 18334966 · PMC2268715 · Molecular vision · 2008 · 7 claims · 5 setups
A novel 827C>T transition in GJA8 causes a serine-to-phenylalanine substitution (S276F) associated with dominant congenital pulverulent nuclear cataract in this Chinese family.
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Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.
PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups
A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family
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Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
PMID 17653036 · PMC2774456 · Molecular vision · 2007 · 8 claims · 4 setups
A novel heterozygous mutation (383A>T; D128V) in exon 5 of CRYBB2 cosegregates with congenital cataract in all three affected family members and is absent in unaffected relatives.
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Antibody protein array analysis of the tear film cytokines.
PMID 18677223 · PMC3786218 · Optometry and vision science : official publication of the American Academy of Optometry · 2008 · 7 claims · 4 setups
Tear fluid contains factors with affinity for plastic, capture antibodies, and IgG that create matrix effects profoundly impacting dot ELISA/array reliability
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A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.
PMID 18629826 · PMC2697596 · Human mutation · 2008 · 8 claims · 5 setups
A novel 154-bp mtDNA control region deletion (m.16154_16307del154) was identified in a healthy family
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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups
Mutations in GLE1, an mRNA export mediator, cause LCCS1
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Adaptations to climate in candidate genes for common metabolic disorders.
PMID 18282109 · PMC2242814 · PLoS genetics · 2008 · 8 claims · 7 setups
A network-based bioinformatics approach (Molecular Triangulation) was used to select 82 candidate genes belonging to the core subnetwork of metabolic syndrome phenotypes.